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。PSYCHOLOGICAL CHARACTERISTICS OF SOTOS SYNDROME
S. C. Rutter et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
Ulrich Zechner et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
Maria Berdasco et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
BMC MEDICAL GENETICS (2007)
Sotos syndrome
Genevieve Baujat et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Analysis of 88 adult patients referred for genetics evaluation
Stephanie N. Maves et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Sotos syndrome is associated with leukemia/lymphoma
Victor Martinez-Glez et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Neuroradiologic findings in Sotos syndrome
Hiroko Horikoshi et al.
JOURNAL OF CHILD NEUROLOGY (2006)
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome:: a comparison between patients with and without NSD1 gene alterations
L. de Boer et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2006)
Clinical and molecular overlap in overgrowth syndromes
G Baujat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Genotype-phenotype associations in Sotos syndrome:: An analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
A case of Sotos syndrome (cerebral gigantism) and psychosis
MT Compton et al.
PSYCHOPATHOLOGY (2004)
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of weaver syndrome but are rare in other overgrowth phenotypes
J Douglas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion
N Kurotaki et al.
HUMAN MUTATION (2003)
Haploinsufficiency of NSD1 causes Sotos syndrome
N Kurotaki et al.
NATURE GENETICS (2002)
Unilateral glaucoma in Sotos syndrome (cerebral gigantism)
MT Yen et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2000)
Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism)
K Inoue et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2000)
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