Indexed keywords
ARTICLE;
CDKL5 GENE;
CLINICAL CLASSIFICATION;
CLINICAL GENETICS;
COPY NUMBER VARIATION;
DEVELOPMENTAL DISORDER;
DEVELOPMENTAL GENE;
DIAGNOSTIC REASONING;
DIFFERENTIAL DIAGNOSIS;
DISEASE CLASSIFICATION;
EPILEPSY;
FOXG1 GENE;
GENE DELETION;
GENE DUPLICATION;
GENE MUTATION;
GENETIC SCREENING;
GENETIC VARIABILITY;
HUMAN;
METHYL CPG BINDING PROTEIN 2 GENE;
MOLECULAR GENETICS;
PRACTICE GUIDELINE;
PRIORITY JOURNAL;
RETT SYNDROME;
SEX DIFFERENCE;
GENETICS;
MUTATION;
PHENOTYPE;
CYCLIN DEPENDENT KINASE INHIBITOR 2B;
FORKHEAD TRANSCRIPTION FACTOR;
FOXG1 PROTEIN, HUMAN;
MECP2 PROTEIN, HUMAN;
METHYL CPG BINDING PROTEIN 2;
NERVE PROTEIN;
CYCLIN-DEPENDENT KINASE INHIBITOR P15;
DIAGNOSIS, DIFFERENTIAL;
FORKHEAD TRANSCRIPTION FACTORS;
HUMANS;
METHYL-CPG-BINDING PROTEIN 2;
MUTATION;
NERVE TISSUE PROTEINS;
PHENOTYPE;
RETT SYNDROME;
1
0023888966
Diagnostic criteria for Rett syndrome: The Rett Syndrome Diagnostic Criteria Work Group
[No authors listed]
[No authors listed] Diagnostic criteria for Rett syndrome: The Rett Syndrome Diagnostic Criteria Work Group. Ann. Neurol. 23, 425-428 (1988).
(1988)
Ann. Neurol.
, vol.23
, pp. 425-428
2
0032830639
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
DOI 10.1038/13810
Amir, R. E., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185-188 (1999). (Pubitemid 29455390)
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 185-188
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
3
78650914440
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Percy, A. K., et al. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. 68, 951955 (2010).
(2010)
Ann. Neurol.
, vol.68
, pp. 951-955
Percy, A.K.1
4
78650903501
Rett syndrome: Revised diagnostic criteria and nomenclature
Neul, J. L., et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944950 (2010).
(2010)
Ann. Neurol.
, vol.68
, pp. 944-950
Neul, J.L.1
5
54949090865
Key clinical features to identify girls with CDKL5 mutations
Bahi-Buisson, N., et al. Key clinical features to identify girls with CDKL5 mutations. Brain 131, 2647-2661 (2008).
(2008)
Brain
, vol.131
, pp. 2647-2661
Bahi-Buisson, N.1
6
77954658447
Revisiting the phenotype associated with FOXG1 mutations: Two novel cases of congenital Rett variant
Bahi-Buisson, N., et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 11, 241-249 (2010).
(2010)
Neurogenetics
, vol.11
, pp. 241-249
Bahi-Buisson, N.1
7
78651298187
Congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis
Rajaei, S., et al. Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis. J. Child. Neurol. 26, 6571 (2011).
(2011)
J. Child. Neurol.
, vol.26
, pp. 65-71
Rajaei, S.1
Early Infantile Onset, E.2
8
78650306582
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
Temudo, T., et al. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain Dev. 33, 6976 (2011).
(2011)
Brain Dev.
, vol.33
, pp. 69-76
Temudo, T.1
9
34447297311
MECP2 mutations in males
DOI 10.1136/jmg.2007.049452
Villard, L. MECP2 mutations in males. J. Med. Genet. 44, 417-423 (2007). (Pubitemid 47056866)
(2007)
Journal of Medical Genetics
, vol.44
, Issue.7
, pp. 417-423
Villard, L.1
10
0033365401
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
DOI 10.1086/302690
Wan, M., et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65, 1520-1529 (1999). (Pubitemid 30468664)
(1999)
American Journal of Human Genetics
, vol.65
, Issue.6
, pp. 1520-1529
Wan, M.1
Lee, S.S.J.2
Zhang, X.3
Houwink-Manville, I.4
Song, H.-R.5
Amir, R.E.6
Budden, S.7
Naidu, S.8
Pereira, J.L.P.9
Lo, I.F.M.10
Zoghbi, H.Y.11
Schanen, N.C.12
Francke, U.13
11
33744731756
Identification of cis-regulatory elements for MECP2 expression
DOI 10.1093/hmg/ddl099
Liu, J. & Francke, U. Identification of cis- regulatory elements for MECP2 expression. Hum. Mol. Genet. 15, 1769-1782 (2006). (Pubitemid 43821767)
(2006)
Human Molecular Genetics
, vol.15
, Issue.11
, pp. 1769-1782
Liu J.Jinglan1
Francke, U.2