Detalhe da pesquisa
1.
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
2.
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
3.
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Nature
; 463(7281): 671-5, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20130649
4.
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
5.
Pilot study of submucosal radiofrequency for epistaxis in hereditary hemorrhagic telangiectasia.
Rhinology
; 51(4): 355-60, 2013 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24260769
6.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
J Med Genet
; 47(6): 377-84, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522426
7.
Delineation of 15q13.3 microdeletions.
Clin Genet
; 78(2): 149-61, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236110
8.
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
J Neurol Neurosurg Psychiatry
; 80(12): 1394-8, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917821
9.
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
J Med Genet
; 39(10): 714-7, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12362026
10.
[Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases]. / Hyperéchogénicité intestinale fÅtale : quel bilan proposer et quel pronostic ? À propos d'une série continue de 149 patientes.
J Gynecol Obstet Biol Reprod (Paris)
; 44(6): 558-64, 2015 Jun.
Artigo
em Francês
| MEDLINE | ID: mdl-25282096
11.
New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.
Am J Med Genet
; 80(4): 429-34, 1998 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-9856577
12.
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
Am J Med Genet
; 90(5): 351-5, 2000 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10706353
13.
Brachmann-de Lange syndrome: pre- and postnatal findings.
Am J Med Genet
; 62(3): 268-73, 1996 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-8882785
14.
[Embryofetopathy due to valproate: a pathology only little known. Apropos of 4 cases]. / Embryofoetopathie au valproate: une pathologie encore trop mal connue. A propos de quatre observations.
Arch Pediatr
; 3(9): 896-9, 1996 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-8949354
15.
[Small intestine atresia and abnormal insertion of the umbilicus in a child with fetal alcohol syndrome]. / Atrésie de l'intestin grêle et implantation anormale de l'ombilic chez un enfant présentant une foetopathie alcoolique.
Arch Pediatr
; 4(7): 650-2, 1997 Jul.
Artigo
em Francês
| MEDLINE | ID: mdl-9295903
16.
[Prenatal diagnosis of osteogenesis imperfecta. Two cases]. / Le diagnostic anténatal de l'ostéogenèse imparfaite. A propos de deux observations.
J Gynecol Obstet Biol Reprod (Paris)
; 27(1): 44-51, 1998 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-9583044
17.
[An ischemic pulmonary malformation of the surviving fetus occurring after selective embryo reduction in bichorionic pregnancy. Report of one case and literature review]. / Une anomalie pulmonaire ischémique inhabituelle du foetus survivant après interruption sélective sur grossesse bichoriale. A propos d'un cas et revue de la littérature.
J Gynecol Obstet Biol Reprod (Paris)
; 30(5): 467-72, 2001 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-11598561
18.
[Trisomy 18: ultrasound aspects. Report of 40 cases]. / Trisomie 18: aspects échographiques. A propos de 40 observations.
Presse Med
; 29(38): 2082-6, 2000 Dec 09.
Artigo
em Francês
| MEDLINE | ID: mdl-11147045
19.
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Neuromuscul Disord
; 21(11): 782-90, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21727005
20.
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
J Med Genet
; 41(11): e117, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15520399