Detalhe da pesquisa
1.
Morphological and genetic causes of fetal cardiomyopathies.
Clin Genet
; 104(1): 63-72, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209000
2.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
3.
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
Prenat Diagn
; 42(5): 574-582, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278234
4.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
5.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227665
6.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058622
7.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
8.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614526
9.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
10.
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Prenat Diagn
; 36(13): 1270-1275, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859469
11.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754886
12.
Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease.
BMC Pregnancy Childbirth
; 15: 137, 2015 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26081109
13.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111715
14.
[Incidental intraplacental gestational choriocarcinoma on a full-term placenta]. / Choriocarcinome gestationnel intra-placentaire de découverte fortuite sur un placenta à terme.
Ann Pathol
; 34(2): 119-23, 2014 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-24703021
15.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
16.
[Placental pathology of uteroplacental vascular deficiency]. / Anatomie pathologique de l'insuffisance vasculaire utéroplacentaire.
Ann Pathol
; 33(4): 230-6, 2013 Aug.
Artigo
em Francês
| MEDLINE | ID: mdl-23954115
17.
[Cardiac tamponade with anterior interventricular vein thrombosis complicating central venous catheter insertion in a neonate]. / Tamponnade sur thrombose de la veine interventriculaire antérieure compliquant un cathétérisme veineux central chez un nouveau-né
Ann Pathol
; 32(3): 217-9, 2012 Jun.
Artigo
em Francês
| MEDLINE | ID: mdl-22748341
18.
Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis.
Hum Reprod
; 26(10): 2651-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840909
19.
An Atypical Case of Congenital Erythropoietic Porphyria.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828434
20.
Occupational Exposure to Ultrafine Particles and Placental Histopathological Lesions: A Retrospective Study about 130 Cases.
Int J Environ Res Public Health
; 18(23)2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886445