Detalhe da pesquisa
1.
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.
Prenat Diagn
; 44(3): 270-279, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38221678
2.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35264407
3.
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.
Am J Med Genet A
; 191(10): 2623-2630, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37365930
4.
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Prenat Diagn
; 42(7): 881-889, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34132406
5.
Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.
Prenat Diagn
; 42(8): 1038-1048, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35484937
6.
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Am J Med Genet A
; 182(5): 1143-1151, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32125084
7.
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
Prenat Diagn
; 38(2): 135-139, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29327352
8.
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
J Perinat Med
; 47(1): 30-34, 2018 Dec 19.
Artigo
Inglês
| MEDLINE | ID: mdl-29813032
9.
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.
Neurogenetics
; 16(1): 23-6, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25338135
10.
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
J Assist Reprod Genet
; 32(6): 887-91, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25899990
11.
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.
Traffic
; 13(4): 565-75, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22268962
12.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25123976
13.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
J Med Genet
; 50(4): 240-5, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23393310
14.
A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.
J Pediatr Adolesc Gynecol
; 37(1): 95-97, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37734585
15.
Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
J Cell Sci
; 123(Pt 18): 3112-24, 2010 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20736310
16.
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
Am J Med Genet A
; 158A(6): 1395-9, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22585544
17.
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs.
HGG Adv
; 3(2): 100092, 2022 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35199044
18.
Constitutive activity of the human TRPML2 channel induces cell degeneration.
J Biol Chem
; 285(4): 2771-82, 2010 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-19940139
19.
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).
Am J Med Genet A
; 155A(8): 1825-32, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21739571
20.
Is fetal isolated double renal collecting system an indication for chromosomal microarray?
J Matern Fetal Neonatal Med
; 34(5): 696-700, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31032679