Detalhe da pesquisa
1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
2.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051115
3.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet
; 101(2): 255-259, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713892
4.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612517
5.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Br J Dermatol
; 187(6): 948-961, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986704
6.
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
Am J Hum Genet
; 103(2): 213-220, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075112
7.
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
Reprod Biomed Online
; 43(5): 899-902, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497033
8.
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
Clin Genet
; 96(6): 515-520, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31441039
9.
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
Am J Med Genet A
; 179(3): 404-409, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628148
10.
Reliability of HSP70 (HSPA) expression as a prognostic marker in glioma.
Mol Cell Biochem
; 393(1-2): 301-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833463
11.
Investigation into the potential for hypoxic interior of neoplasms to enhance HSPA expression in glioma.
Mol Cell Biochem
; 394(1-2): 53-8, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833466
12.
Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use.
J Clin Transl Sci
; 7(1): e115, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37250990
13.
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Clin Dysmorphol
; 32(1): 7-13, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503917
14.
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease.
Kidney Int Rep
; 8(7): 1417-1429, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37441484
15.
Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.
J Pediatr Urol
; 18(3): 362.e1-362.e8, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491304
16.
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.
JAMA Pediatr
; 176(5): 486-492, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311942
17.
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Elife
; 112022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124557
18.
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Front Genet
; 13: 896125, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35812751
19.
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Commun Biol
; 5(1): 1203, 2022 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36352089
20.
The Genomic Architecture of Bladder Exstrophy Epispadias Complex.
Genes (Basel)
; 12(8)2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440323