Detalhe da pesquisa
1.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
2.
Clinical management and outcome of head and neck paragangliomas (HNPGLs): A single centre retrospective study.
Clin Endocrinol (Oxf)
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696538
3.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
4.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142645
5.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
6.
Sebaceous Carcinoma Arising in Ovarian Teratoma: First Report Associated With Germline Mismatch Repair Gene Mutation.
Int J Gynecol Pathol
; 41(6): 608-614, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077082
7.
Association of prolactin receptor (PRLR) variants with prolactinomas.
Hum Mol Genet
; 28(6): 1023-1037, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445560
8.
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Lancet
; 395(10240): 1855-1863, 2020 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534647
9.
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Genes Chromosomes Cancer
; 59(6): 333-347, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943436
10.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579715
11.
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Cerebellum
; 19(1): 161-163, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721007
12.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
13.
Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.
Cochrane Database Syst Rev
; 10: CD012894, 2019 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595976
14.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
15.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
16.
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
17.
Changing antiepilepsy drug-prescribing trends in women with epilepsy in the UK and Ireland and the impact on major congenital malformations.
J Neurol Neurosurg Psychiatry
; 89(12): 1320-1323, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661925
18.
Autosomal dominant inheritance with sex-limited manifestation: The jury is still out.
Am J Med Genet A
; 191(6): 1675-1676, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37089086
19.
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain
; 140(5): 1204-1211, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334938
20.
Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin.
Fetal Pediatr Pathol
; 37(4): 276-281, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30273087