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Unpublished paper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Unpublished paper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Unpublished paper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Unpublished paper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Unpublished paper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Unpublished paper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
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
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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
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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
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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
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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
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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
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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
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MeCP2 mutations in children with and without the phenotype of Rett Syndrome
Neurology
2001 Vol. 56 pp.1486-1495
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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
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Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
Neuropediatrics
2002 Vol. 33 pp.63-68
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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
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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
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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
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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
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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
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Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ
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Clinical Genetics
2002 Vol. 61 pp.359-362
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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
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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
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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
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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
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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
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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
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Lee SSJ, Wan M, Francke U
Spectrum of MECP2 mutations in Rett syndrome
Brain & Development
2001 Vol. 23 pp.S138-S143
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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
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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
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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
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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
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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
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Lundvall, M., Samuelsson, L., Kyllerman, M.
Male Rett phenotypes in T158M and R294X MeCP2-mutations
Neuropediatrics
2006 Vol. 37 pp.296-301
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Molecular Psychiatry
2011 Vol. 16 pp.867-880
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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
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Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion
Pediatric Research
2010 Vol. 67 pp.551-556
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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
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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
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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
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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
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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
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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
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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
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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
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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
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2008 Vol. 2 pp.77-81
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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
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2008 Vol. 24 pp.319-324
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Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner
Clinical profile of a male with Rett syndrome
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2005 Vol. 27 pp.S69-S71
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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
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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
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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
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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
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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
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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
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Sheen, V., Valencia, I.M., Torres, A.R.
Atypical features in MECP2 P152R-associated Rett syndrome
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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
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American Journal of Medical Genetic
2003 Vol. 122A pp.227-233
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2007 Vol. 65 pp.36-40
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Stachon, A., Assumpção, F.B., Raskin, S.
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2007 Vol. 65 pp.36-40
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201 Vol. 44 pp.703-711
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2008 Vol. 73 pp.257-261
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Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo
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2005 Vol. 27 pp.439-442
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2006 Vol. 70 pp.140-144
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American Journal of Medical Genetics
2005 Vol. 132A pp.121-124
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2004 Vol. 12 pp.24-28
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201 Vol. 734 pp.69-72
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2012 Vol. 734 pp.69-72
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2002 Vol. 10 pp.77-81
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2001 Vol. 68 pp.1093-1101
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2018 Vol. 40 pp.714-718
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MECP2 mutation in a boy with severe apnea and sick sinus syndrome
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2018 Vol. 41 pp.714-719
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Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka
MECP2 mutation in a boy with severe apnea and sick sinus syndrome
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2018 Vol. 42 pp.714-720
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MECP2 mutation in a boy with severe apnea and sick sinus syndrome
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2018 Vol. 43 pp.714-721
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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
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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
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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
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2018 Vol. 48 pp.714-726
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201 Vol. 45 pp.197-201
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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
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2002 Vol. 20 pp.249-252
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2007 Vol. 22 pp.1397-1400
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2000 Vol. 37 pp.250-255
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2001 Vol. 23 pp.S157-S160
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American Journal of Medical Genetics
2002 Vol. 107 pp.81-83
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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
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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
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2001 Vol. 104 pp.14-22
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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
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2017 Vol. 10:43
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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
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2017 Vol. 8:43
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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
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2017 Vol. 9:43
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Molecular diagnostic dilemmas in Rett syndrome
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2012 Vol. 34 pp.750-755
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