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。Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases
E. A. Edelman et al.
CLINICAL GENETICS (2007)
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)
Santhosh Girirajan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Craniofacial and dental phenotype of Smith-Magenis syndrome
Natalia Tomona et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome
Weimin Bi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
Jennifer A. Lee et al.
NEURON (2006)
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
Andrea L. Gropman et al.
PEDIATRIC NEUROLOGY (2006)
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions
S Girirajan et al.
JOURNAL OF MEDICAL GENETICS (2005)
Polydactyly in a boy with Smith-Magenis syndrome
L MarianneJensen et al.
CLINICAL DYSMORPHOLOGY (2005)
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
WM Bi et al.
HUMAN MOLECULAR GENETICS (2005)
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene
CN Vlangos et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms
CJ Shaw et al.
HUMAN GENETICS (2005)
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome
N Boddaert et al.
NEUROIMAGE (2004)
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
CJ Shaw et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
WM Bi et al.
HUMAN GENETICS (2004)
Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia
A Toulouse et al.
GENOMICS (2003)
Refinement of the Smith-Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions.: Are all deletions created equally?
CN Vlangos et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Mutations in RAI1 associated with Smith-Magenis syndrome
RE Slager et al.
NATURE GENETICS (2003)
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis
AE Schlesinger et al.
PEDIATRIC RADIOLOGY (2003)
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
CJ Shaw et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval:: Transcription map, genomic contig, and candidate gene analysis
RE Lucas et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
N Liburd et al.
HUMAN GENETICS (2001)
β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome
H De Leersnyder et al.
JOURNAL OF MEDICAL GENETICS (2001)
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
H De Leersnyder et al.
JOURNAL OF PEDIATRICS (2001)
Otorhinolaringologic manifestation of Smith-Magenis syndrome
M Di Cicco et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2001)
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients
P Seranski et al.
GENE (2001)
The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators
C Rekdal et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
L Potocki et al.
JOURNAL OF MEDICAL GENETICS (2000)