Detalhe da pesquisa
1.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hum Mol Genet
; 21(12): 2768-78, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422767
2.
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
Clin Endocrinol (Oxf)
; 84(3): 463-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401884
3.
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).
Hum Mutat
; 31(1): E1089-101, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953642
4.
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
Clin Endocrinol (Oxf)
; 73(6): 715-22, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20846291
5.
Genetic background influences tumour development in heterozygous Men1 knockout mice.
Endocr Connect
; 9(5): 426-437, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32348957
6.
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.
Endocr Connect
; 2020 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961795
7.
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
Nephron Physiol
; 112(2): p27-36, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19390221
8.
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Nephron Physiol
; 112(4): p53-62, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19546591
9.
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
10.
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
11.
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
J Clin Invest
; 115(10): 2832-42, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16167086
12.
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
Nat Clin Pract Endocrinol Metab
; 4(1): 53-8, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18084346
13.
A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
J Clin Endocrinol Metab
; 90(9): 5386-92, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15985493
14.
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
J Clin Endocrinol Metab
; 87(6): 2688-93, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12050235
15.
GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.
Horm Cancer
; 4(3): 123-39, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23435732
16.
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.
J Clin Endocrinol Metab
; 97(10): E1995-2005, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22855342
17.
MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas.
Cancer Res
; 72(19): 5060-8, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22915754
18.
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
Eur J Hum Genet
; 18(4): 442-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19809483
19.
Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.
J Clin Endocrinol Metab
; 94(10): 3640-6, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19622622
20.
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Hum Mol Genet
; 16(3): 265-75, 2007 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17210674