Results 91 to 100 of about 52,117 (235)

Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS ...
Ylenia Giorgianni, Cecilia Lugarà, Francesca Franchina, Mariella Valenzise, Giorgia Pepe, Tommaso Aversa   +5 more
doaj   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 606-618, March 2026.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Pituitary-adrenal axis in Prader Willi syndrome [PDF]

, 2016
Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was
Edgar, Olivia S., Lucas-Herald, Angela K., Shaikh, Mohamad Guftar   +2 more
core   +2 more sources

GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE

Wiadomości Lekarskie, 2023
The aim: To investigate the clinical and genetic characteristics of children with idiopathic short stature, taking into account the polymorphism of the vitamin D receptor (VDR) BsmI gene. Materials and methods: Eighteen children diagnosed with of idiopathic short stature who were treated at the State Institution «V.P.
Mariana, Ryznychuk, Olena, Bolshova, Dmytro, Kvachenyuk, Natalya, Sprinchuk, Tetiana, Malinovska   +4 more
openaire   +2 more sources

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Impaired GH Secretion in Patients with SHOX Deficiency and Efficacy of Recombinant Human GH Therapy. [PDF]

, 2012
Background/Aims: Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature.
Bertelloni S, Capone L, Gastaldi R, IUGHETTI, Lorenzo, Maggio MC, Mazzanti L, Pirazzoli P, PREDIERI, Barbara, Radetti G, Stasiowska B, Street ME, Vannelli S   +11 more
core   +1 more source

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN ‐Related Short Stature

Clinical Genetics, Volume 109, Issue 2, Page 374-379, February 2026.
This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman, Ayman Asaly, Hadas Ityel, Ben Pode‐Shakked, Dalit Modan‐Moses, Yael Levy‐Shraga   +5 more
wiley   +1 more source

First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Study Objective We reported a rare case of 1p36 deletion syndrome diagnosed using whole‐exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource‐limited settings.
Nesrine Kerkeni, Maher Kharrat, Lilia Kraoua, Ahlem Achour, Faouzi Maazoul, Ridha Mrad, Mediha Trabelsi   +6 more
wiley   +1 more source

Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]

, 2019
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J, Lehwalder, D, Pfäffle, R, Tatton-Brown, K   +3 more
core   +1 more source

Type 1 Diabetes and Other Autoimmune Diseases—Epidemiology, Pathophysiology and Screening

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 1, January 2026.
Individuals with type 1 diabetes exhibit significantly increased prevalence of additional autoimmune diseases. Epidemiological, familial and mechanistic evidence indicates frequent polyautoimmunity and shared genetic and environmental drivers. Coexistence complicates clinical management, and autoantibody‐based detection often identifies preclinical ...
George J. Kahaly, Thomas Forst, Monika Kellerer, Stefanie Lanzinger, René D. Rötzer, Matthias Schott, Petra‐Maria Schumm‐Draeger   +6 more
wiley   +1 more source