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1.
Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes.
Diabetologia
; 65(7): 1108-1118, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35488926
2.
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Orphanet J Rare Dis
; 17(1): 83, 2022 02 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35197096
3.
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Hum Mutat
; 32(6): 653-60, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21488135
4.
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
J Pediatr Endocrinol Metab
; 24(5-6): 297-301, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21823526
5.
Polar tagging in the synthesis of monodisperse oligo(p-phenyleneethynylene)s and an update on the synthesis of oligoPPEs.
Beilstein J Org Chem
; 6: 57, 2010 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20625532
6.
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Eur J Endocrinol
; 183(5): 497-504, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33107440
7.
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Horm Res Paediatr
; 93(3): 182-196, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32756064
8.
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.
J Endocr Soc
; 3(7): 1383-1389, 2019 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31286103
9.
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice.
Horm Res Paediatr
; 92(3): 150-156, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31707392
10.
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
Clin Chem
; 54(9): 1537-45, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18617581
11.
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
J Bone Miner Res
; 33(8): 1480-1488, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29693731
12.
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Nat Rev Endocrinol
; 14(8): 476-500, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29959430
13.
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
J Clin Endocrinol Metab
; 92(5): 1764-8, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17299070
14.
Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.
J Clin Res Pediatr Endocrinol
; 9(1): 74-79, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27425121
15.
Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Orphanet J Rare Dis
; 17(1): 169, 2022 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35440027
16.
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
J Bone Miner Res
; 32(4): 776-783, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28084650
17.
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Eur J Endocrinol
; 175(6): P1-P17, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27401862
18.
Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males.
Eur J Endocrinol
; 152(6): 875-80, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15941927
19.
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
Bone
; 71: 53-7, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25464124
20.
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.
Mol Genet Genomic Med
; 3(2): 111-20, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25802881