Detalhe da pesquisa
1.
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Br J Dermatol
; 180(1): 172-180, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30141192
2.
[Child psychiatry interventions in patients with 22q11 deletion syndrome: From treatment to prevention]. / Prise en charge pédopsychiatrique des patients présentant un syndrome microdélétionnel 22q11.2 : du soin à la prévention.
Encephale
; 45(2): 175-181, 2019 Apr.
Artigo
Francês
| MEDLINE | ID: mdl-30470499
3.
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.
Clin Genet
; 93(2): 356-359, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28456137
4.
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Clin Genet
; 92(3): 298-305, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28295206
5.
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet
; 89(5): 630-5, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26582393
6.
A review of craniofacial disorders caused by spliceosomal defects.
Clin Genet
; 88(5): 405-15, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25865758
7.
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Am J Med Genet A
; 167(7): 1587-92, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25899569
8.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Clin Genet
; 84(6): 507-21, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23506379
9.
A duplication in the L1CAM gene associated with X-linked hydrocephalus.
Nat Genet
; 4(4): 421-5, 1993 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-8401593
10.
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nat Genet
; 12(4): 442-4, 1996 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-8630502
11.
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
Nat Genet
; 4(4): 346-50, 1993 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-8401580
12.
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nat Genet
; 14(3): 345-7, 1996 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-8896569
13.
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
Nat Genet
; 15(1): 21-9, 1997 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-8988164
14.
Mutant WD-repeat protein in triple-A syndrome.
Nat Genet
; 26(3): 332-5, 2000 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-11062474
15.
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Nat Genet
; 18(2): 171-3, 1998 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-9462749
16.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Int J Pediatr Otorhinolaryngol
; 171: 111606, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37336020
17.
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
J Med Genet
; 47(12): 797-802, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19643772
18.
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Hum Mutat
; 31(2): 113-26, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19894250
19.
microRNAs in diseases: from candidate to modifier genes.
Clin Genet
; 77(4): 306-13, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20132241
20.
Long-range regulation at the SOX9 locus in development and disease.
J Med Genet
; 46(10): 649-56, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19473998