Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesDisruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxSmith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityDisruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesFliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic developmentGenes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeCytogenomic Aberrations in Congenital Cardiovascular MalformationsNeurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesMolecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionAttention deficit/hyperactivity disorder (ADHD): complex phenotype, simple genotype?Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Langebeta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndromeCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Sleep in Neurodevelopmental Disorders.Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeSurgical treatment of scoliosis in Smith-Magenis syndrome: a case reportRole of individual subunits of the Neurospora crassa CSN complex in regulation of deneddylation and stability of cullin proteins.The COP9 signalosome regulates the Neurospora circadian clock by controlling the stability of the SCFFWD-1 complexMolecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeLinkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.Possible third case of Lin-Gettig syndrome.Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesMolecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.The face of Smith-Magenis syndrome: a subjective and objective study.RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeStroke after cardiac surgery in a patient with Smith-Magenis syndromeBehavioral disturbance and treatment strategies in Smith-Magenis syndromeCongenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
P2860
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P2860
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
@en
Multi-disciplinary clinical study of Smith-Magenis syndrome
@nl
type
label
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
@en
Multi-disciplinary clinical study of Smith-Magenis syndrome
@nl
prefLabel
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
@en
Multi-disciplinary clinical study of Smith-Magenis syndrome
@nl
P2093
P1476
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
@en
P2093
Friedman E
Greenberg F
McCluggage C
P304
P356
10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
P577
1996-03-01T00:00:00Z