P Saugier-Veber
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Explore the profile of P Saugier-Veber including associated specialties, affiliations and a list of published articles.
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29
Citations
615
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Recent Articles
1.
van der Sluijs P, Gosgens M, Dingemans A, Striano P, Riva A, Mignot C, et al.
Genet Med Open
. 2024 Dec;
2():101873.
PMID: 39669611
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the...
2.
Baer S, Afenjar A, Smol T, Piton A, Gerard B, Alembik Y, et al.
Clin Genet
. 2018 Mar;
94(1):141-152.
PMID: 29574747
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene...
3.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, et al.
Neurogenetics
. 2018 Mar;
19(2):93-103.
PMID: 29511999
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype...
4.
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, et al.
Clin Genet
. 2016 Oct;
91(4):576-588.
PMID: 27761913
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic...
5.
Puzenat E, Bellaud G, Saugier-Veber P, Cremillieux C, Mignot B, Humbert P, et al.
Ann Dermatol Venereol
. 2014 Apr;
141(4):290-4.
PMID: 24703644
Background: Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case...
6.
Ouesleti S, Brunel V, Turkia H, Dranguet H, Miled A, Miladi N, et al.
Clin Chim Acta
. 2011 Sep;
412(23-24):2326-31.
PMID: 21910976
Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results...
7.
Wallon D, Guyant-Marechal L, Laquerriere A, Wevers R, Martinaud O, Kluijtmans L, et al.
Clin Neuropathol
. 2010 Nov;
29(6):361-4.
PMID: 21073839
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP 27) with reduced or no chenodeoxycholic synthesis. This...
8.
Proust-Lemoine E, Saugier-Veber P, Lefebvre H, Lefranc D, Prin L, Weill J, et al.
Arch Pediatr
. 2010 Jul;
17(6):597-8.
PMID: 20654797
No abstract available.
9.
Proust-Lemoine E, Saugier-Veber P, Lefranc D, Dubucquoi S, Ryndak A, Buob D, et al.
Horm Res Paediatr
. 2010 May;
74(4):275-284.
PMID: 20453472
Background: Autoimmune polyendocrine syndrome type 1 (APS1) has been poorly evaluated in France. We focused on the north-western part of the country to describe clinical phenotypes, especially severe forms of...
10.
Goldenberg A, Saugier-Veber P
Pathol Biol (Paris)
. 2009 Nov;
58(5):331-42.
PMID: 19942372
Mental retardation affects nearly 3 % of the population. The causes of these disorders are various and are often not identified. Recent advances focused on the molecular basis of mental...