Detalhe da pesquisa
1.
[Secondary surgeries in craniosynostosis and faciocraniosynostosis]. / Chirurgie secondaire des craniosténoses et faciocraniosténoses.
Ann Chir Plast Esthet
; 64(5-6): 494-505, 2019 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-31521419
2.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clin Genet
; 94(1): 141-152, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574747
3.
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Clin Genet
; 92(1): 91-98, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067412
4.
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Clin Genet
; 91(6): 868-880, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229453
5.
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
Clin Genet
; 89(1): 68-73, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677961
6.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
7.
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Clin Genet
; 89(5): 584-9, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26701315
8.
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
em Inglês
| MEDLINE | ID: mdl-26582393
9.
[Craniofacial strategy for syndromic craniosynostosis]. / Stratégie craniofaciale pour les faciocraniosténoses.
Ann Chir Plast Esthet
; 61(5): 408-419, 2016 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-27692993
10.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clin Genet
; 87(3): 244-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635570
11.
12.
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
Clin Genet
; 83(3): 251-6, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22670894
13.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Clin Genet
; 84(6): 507-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23506379
14.
Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia.
Ultrasound Obstet Gynecol
; 42(2): 161-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22945478
15.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
16.
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nat Genet
; 19(1): 67-9, 1998 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9590292
17.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Int J Pediatr Otorhinolaryngol
; 171: 111606, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336020
18.
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
J Dent Res
; 102(6): 616-625, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951356
19.
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Orphanet J Rare Dis
; 17(1): 100, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241104
20.
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
em Inglês
| MEDLINE | ID: mdl-19643772