Detalhe da pesquisa
1.
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.
Genet Med;
24(2): 463-474, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906518
2.
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
Eur J Pediatr;
174(10): 1373-85, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25902753
3.
Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
Clin Nephrol;
81(2): 142-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22854161
4.
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
BMC Med Genet;
14: 119, 2013 Nov 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24252324
5.
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
J Clin Endocrinol Metab;
105(4)2020 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32052034
6.
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
PLoS One;
15(9): e0239965, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32997713
7.
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
Eur J Endocrinol;
180(1): 59-70, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30407919
8.
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.
Endocrinol Diabetes Metab Case Rep;
20182018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30530875
9.
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
PLoS One;
12(3): e0173581, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28288174
10.
A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.
Endocr Pathol;
27(2): 142-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26995009
11.
Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus.
J Clin Endocrinol Metab;
105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32392319
12.
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
PLoS One;
8(9): e74673, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24058621
13.
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Pediatr Nephrol;
20(7): 891-6, 2005 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15875219
14.
Analysis of the expression of MICA in small intestinal mucosa of patients with celiac disease.
J Clin Immunol;
23(6): 498-503, 2003 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15031637