Results 171 to 180 of about 2,981 (206)

Pseudohypoparathyroidism type 1B – a rare cause of tetany: case report

Paediatrics and International Child Health, 2018
Catia R Correia, Lurdes Lopes
exaly  

Pseudohypoparathyroidism

1979
openaire   +2 more sources

PSEUDOHYPOPARATHYROIDISM

Acta Paediatrica, International Journal of Paediatrics, 1976
Ivar Øye, I Oye
exaly  

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

Human Mutation, 2015
Manuel C Lemos, Rajesh V Thakker
exaly  

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Molecular Genetics & Genomic Medicine, 2015
Susanne Thiele, Ralf Werner, Benedikt Reiz   +2 more
exaly  

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Human Mutation, 2011
Susanne Thiele, Luisa De Sanctis, Ralf Werner   +2 more
exaly  

Different Pattern of Epigenetic Changes of theGNASGene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification ofGNAS-Related Disorders

Journal of Clinical Endocrinology and Metabolism, 2014
Ralf Werner, Olaf Hiort, Susanne Thiele   +2 more
exaly  

Pseudohypoparathyroidism

VideoEndocrinology, 2022
openaire   +1 more source

Pseudohypoparathyroidism.

Proceedings of the Royal Society of Medicine, 2004
P M F, BISHOP, R R, DE MOWBRAY
openaire   +3 more sources

High field MR imaging of the brain in pseudohypoparathyroidism

Neuroradiology, 1990
Furukawa T
exaly