Detalhe da pesquisa
1.
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
Hum Mol Genet
; 30(24): 2393-2401, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274969
2.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature
; 526(7571): 112-7, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26367794
3.
Correction: Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
PLoS Genet
; 14(3): e1007257, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29494589
4.
Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
PLoS Genet
; 13(8): e1006866, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28806749
5.
HLA and KIR Associations of Cervical Neoplasia.
J Infect Dis
; 218(12): 2006-2015, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30099516
6.
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Hum Mol Genet
; 24(5): 1234-42, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25343988
7.
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Am J Med Genet A
; 173(6): 1698-1704, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422394
8.
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
Am J Hum Genet
; 93(3): 515-23, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910462
9.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183451
10.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Hum Mol Genet
; 22(8): 1625-31, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335591
11.
Comparative pathogenomics reveals horizontally acquired novel virulence genes in fungi infecting cereal hosts.
PLoS Pathog
; 8(9): e1002952, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23028337
12.
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
Clin Endocrinol (Oxf)
; 80(1): 25-33, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24102379
13.
Minimizing Sample Failure Rates for Challenging Clinical Tumor Samples.
J Mol Diagn
; 25(5): 263-273, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773702
14.
A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.
JCI Insight
; 6(13)2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032641
15.
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
J Clin Endocrinol Metab
; 106(4): 1163-1182, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33367756
16.
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.
J Bone Miner Res
; 35(1): 92-105, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31525280
17.
HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome.
Arthritis Rheumatol
; 71(10): 1642-1650, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038287
18.
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
J Bone Miner Res
; 34(7): 1324-1335, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830987
19.
An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
J Bone Miner Res
; 34(3): 497-507, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30395686
20.
A census of human cancer genes.
Nat Rev Cancer
; 4(3): 177-83, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14993899