Detalhe da pesquisa
1.
Sebocyte differentiation as a new target for acne therapy: an in vivo experience.
J Eur Acad Dermatol Venereol
; 34(8): 1803-1814, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999869
2.
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
Clin Genet
; 85(5): 476-81, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692385
3.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Clin Genet
; 86(3): 246-51, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24003905
4.
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Clin Genet
; 85(3): 233-44, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23489061
5.
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.
Prenat Diagn
; 34(12): 1133-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24961405
6.
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
Dermatology
; 226(4): 353-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23899764
7.
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Clin Genet
; 80(2): 177-83, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20825432
8.
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
9.
Delineation of 15q13.3 microdeletions.
Clin Genet
; 78(2): 149-61, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236110
10.
Proinflammatory cytokine production in HaCaT cells treated by eosin: implications for the topical treatment of psoriasis.
Int J Immunopathol Pharmacol
; 22(4): 1067-75, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20074471
11.
Pharmacological PPARγ modulation regulates sebogenesis and inflammation in SZ95 human sebocytes.
Biochem Pharmacol
; 138: 96-106, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461124
12.
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.
J Clin Endocrinol Metab
; 81(2): 719-27, 1996 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-8636294
13.
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.
Eur J Hum Genet
; 3(5): 285-93, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-8556303
14.
Mosaic 46,XY/92,XXYY,del(5)(q13 q34) in an adult lymphoblastic leukemia.
Leuk Res
; 15(7): 651-3, 1991.
Artigo
em Inglês
| MEDLINE | ID: mdl-1861547
15.
Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.
Genet Couns
; 14(2): 165-72, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12872810
16.
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi.
Genet Couns
; 15(4): 429-36, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15658618
17.
[Diagnosis of a trisomy 21 in the first pregnancy trimester. Value of trophoblast sampling]. / Diagnostic d'une trisomie 21 au premier trimestre de la grossesse. Intérêt des prélèvements trophoblastiques.
J Gynecol Obstet Biol Reprod (Paris)
; 14(5): 583-5, 1985.
Artigo
em Francês
| MEDLINE | ID: mdl-2933446
18.
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. / Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d'Alsace entre 1995 et 2006.
Arch Pediatr
; 19(10): 1021-9, 2012 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-22925539
19.
Late onset stroke and myocardial infarction in Williams syndrome.
Eur J Neurol
; 13(12): e3-4, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17116204
20.
Genetic mosaicism in an acquired inflammatory dermatosis following the lines of Blaschko.
Arch Dermatol
; 136(6): 805-7, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10871961