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.
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Genet Med
; 23(2): 331-340, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082559
3.
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
4.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
5.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Am J Med Genet A
; 182(5): 1236-1242, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052936
6.
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Am J Med Genet A
; 179(4): 639-644, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767363
7.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A
; 176(5): 1091-1098, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681083
8.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595068
9.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Genet Med
; 19(9): 989-997, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151489
10.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
11.
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Birth Defects Res A Clin Mol Teratol
; 106(1): 36-46, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663670
12.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Am J Hum Genet
; 91(6): 1135-43, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217329
13.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145
14.
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.
Proc Natl Acad Sci U S A
; 109(42): 16951-6, 2012 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23027964
15.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024289
16.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Hum Mutat
; 31(10): 1134-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20690116
17.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Hum Mutat
; 31(5): E1319-31, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232449
18.
PAX2 mutations in fetal renal hypodysplasia.
Am J Med Genet A
; 152A(4): 830-5, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358591
19.
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.
Brain Pathol
; 29(1): 114-125, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30020561
20.
A practical approach to the examination of the malformed fetal brain: impact on genetic counselling.
Pathology
; 40(2): 180-7, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18203040