Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Primary lacrimal gland plexiform neurofibroma: a case report and review of the literature.
Orbit
; 42(5): 561-566, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312416
3.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
4.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
5.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet
; 26(3): 519-526, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053047
6.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 121(2): 180-192, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213659
7.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565421
8.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
9.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Hum Mol Genet
; 20(23): 4732-47, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890493
10.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792598
11.
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Hum Mol Genet
; 19(20): 4007-16, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656787
12.
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
Eur J Med Genet
; 65(10): 104572, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918038
13.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093
14.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
J Clin Oncol
; 40(14): 1529-1541, 2022 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077220
15.
Alpha-cardiac actin mutations produce atrial septal defects.
Hum Mol Genet
; 17(2): 256-65, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17947298
16.
Prostate Cancer Risk by BRCA2 Genomic Regions.
Eur Urol
; 78(4): 494-497, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532514
17.
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
Eur Urol
; 77(1): 24-35, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495749
18.
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer.
Eur Urol
; 68(2): 186-93, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454609
19.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Eur J Hum Genet
; 23(9): 1165-70, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424711
20.
Association of unilateral lattice corneal dystrophy on slit lamp and bilateral confocal microscopy features with H572R mutation in the TGFBI gene.
Eye (Lond)
; 33(12): 1973-1975, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270466