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1.
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination.
J Autoimmun;
124: 102728, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34592707
2.
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Clin Endocrinol (Oxf);
90(3): 449-456, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30548673
3.
Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.
Pediatr Res;
79(2): 258-61, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26536448
4.
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Clin Endocrinol (Oxf);
83(6): 849-60, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26147833
5.
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.
Nephrology (Carlton);
19(4): 202-9, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24387224
6.
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders.
Biomedicines;
11(4)2023 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37189745
7.
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants.
Front Endocrinol (Lausanne);
14: 1143736, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37251668
8.
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Front Endocrinol (Lausanne);
14: 1212729, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37501786
9.
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients.
Melanoma Res;
33(5): 425-430, 2023 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37352544
10.
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Genes (Basel);
13(12)2022 11 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36553457
11.
COVID-19 first lockdown and outpatient hospital setting: a single center, real life study focusing on pattern changes in patients' ethnicities and treated dermatoses.
Ital J Dermatol Venerol;
157(5): 414-418, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35666665
12.
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Mol Genet Genomic Med;
10(1): e1793, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34811950
13.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Front Genet;
13: 875182, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36035117
14.
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature.
Front Genet;
12: 708864, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34456977
15.
A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.
Genes (Basel);
12(11)2021 10 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34828315
16.
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Eur J Hum Genet;
29(1): 110-121, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32647378
17.
The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
Amyotroph Lateral Scler Frontotemporal Degener;
21(3-4): 273-279, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31852254
18.
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
BMC Med Genomics;
12(1): 5, 2019 01 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30626445
19.
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.
J Clin Endocrinol Metab;
93(3): 1005-12, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18160466
20.
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.
Mol Cell Endocrinol;
249(1-2): 51-7, 2006 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-16517055