Detalhe da pesquisa
1.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388224
2.
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
Am J Obstet Gynecol
; 223(2): 256.e1-256.e9, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283072
3.
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
4.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439109
5.
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
6.
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
em Inglês
| MEDLINE | ID: mdl-23820807
7.
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
8.
Williams-Beuren syndrome: the prenatal phenotype.
Am J Obstet Gynecol
; 205(6): e6-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22000898
9.
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
10.
Fetal diagnosis of right cardiac ventricular aneurysms: A report of three cases.
J Gynecol Obstet Hum Reprod
; 47(9): 481-485, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932991
11.
Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys.
Prenat Diagn
; 25(10): 876-8, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16193462