scholarly article | Q13442814 |
case report | Q2782326 |
P50 | author | Stanislas Lyonnet | Q7598948 |
Tania Attié-Bitach | Q28322360 | ||
Sophie Thomas | Q79318101 | ||
P2093 | author name string | S 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 | |||
P2860 | cites work | Cloning 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 syndrome | Q24336096 | ||
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse | Q24672496 | ||
Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules | Q24803465 | ||
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation | Q28202743 | ||
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum | Q28252393 | ||
Interstitial deletion of (17)(p11.2p11.2) in nine patients | Q28302314 | ||
SUMO1 haploinsufficiency leads to cleft lip and palate | Q28586545 | ||
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases | Q33593556 | ||
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 syndromes | Q34501287 | ||
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions | Q35447397 | ||
The ubiquitin-proteasome pathway | Q35821591 | ||
Alzheimer's disease meets the ubiquitin-proteasome system | Q35935356 | ||
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome | Q45163832 | ||
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 syndrome | Q48254701 | ||
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 syndrome | Q74598697 | ||
A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families | Q79249796 | ||
Modification of Msx1 by SUMO-1 | Q83296468 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Smith-Magenis syndrome | Q2295338 |
cleft palate | Q3889390 | ||
P304 | page(s) | 537-540 | |
P577 | publication date | 2007-04-27 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | 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 | |
P478 | volume | 44 |
Q36873807 | A genomewide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp.). |
Q53215516 | Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. |
Q53944182 | Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. |
Q52855131 | Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis. |
Q50795886 | What can we learn from old microdeletion syndromes using array-CGH screening? |
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