Detalhe da pesquisa
1.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32732226
2.
The Pubic Diastasis Measurement, a Key Element for the Diagnosis, Management, and Prognosis of the Bladder Exstrophy.
Fetal Diagn Ther
; 45(6): 435-440, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30231253
3.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25754886
4.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22323514
5.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23024289
6.
Posterior fossa solitary fibrous tumour: report of a fetal case and review of the literature.
J Neurooncol
; 101(2): 297-300, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20526796
7.
Identification of proteomic changes during human liver development by 2D-DIGE and mass spectrometry.
J Hepatol
; 51(1): 114-26, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19443070
8.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Mol Genet Genomic Med
; 7(11): e00895, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31493343
9.
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Eur J Hum Genet
; 24(4): 611-4, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26395554
10.
Postnatal diagnosis of lipoblastoma in a foetus presenting with hydrocephaly.
Prenat Diagn
; 29(9): 882-3, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19455590
11.
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Prenat Diagn
; 29(11): 1085-8, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19777540
12.
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Epigenetics
; 9(7): 1007-17, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24782114
13.
Prevalence and timing of pregnancy termination for brain malformations.
Arch Dis Child Fetal Neonatal Ed
; 96(5): F360-4, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21252198
14.
Prader-Willi syndrome: is there a recognizable fetal phenotype?
Prenat Diagn
; 28(9): 796-9, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18661490