Detalhe da pesquisa
1.
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report.
J Geriatr Psychiatry Neurol
; 37(2): 157-162, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548032
2.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
J Med Genet
; 56(4): 252-260, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661052
3.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392890
4.
Germline mutations in MAP3K6 are associated with familial gastric cancer.
PLoS Genet
; 10(10): e1004669, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340522
5.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Am J Gastroenterol
; 111(2): 275-84, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729549
6.
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Am J Med Genet A
; 164A(1): 62-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243649
7.
The mental health and traumatic experiences of mothers of children with 22q11DS.
Eur J Psychotraumatol
; 15(1): 2353532, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38780146
8.
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Am J Hum Genet
; 87(1): 40-51, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598275
9.
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
PLoS Genet
; 6(8)2010 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20865121
10.
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Am J Hum Genet
; 85(1): 120-9, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19576563
11.
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Neurology
; 96(13): e1783-e1791, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568546
12.
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
Matrix Biol
; 88: 1-18, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726086
13.
Genetic education for primary care providers: improving attitudes, knowledge, and confidence.
Can Fam Physician
; 55(12): e92-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20008584
14.
Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Med Clin North Am
; 103(6): 1005-1019, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31582001
15.
Genetics: schizophrenia.
Can Fam Physician
; 55(12): 1207, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20008600
16.
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Nat Genet
; 43(4): 360-4, 2011 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21358631
17.
Interactive genetic counseling role-play: a novel educational strategy for family physicians.
J Genet Couns
; 17(2): 189-95, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18231847