| Citation |
|---|
| Unpublished paper
No title listed No journal listed |
| Unpublished paper
No title listed No journal listed 201 |
| Unpublished paper
No title listed No journal listed 2011 |
| Unpublished paper
No title listed No journal listed 2011 pp.twins |
| Unpublished paper
No title listed No journal listed 2015 |
| Not published |
| Not published |
| "Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek"
"MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning" Journal of Human Genetics 2016 Pubmed: 26984561 |
| Adegbola, A.A., Gonzales, M.L., Chess, A., LaSalle, J.M., Cox, G.F.
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype Human Genetics 2009 Vol. 124 pp.615-23 Pubmed: 18989701 |
| Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer
MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism American Journal of Medical Genetics Part B (Neuropsychiatric Genetics) 2004 Vol. 128B pp.50-53 Pubmed: 15211631 |
| Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro
Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome Journal of Human Genetics 2000 Vol. 45 pp.231-236 Pubmed: 10944854 |
| Unpublished paper
Amir et al. Rett syndrome is caused etc. Nature Genetics 1999 Vol. 23 pp.185-188 |
| Amir, R.E., Fang, P., Yu, Z., Glaze, D.G., Percy, A.K., Zoghbi, H.Y., Roa, B.B., Van den Veyver, I.B.
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome Journal of Medical Genetics 2005 Vol. 42 pp.e15 Pubmed: 15689438 |
| Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nature Genetics 1999 Vol. 23 pp.185-188 Pubmed: 10508514 |
| Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients J Med Genet 2006 Vol. 43 pp.451-456 Pubmed: 16183801 |
| Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ
Gross rearrangements of the MECP2 gene are found in both classicalal and atypical Rett syndrome patients J Med Genet 2006 Vol. 43 pp.451-456 Pubmed: 16183801 |
| Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication Human Mutation 2004 Vol. 24 pp.172-177 Pubmed: 15241799 |
| Armstrong, J., Aibar, E., Pineda, M., Pérez, M.M., Geán, E., Carrera, M., Casas, C., Martínez, F., Monrós, E.
Prenatal diagnosis in Rett syndrome Fetal Diagnosis and Therapy 2002 Vol. 17 pp.200-204 Pubmed: 12065946 |
| Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MeCP2 mutation Annals of Neurology 2001 Vol. 50 pp.692 Pubmed: 11706982 |
| Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.
Variable phenotypic expression of a MECP2 mutation in a family J Neurodevelop Disorder 200 Vol. 1 pp.313-317 Pubmed: 20151026 |
| Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.
Variable phenotypic expression of a MECP2 mutation in a family J Neurodevelop Disorder 2009 Vol. 1 pp.313-317 Pubmed: 20151026 |
| Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features Neurology 2001 Vol. 56 pp.611-617 Pubmed: 11245712 |
| B. Zoll, P. Huppke, A. Wessel, I. Bartels and F. Laccone
Fetal alcohol syndrome in association with Rett syndrome Genetic Counseling 2004 Vol. 15 pp.207-212 Pubmed: 15287421 |
| Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi
Rett syndrome: clinical manifestations in males with MECP2 mutations Journal of Child Neurology 2002 Vol. 17 pp.20-24 Pubmed: 11913564 |
| Not published |
| Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC)
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism Human genetics 2002 Vol. 111 pp.305-309 Pubmed: 12384770 |
| Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J
Spectrum of MECP2 mutations in Rett syndrome Genetic testing 2002 Vol. 6 pp.1-6 Pubmed: 12180070 |
| Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel
MECP2 mutations account for most cases of typical forms of Rett syndrome Human Molecular Genetics 2000 Vol. 9 pp.1377-1384 Pubmed: 10814719 |
| Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy Human mutation 2001 Vol. 18 pp.251-252 Pubmed: 11524737 |
| Boulanger, S., Mariage, L., Van Maldergem, L., Gillerot, Y. and Hilbert, P.
Evaluation of the Multiplex Ligation-Dependent Probe Amplification (MLPA) technology in the diagnosis of Rett syndrome American journal of human genetics 2003 Vol. 73 supplem pp.572 |
| Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients Human genetics 2001 Vol. 108 pp.43-50 Pubmed: 11214906 |
| Not published |
| Unpublished paper
Bunyan, D. No title listed No journal listed |
| Not published |
| Bunyan, D.J., Robinson, D.O.
Multiple de novo mutations in the MECP2 gene Genetics Testing 2008 Vol. 12 pp.373-376 Pubmed: 18652533 |
| Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms American Journal of Human Genetics 2000 Vol. 67 pp.1428-1436 Pubmed: 11055898 |
| Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P
A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene Bratislava Medical Journal 2004 Vol. 105 pp.299-302 Pubmed: 15633890 |
| Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males Brain & Development 2007 Vol. 29 pp.293-297 Pubmed: 17084570 |
| Campos, M., Jr, C.B. Abdalla, A.V. dos Santos, C.P. Pestana, J.M. dos Santos, C.B. Santos-Rebouças, M.M.G. Pimentel
A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male Brain & Development 2009 Vol. 31 pp.176-178 Pubmed: 18678449 |
| Campos, M., Jr, Pestana, C.P., dos Santos, A.V., Ponchel, F., Churchman, S., Abdalla-Carvalho, C.B., dos Santos, J.M., dos Santos, F.L., Gikovate, C.G., Santos-Rebouças, C.B., Pimentel, M.M.G.
A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder Brain & Development 201 Vol. 33 pp.807-809 Pubmed: 21600714 |
| Unpublished paper
Cardiff, UK No title listed No journal listed |
| Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.
Identification of MeCP2 mutations in a series of females with autistic disorder Pediatr Neurol 2003 Vol. 28 pp.205-211 Pubmed: 12770674 |
| Not published |
| Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype Journal of Child Neurology 2004 Vol. 19 pp.503-508 Pubmed: 15526954 |
| Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome Journal of Child Neurology 2002 Vol. 17 pp.33-36 Pubmed: 11913567 |
| Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome American Journal of Medical Genetics 2013 Vol. 161A pp.1638-1646 Pubmed: 23696494 |
| Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location Human Molecular Genetics 2000 Vol. 9 pp.1119-1129 Pubmed: 10767337 |
| Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.
A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1 Clinical Sciences 2006 Vol. 70 pp.530-531 Pubmed: 17101000 |
| Clayton-Smith, J., Watson, P., Ramsden, S., Black, G. C.
Somatic mutation in MeCP2 as a non-fatal neurodevelopmental disorder in males The Lancet 2000 Vol. 356 pp.830-832 Pubmed: 11022934 |
| Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine
MECP2 mutation in a boy with language disorder and schizophrenia American Journal of Psychiatry 2002 Vol. 159 pp.148-149 Pubmed: 11772708 |
| Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.
Mutation analysis of the MECP2 gene in patients with Rett syndrome American Journal of Medical Genetics 2003 Vol. 117A pp.184-187 Pubmed: 12567420 |
| Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation Journal of Intellectual Disability Research 201 Vol. 56 pp.415-420 Pubmed: 21954873 |
| Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation Journal of Intellectual Disability Research 2012 Vol. 56 pp.415-420 Pubmed: 21954873 |
| Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.
MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2007 Vol. 144B pp.475-483 Pubmed: 17427193 |
| Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord
MECP2 is highly mutated in X-linked mental retardation Human Molecular Genetics 2001 Vol. 10 pp.941-946 Pubmed: 11309367 |
| D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene Clinical Genetics 2006 Vol. 69 pp.319-326 Pubmed: 16630165 |
| Unpublished paper
Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek No title listed No journal listed |
| Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning Journal of Human Genetics 201 Pubmed: 26984561 |
| Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning Journal of Human Genetics 2016 Pubmed: 26984561 |
| Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning Journal of Human Genetics 2016 Pubmed: 26984561 |
| Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.
Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations Gene 201 Vol. 515 pp.78-83 Pubmed: 23262346 |
| Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.
Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations Gene 2013 Vol. 515 pp.78-83 Pubmed: 23262346 |
| Das, S., Dempsey, M. U. Chicago
No title listed No journal listed |
| Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Brain & Development 2007 Vol. 29 pp.47-50 Pubmed: 16844334 |
| De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra
Preserved speech variant is allelic of classic Rett syndrome European Journal of Human Genetics 2000 Vol. 8 pp.325-330 Pubmed: 10854091 |
| de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.
Genotype-phenotype correlation in Brazillian Rett syndrome patients Arq Neuropsiquiatr 2009 Vol. 67 pp.577-584 Pubmed: 19722030 |
| Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.
MECP2 mutations in Serbian Rett syndrome patients Acta Neurol Scand 2007 Vol. 116 pp.413-419 Pubmed: 17986102 |
| Donatella Milani, Chiara Pantaleoni, Stefano D’Arrigo, Angelo Selicorni, and Daria Riva
Another Patient With MECP2 Mutation Without Classic Rett Syndrome Phenotype Pediatric Neurology 2005 Vol. 32 pp.355-357 Pubmed: 15866439 |
| Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.
A new cohort of MECP2 mutation screening in unexplained mental retardation American Journal of Medical Genetics Part A 2006 Vol. 140A pp.1603-1607 Pubmed: 16763963 |
| Ellaway, C.J., Badawi, N., Raffaele, L., Christodoulou, J. and Leonard, H.
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening Clinical Dysmorphology 2001 Vol. 10 pp.185-188 Pubmed: 11446411 |
| Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.
MECP2 mutation screening in Swedish classical Rett syndrome females European Child and Adolescent Psychiatry 2001 Vol. 10 pp.117-121 Pubmed: 11469283 |
| Erlandson, A., Samuelsson, L., Hagberg, B., Kyllerman, M., Vujic, M., Wahlström, J.
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients Genetic Testing 2003 Vol. 7 pp.329-332 Pubmed: 15000811 |
| Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters Clinical Genetics 2006 Vol. 70 pp.336-338 Pubmed: 16965328 |
| Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls European Journal of Human Genetics 2005 Vol. 13 pp.124-126 Pubmed: 15367913 |
| Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.
A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome Genetic Testing and Molecular Biomarkers 2009 Vol. 13 pp.109-113 Pubmed: 19309283 |
| Fendri-Kriaa, N., Hsairi, I., Kifagi, C., Ellouze, E., Mkaouar-Rebai, E., Triki, C., Fakhfakh, F., Tunisian network on mental retardation study
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene Biochemical and Biophysical Research Communications 201 Vol. 409 pp.270-274 Pubmed: 21575601 |
| Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation
Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation Journal of Child Neurology 2010 Vol. 25 pp.1042-1046 Pubmed: 20631224 |
| Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.
Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients Journal of Child Neurology 201 Vol. 27 pp.564-568 Pubmed: 21940684 |
| Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.
Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients Journal of Child Neurology 2012 Vol. 27 pp.564-568 Pubmed: 21940684 |
| Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh, F.
Novel double deletions in the MECP2 gene in Tunisian Rett patient Gene 201 Vol. 502 pp.163-167 Pubmed: 22561697 |
| Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform Neurogenetics 2009 Vol. 10 pp.127-133 Pubmed: 19034540 |
| Fleilinger, M., Berndt, A., Haas, O.A.
MECP2 mutation in one of Rett's original patients Journal of Medicat Genetics 2009 Vol. 46 pp.647-648 Pubmed: 19724012 |
| Fridman C, Varela MC, Koiffmann CP
MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype American Journal of Human Genetics 2002 Vol. 71suppl pp.550 |
| Fridman C, Varela MC, Koiffmann CP
MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype American Journal of Human Genetics 2002 Vol. suppl71 pp.550 |
| Unpublished paper
Fridman C, Varela MC, Koiffmann CP MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype American Journal of Human Genetics 2002 Vol. suppl71 pp.550 |
| Not published |
| Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms Brain & Development 2005 Vol. 27 pp.211-217 Pubmed: 15737703 |
| Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky
Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers Pediatric Neurology 2017 Vol. 67 pp.98-101 Pubmed: 28089766 |
| Geerdink, N., Rotteveel, J. J., Lammens, M., Sistermans, E. A., Heikens, G. T., Gabreëls, F. J. M., Mullaart, R. A. and Hamel, B. C. J.
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings Neuropediatrics 2002 Vol. 33 pp.33-36 Pubmed: 11930274 |
| Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry
Parental origin of de novo MeCP2 mutations in Rett syndrome European journal of human genetics 2001 Vol. 9 pp.231-236 Pubmed: 11313764 |
| Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation Brain & Development 2001 Vol. 23 pp.S242-S245 Pubmed: 11738883 |
| Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations Journal of Human Genetics 2011 Vol. 56 pp.183-187 Pubmed: 21160487 |
| Hammer, S, Dorrani, N, Hartiala, J, Stein, S and Schanen, NC
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation American Journal of Medical Genetics 2003 Vol. 122A pp.223-226 Pubmed: 12966522 |
| Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome Journal of Medical Genetics 2000 Vol. 37 pp.610-612 Pubmed: 10991689 |
| Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.
Sequence variants within exon 1 of MECP2 occur in females with mental retardation American Journal of Medical Genetics Part B (Neuropsychiatric Genetics) 2007 Vol. 144B pp.355-360 Pubmed: 17171659 |
| Herman, GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL
Genetic testing in autism: how much is enough? Genetics in Medicine 2007 Vol. 9 pp.268-274 Pubmed: 17505203 |
| Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.
MeCP2 mutations in children with and without the phenotype of Rett Syndrome Neurology 2001 Vol. 56 pp.1486-1495 Pubmed: 11402105 |
| Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong
and Liem Nguyen Thanh
Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome BMC Medical Genetics 2018 Vol. 19 pp.137 Pubmed: 30081849 |
| Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome Neuropediatrics 2002 Vol. 33 pp.63-68 Pubmed: 12075485 |
| Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.
Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients Human Molecular Genetics 2000 Vol. 9 pp.1369-1375 Pubmed: 10814718 |
| Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne
MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male Journal of Medical Genetics 2001 Vol. 38 pp.171-174 Pubmed: 11238684 |
| Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome Brain & Development 2001 Vol. 23 pp.212-215 Pubmed: 11376998 |
| Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome Brain and Development 2001 Vol. 23 pp.161-164 Pubmed: 11738865 |
| Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, Steve S. Sommer
Detection of Heterozygous Deletions and Duplications in the MECP2 Gene in Rett Syndrome by Robust Dosage PCR (RD-PCR) Human Mutation 2005 Vol. 25 pp.505 Pubmed: 15841480 |
| Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism J Pediatr 2009 Vol. 155 pp.140-143 Pubmed: 19559301 |
| Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases J Med Genet 2004 Vol. 41 pp.e85 Pubmed: 15173251 |
| Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.
Early progressive encephalopathy in boys and MECP2 mutations Neurology 2006 Vol. 67 pp.164-166 Pubmed: 16832102 |
| Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K."
Early progressive encephalopathy in boys and MECP2 mutations Neurology 2006 Vol. 67 pp.164-166 Pubmed: 16832102 |
| Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.
Homozygosity for MECP2 gene in a girl with classical Rett syndrome European Journal of Medical Genetics 2007 Vol. 50 pp.465-468 Pubmed: 17881312 |
| Not published |
| Not published |
| Khajuria, R.
No title listed No journal listed |
| Not published |
| Not published |
| Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.
A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis Journal of Child Neurology 2011 Vol. 26 pp.209-213 Pubmed: 21285040 |
| Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.
Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation Brain & Development 201 Vol. 34 pp.28-31 Pubmed: 21300488 |
| Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.
Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation Brain & Development 2012 Vol. 34 pp.28-31 Pubmed: 21300488 |
| Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.
Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin Genetic Testing and Molecular Biomarkers 2009 Vol. 13 pp.277-280 Pubmed: 19371229 |
| Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.
Genetic and epileptic features in Rett syndrome Yonsei Med J 201 Vol. 53 pp.495-500 Pubmed: 22476991 |
| Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.
Genetic and epileptic features in Rett syndrome Yonsei Med J 2012 Vol. 53 pp.495-500 Pubmed: 22476991 |
| Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome Experimental and Molecular Medicine 2006 Vol. 38 pp.119-125 Pubmed: 16672765 |
| Kim, Soo-Jeong, Cook, Edwin H.
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome Human mutation 2000 Vol. 15 pp.382-383 Pubmed: 10737989 |
| Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz
Large Genomic Rearrangements in MECP2 Human mutation 2005 Vol. 25 pp.324 Pubmed: 15712379 |
| Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome American Journal of Human Genetics 2002 Vol. 70 pp.1034-1037 Pubmed: 11885030 |
| Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ
De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia Clinical Genetics 2002 Vol. 61 pp.359-362 Pubmed: 12081720 |
| Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.
Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2 Brain & Development 2012 Vol. 34 pp.601-604 Pubmed: 22001500 |
| Unpublished paper
Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert Unusual observations associated with novel C-terminal MECP2 mutations No journal listed 2005 |
| Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion European Journal of Pediatrics 2005 Vol. 164 pp.154-157 Pubmed: 15558314 |
| Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome Human Mutation 2004 Vol. 23 pp.234-244 Pubmed: 14974082 |
| Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions Human Mutation 2001 Vol. 17 pp.183-190 Pubmed: 11241840 |
| Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution Journal of Medical Genetics 2002 Vol. 39 pp.586-588 Pubmed: 12161600 |
| Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome Journal of Medical Genetics 2000 Vol. 37 pp.E41 Pubmed: 11106359 |
| Lebo RV, Ikuta T, Milunsky JM, Milunsky A
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region Clinical Genetics 2001 Vol. 59 pp.406-417 Pubmed: 11453972 |
| Lee SSJ, Wan M, Francke U
Spectrum of MECP2 mutations in Rett syndrome Brain & Development 2001 Vol. 23 pp.S138-S143 Pubmed: 11738860 |
| Lee, E.Y., Chung, H-.J., Ki, C.-S., Yoo, J.-H., Choi, J.R.
A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome Annals of Clinical & Laboratory Science 201 Vol. 41 pp.93-96 Pubmed: 21325263 |
| Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J
Trisomy 21 and Rett syndrome: a double burden J Paediatr Child Health 2004 Vol. 40 pp.406-409 Pubmed: 15228575 |
| Leonard, Helen, Silberstein, Jon, Falk, Rena, Houwink-Manville, Isa, Ellaway, Carolyn, Raffaele, Linda S., Engerström, Ingegerd Witt, and Schanen, Carolyn
Occurrence of Rett syndrome in boys Journal of Child Neurology 2001 Vol. 16 pp.333-338 Pubmed: 11392517 |
| Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation European Journal of Medical Genetics 2007 Vol. 50 pp.200-208 Pubmed: 17383248 |
| Not published |
| Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome Journal of Human Genetics 2007 Vol. 52 pp.38-47 Pubmed: 17089071 |
| Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.
Absence of MECP2 mutations in patients from the South Carolina autism project American Journal of Medical Genetics Part B 2003 Vol. 117B pp.97-101 Pubmed: 12555243 |
| Lundvall, M., Samuelsson, L., Kyllerman, M.
Male Rett phenotypes in T158M and R294X MeCP2-mutations Neuropediatrics 2006 Vol. 37 pp.296-301 Pubmed: 17236109 |
| M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome Journal of Medical Genetics 2005 Vol. 42 pp.e12 Pubmed: 15689435 |
| Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.
De novo MECP2 mutation in a 46,XX male patient with Rett patient Neurogenetics 2002 Vol. 4 pp.107-108 Pubmed: 12481990 |
| Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males) J Mol Diagn 201 Vol. 15 pp.723-729 Pubmed: 23810759 |
| Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.
MECP2 gene study in a large cohort Testing of 240 female patients and 861 healthy controls (519 females and 342 males) J Mol Diagn 2013 Vol. 15 pp.723-729 Pubmed: 23810759 |
| Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A
Germline mosaicism in Rett syndrome identified by prenatal diagnosis Clinical Genetics 2005 Vol. 67 pp.258-260 Pubmed: 15691364 |
| Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J
The MECP2 gene mutation screening in Rett Syndrome patients from Croatia Annals New York Academy of Sciences 2006 Vol. 1091 pp.225-232 Pubmed: 17341617 |
| Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.
The MECP2 gene mutation screening in Rett Syndrome patients from Croatia Annals New York Academy of Sciences 2006 Vol. 1091 pp.225-232 Pubmed: 17341617 |
| McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome? Eur J Paediatr Neuro 2010 Vol. 14 pp.267-269 Pubmed: 19592282 |
| Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra
A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males American Journal of Medical Genetics 2000 Vol. 67 pp.982-985 Pubmed: 10986043 |
| Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri
Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ) American Journal of Medical Genetics 2003 Vol. 119B pp.102-107 Pubmed: 12707946 |
| Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.
Mutation analysis in Rett syndrome Genetic Testing 2001 Vol. 5 pp.321-325 Pubmed: 11960578 |
| Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.
Distinct de novo deletions in a brother-sister pair with RTT: a case report American Journal of Medical Genetics B 201 Vol. 156B pp.859-863 Pubmed: 21812101 |
| Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.
Distinct de novo deletions in a brother-sister pair with RTT: a case report American Journal of Medical Genetics B 2011 Vol. 156B pp.859-863 Pubmed: 21812101 |
| Mittal, K., Kabra, M., Juyal, R., BK, T.
De novo deletion in MECP2 in a monozygotic twin pair: a case report BMC Medical Genetics 2011 Vol. 12 pp.113 Pubmed: 21871116 |
| Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J.M., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.H., Vincent, J.B., Minassian, B.A.
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome Nature Genetics 2004 Vol. 36 pp.339-341 Pubmed: 15034579 |
| Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling European Journal of Human Genetics 2002 Vol. 10 pp.86-89 Pubmed: 11896461 |
| Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients Brain & Development 2010 Vol. 32 pp.843-848 Pubmed: 20031356 |
| Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.
Rett syndrome in Spain: mutation analysis and clinical correlations Brain and Development 2001 Vol. 23 pp.S251-S253 Pubmed: 11738885 |
| Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients Brain & Development 2006 Vol. 28 pp.305-310 Pubmed: 16376510 |
| Moog, Ute, Smeets, Eric E. J., Van Roozendaal, Kees E. P., Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lessen, Anneke M. J., Schrander-Stumpel, Connie T. R. M.
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) European Journal of Paediatric Neurology 2003 Vol. 7 pp.5-12 Pubmed: 12615169 |
| Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto,
Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda,
Masako Saito, Shoichiro Tange, Kiyoshi Masuda,
Shoji Kagami,Issei Imoto
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation American Journalof Medical genetics 2018 Vol. 176(3) pp.699-702 Pubmed: 29341476 |
| Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo
DHPLC analysis of the MECP2 gene in Italian Rett patients Human mutation 2001 Vol. 18 pp.132-140 Pubmed: 11462237 |
| Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm European Journal of Human Genetics 2001 Vol. 9 pp.178-184 Pubmed: 11313756 |
| Nielsen JB, Ravn K, Schwartz M
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2 Brain & Development 2001 Vol. 23 pp.S230-S232 Pubmed: 11738879 |
| Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome Journal of Medical Genetics 2000 Vol. 37 pp.608-610 Pubmed: 10991688 |
| Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo
MECP2 mutation in male patients with non-specific X-linked mental retardation FEBS letters 2000 Vol. 481 pp.285-288 Pubmed: 11007980 |
| P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli
A novel familial MECP2 mutation in a young boy: Clinical and molecular findings Neurology 2006 Vol. 67 pp.867-868 Pubmed: 16966553 |
| Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.
Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome Clinical Genetics 2006 Vol. 70 pp.418-419 Pubmed: 17026625 |
| Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.
MECP2 gene mutation analysis in Chinese patients with Rett syndrome European Journal of Human Genetics 2002 Vol. 10 pp.484-486 Pubmed: 12111643 |
| Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.
Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation Journal of Child Neurology 2009 Vol. 24 pp.772-774 Pubmed: 19189931 |
| Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner
Very mild cases of Rett syndrome with skewed X inactivation Journal of Medical Genetics 2006 Vol. 43 pp.814-816 Pubmed: 16690727 |
| Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update European Journal of Medical Genetics 2006 Vol. 49 pp.9-18 Pubmed: 16473305 |
| Pieras, J.I., Muñoz-cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., Antiñolo, G.
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male Brain & Development 2011 Vol. 33 pp.608-611 Pubmed: 20970936 |
| Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.
Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia Molecular Psychiatry 2011 Vol. 16 pp.867-880 Pubmed: 20479760 |
| Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders Brain & Development 2012 Vol. 34 pp.487-495 Pubmed: 21982064 |
| Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.
Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion Pediatric Research 2010 Vol. 67 pp.551-556 Pubmed: 20098342 |
| Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang,
Jiarui Li, Liping Wei, Xiru Wu
Familial cases and male cases with MECP2 mutations American Journal of Medical Genetics 2017 Vol. 174(4) pp.451-457 Pubmed: 28394482 |
| Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.
Deleterious mutations in exon 1 of MECP2 in Rett syndrome European Journal of Medical Genetics 2006 Vol. 49 pp.313-322 Pubmed: 16829352 |
| Raizis, A.M., Saleem, M., MacKay, R., George, P.M.
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients New Zealand Medical Journal 2009 Vol. 122 pp.21-28 Pubmed: 19652677 |
| Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.
Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis Journal of Child Neurology 2011 Vol. 26 pp.65-71 Pubmed: 21212452 |
| Rania Ghorbel , Raouia Ghorbel , Aida Rouissi , Nourhene Fendri-Kriaa ,
Ghada Ben Salah , Neila Belguith , Leila Ammar-Keskes , Neziha Gouider-Khouja ,
Faiza Fakhfakh
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation Biochemical and Biophysical Research Communications 2018 Vol. 497 pp.93-101 Pubmed: 29421650 |
| Ravn, K., Nielsen, J.B., Schwartz, M.
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome Clinical Genetics 2005 Vol. 67 pp.532-533 Pubmed: 15857422 |
| Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations Orphanet Journal of Rare Diseases 2011 Vol. 6 pp.58 Pubmed: 21878110 |
| Rosa, Alberto L., Jankovic, Joseph and Ashizawa, Tetsuo
Screening for Mutations in the MECP2 (Rett Syndrome) Gene in Gilles de la Tourette Syndrome Archives of Neurology 2003 Vol. 60 pp.502-503 Pubmed: 12707062 |
| Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.
Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene Genomic Med 2008 Vol. 2 pp.77-81 Pubmed: 18810657 |
| Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation Disease Markers 2008 Vol. 24 pp.319-324 Pubmed: 18688080 |
| Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner
Clinical profile of a male with Rett syndrome Brain and Development 2005 Vol. 27 pp.S69-S71 Pubmed: 16182490 |
| Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome Am J Med Genet Part A 2009 Vol. 149A pp.1019-1023 Pubmed: 19365833 |
| Saxena, A., de Lagarde, D., Leonard, H., Williamson, S.L., Vasudevan, V., Christodoulou, J., Thompson, E., MacLeod, P., Ravine, D.
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2 J Med Genet 2006 Vol. 43 pp.470-477 Pubmed: 16155192 |
| Not published |
| Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome American Journal of Medical Genetics 2004 Vol. 126A pp.129-140 Pubmed: 15057977 |
| Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome Human Mutation 2003 Vol. 22 pp.116-120 Pubmed: 12872251 |
| Schule, B., Armstrong, D.D., Vogel, H., Oviedo, A., Francke, U.
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypozia and reduced neuronal dentritic structure Clinical Genetics 2008 Vol. 74 pp.116-26 Pubmed: 18477000 |
| Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene Neuropediatrics 2001 Vol. 32 pp.162-164 Pubmed: 11521215 |
| Sheen, V., Valencia, I.M., Torres, A.R.
Atypical features in MECP2 P152R-associated Rett syndrome Pediatric Neurology 2013 Vol. 49 pp.124-126 Pubmed: 23859859 |
| Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.
A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient Orphanet Journal of Rare Disorders 2013 Vol. 8 pp.108 Pubmed: 23866855 |
| Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.
Rett syndrome in adolescent and adult females American Journal of Medical Genetic 2003 Vol. 122A pp.227-233 Pubmed: 12966523 |
| Stachon, A., Assumpção, F.B. Jr, Raskin, S.
Rett Syndrome: Clinical and molecular characterization of two Brazilian patients Arq Neuropsiquiatr 2007 Vol. 65 pp.36-40 Pubmed: 17420824 |
| Stachon, A., Assumpção, F.B., Raskin, S.
Rett Syndrome: Clinical and molecular characterization of two Brazilian patients Arq Neuropsiquiatr 2007 Vol. 65 pp.36-40 Pubmed: 17420824 |
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Brief report: MECP2 mutations in people without Rett syndrome J Autism Dev Disord 201 Vol. 44 pp.703-711 Pubmed: 23921973 |
| Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.
Brief report: MECP2 mutations in people without Rett syndrome J Autism Dev Disord 2014 Vol. 44 pp.703-711 Pubmed: 23921973 |
| Takahashi, S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K
Skewed X chromosome inactiviation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome Clin Genet 2008 Vol. 73 pp.257-261 Pubmed: 18190595 |
| Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo
Classic Rett syndrome in a boy with R133C mutation of MECP2 Brain and Development 2005 Vol. 27 pp.439-442 Pubmed: 16122633 |
| Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M
Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation Clinical Genetics 2006 Vol. 70 pp.140-144 Pubmed: 16879196 |
| Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, and Irma Järvelä
MECP2 Mutation Analysis in Patients With Mental Retardation American Journal of Medical Genetics 2005 Vol. 132A pp.121-124 Pubmed: 15578581 |
| Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics European Journal of Human Genetics 2004 Vol. 12 pp.24-28 Pubmed: 14560307 |
| Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis Mutation Research 201 Vol. 734 pp.69-72 Pubmed: 22525432 |
| Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis Mutation Research 2012 Vol. 734 pp.69-72 Pubmed: 22525432 |
| Topcu, M., Akyerli, C., Sayi, A., Törüner, G.A., Koçoglu, S.R., Cimbis, M., Ozçelik, T.
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy European Journal of Human Genetics 2002 Vol. 10 pp.77-81 Pubmed: 11896459 |
| Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.
MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin American Journal of Human Genetics 2001 Vol. 68 pp.1093-1101 Pubmed: 11309679 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 40 pp.714-718 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 41 pp.714-719 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 42 pp.714-720 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 43 pp.714-721 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 44 pp.714-722 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 45 pp.714-723 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 46 pp.714-724 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 47 pp.714-725 Pubmed: 29631775 |
| Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi,
Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome Brain & Development 2018 Vol. 48 pp.714-726 Pubmed: 29631775 |
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Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation Neurology 2004 Vol. 63 pp.1968-1970 Pubmed: 15557528 |
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females Journal of Molecular Medicine 2001 Vol. 78 pp.684-655 Pubmed: 11269512 |
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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males American Journal of Human Genetics 2005 Vol. 77 pp.442-453 Pubmed: 16080119 |
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An explanation for another familial case of Rett syndrome: maternal germline mosaicism European Journal of Human Genetics 2007 Vol. 15 pp.902-904 Pubmed: 17440498 |
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Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation Developmental Medicine & Child Neurology 2014 Vol. 56 pp.91-94 Pubmed: 24328834 |
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Two affected boys in a Rett syndrome family Neurology 2000 Vol. 55 pp.1188-1193 Pubmed: 11071498 |
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Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome European Journal of Paediatric Neurology 2007 Vol. 11 pp.235-239 Pubmed: 17276711 |
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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots American Journal of Human Genetics 1999 Vol. 65 pp.1520-1529 Pubmed: 10577905 |
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Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients Journal of Peking University (Health Sciences) 201 Vol. 45 pp.197-201 Pubmed: 23591336 |
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Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients Journal of Peking University (Health Sciences) 2013 Vol. 45 pp.197-201 Pubmed: 23591336 |
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Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein Journal of Medical Genetics 2001 Vol. 38 pp.224-228 Pubmed: 11283202 |
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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation American Journal of Human Genetics 2004 Vol. 75 pp.1079-1093 Pubmed: 15492925 |
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Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening? Human Mutation 2002 Vol. 20 pp.249-252 Pubmed: 12325019 |
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Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder Journal of Child Neurology 2007 Vol. 22 pp.1397-1400 Pubmed: 18174559 |
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MECP2 mutations in Swedish Rett syndrome clusters Clinical Genetics 2002 Vol. 61 pp.384-385 Pubmed: 12081725 |
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Mutation screening in Rett syndrome patients Journal of Medical Genetics 2000 Vol. 37 pp.250-255 Pubmed: 10745042 |
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Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology 2014 Vol. 76(S18) pp.53 |
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Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation Human mutation 2001 Vol. 18 pp.253 Pubmed: 11524741 |
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Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech Brain & Development 2001 Vol. 23 pp.S157-S160 Pubmed: 11738864 |
| Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome Human Mutation 2002 Vol. 20 pp.323-324 Pubmed: 12325033 |
| Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H
Low frequency of MECP2 mutations in mentally retarded males European Journal of Human Genetics 2002 Vol. 10 pp.487-490 Pubmed: 12111644 |
| Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans
In-frame deletion in MeCP2 causes mild nonspecific mental retardation American Journal of Medical Genetics 2002 Vol. 107 pp.81-83 Pubmed: 11807877 |
| Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms Journal of Human Genetics 2007 Vol. 52 pp.342-348 Pubmed: 17387578 |
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Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms Journal of Human Genetics 2007 Vol. 52 pp.342-348 Pubmed: 17387578 |
| Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra
Preserved speech variants of the Rett syndrome: molecular and clinical analysis American Journal of Human Genetics 2001 Vol. 104 pp.14-22 Pubmed: 11746022 |
| Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation Molecular Autism 2017 Vol. 10:43 Pubmed: 28785396 |
| Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation Molecular Autism 2017 Vol. 8:43 Pubmed: 28785396 |
| Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation Molecular Autism 2017 Vol. 9:43 Pubmed: 28785396 |
| Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.
Molecular diagnostic dilemmas in Rett syndrome Brain & Development 201 Vol. 34 pp.750-755 Pubmed: 22277191 |
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Molecular diagnostic dilemmas in Rett syndrome Brain & Development 2012 Vol. 34 pp.750-755 Pubmed: 22277191 |
252 records found.