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Celiac Male’s Gluten-Free Diet Profile: Comparison to that of the Control Population and Celiac Women
(MDPI, 2018-11)
The aim of the present work was to analyze the body composition and dietary profile of Spanish celiac men and to compare them to control men and celiac women from our previous studies. Forty-two celiac men (31.5 +/- 11.9 ...
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
(Public Library Science, 2017-03-13)
Introduction
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we ...
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
(Oxford Academic, 2019)
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been ...
Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA
(Public Library of Science, 2011-12-13)
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
(Frontiers Media, 2019-08-29)
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development ...
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
(Biomed Central, 2013-11)
Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large ...
Factores asociados a la prevalencia de hipovitaminosis D en mujeres embarazadas y sus recién nacidos
(Elsevier, 2018)
Introducción
El hallazgo de hipovitaminosis D en el embarazo ha impulsado el debate acerca de su suplementación. El objetivo del estudio fue medir la prevalencia de hipovitaminosis D en gestantes y recién nacidos.
Mé ...
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
(Public Library Science, 2019-07-31)
Objective
Monogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and influences genetic counseling. The main objective of ...
Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
(Public Library Science, 2015-02-24)
Context
Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with ...