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.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29459493
3.
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
Inglês
| MEDLINE | ID: mdl-26166481
4.
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Prenat Diagn
; 36(13): 1270-1275, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27859469
5.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25754886
6.
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review.
Clin Neuropathol
; 34(2): 70-5, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25492889
7.
Systemic increase in human maternal circulating CD14+CD16- MCP-1+ monocytes as a marker of labor.
Am J Obstet Gynecol
; 210(1): 70.e1-9, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23994222
8.
Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis.
Prenat Diagn
; 39(9): 806-810, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30681164
9.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nat Genet
; 37(9): 964-8, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16116425
10.
From theory to practice: challenges and rewards of implementing ketogenic metabolic therapy in mental health.
Front Nutr
; 11: 1331181, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38389794
11.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23820807
12.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22323514
13.
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
J Med Genet
; 49(11): 713-20, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23125460
14.
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
15.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22095942
16.
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Front Mol Neurosci
; 15: 871557, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35571366
17.
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Front Mol Neurosci
; 14: 757646, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35002618
18.
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
Eur J Med Genet
; 50(1): 48-53, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17067864
19.
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
Eur J Med Genet
; 50(1): 85-91, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17056308
20.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Eur J Med Genet
; 60(11): 595-604, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28807864