Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

scientific article published on 27 April 2007

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.1136/JMG.2006.048736
P932PMC publication ID2597929
P698PubMed publication ID17468296
P5875ResearchGate publication ID6362265

P50authorStanislas LyonnetQ7598948
Tania Attié-BitachQ28322360
Sophie ThomasQ79318101
P2093author name stringS Manouvrier
M Vekemans
P Bitoun
J-P Kerckaert
S Geffroy
B Delobel
J Andrieux
B Benzacken
C Roumier
S Quief
M-C de Blois
C Villenet
H de Leersnyder
S Lignon
P2860cites workCloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)Q24291727
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndromeQ24336096
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseQ24672496
Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubulesQ24803465
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradationQ28202743
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumQ28252393
Interstitial deletion of (17)(p11.2p11.2) in nine patientsQ28302314
SUMO1 haploinsufficiency leads to cleft lip and palateQ28586545
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new casesQ33593556
Linkage 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.Q34389987
22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromesQ34501287
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletionsQ35447397
The ubiquitin-proteasome pathwayQ35821591
Alzheimer's disease meets the ubiquitin-proteasome systemQ35935356
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeQ45163832
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.Q46716515
Mutations in RAI1 associated with Smith-Magenis syndromeQ48254701
Overview of Smith-Magenis syndrome.Q48520729
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]Q48611267
Definition of the critical interval for Smith-Magenis syndromeQ74598697
A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian familiesQ79249796
Modification of Msx1 by SUMO-1Q83296468
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectSmith-Magenis syndromeQ2295338
cleft palateQ3889390
P304page(s)537-540
P577publication date2007-04-27
P1433published inJournal of Medical GeneticsQ14640281
P1476titleGenotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
P478volume44

Reverse relations

cites work (P2860)
Q36873807A genomewide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp.).
Q53215516Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.
Q53944182Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Q52855131Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis.
Q50795886What can we learn from old microdeletion syndromes using array-CGH screening?

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