相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Rett syndrome: clinical peculiarities and biological mysteries
B Hagberg
ACTA PAEDIATRICA (2008)
FOXG1 is responsible for the congenital variant of Rett syndrome
Francesca Ariani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
Filomena Tiziana Papa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
Elisa Scala et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
Anne-Marie Bisgaard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
SA Shoichet et al.
HUMAN GENETICS (2005)
Foxg1 suppresses early cortical cell fate
C Hanashima et al.
SCIENCE (2004)
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
A Erlandson et al.
GENETIC TESTING (2003)
Rett syndrome - Current status and new vistas
AK Percy
NEUROLOGIC CLINICS (2002)
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes
D Kamnasaran et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
MD Shahbazian et al.
CURRENT OPINION IN NEUROLOGY (2001)
Rett syndrome:: a surprising result of mutation in MECP2
J Dragich et al.
HUMAN MOLECULAR GENETICS (2000)
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