Results 131 to 140 of about 52,117 (235)

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Molecular Genetics & Genomic Medicine, 2020
C‐type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor‐B (NPR‐B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.
I. Hwang, Y. Mizuno, N. Amano, H. Lee, Y. Shim, Hyo-Kyoung Nam, Y. Rhie, Seung Yang, K. Lee, T. Hasegawa, M. Kang   +10 more
semanticscholar   +1 more source

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]

, 2017
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M   +6 more
core   +1 more source

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape [PDF]

, 2015
Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease.
Benito-Sanz, Sara, Callewaert, Bert, De Baere, Elfride, De Schepper, Jean, De Waele, Kathleen, Fernández-Miñán, Ana, François, Inge, Gómez-Skarmeta, José Luis, Heath, Karen Elise, Janssens, Sandra, Menten, Björn, Verdin, Hannah   +11 more
core   +3 more sources

Application of chromosomal microarray for evaluation of idiopathic short stature in Asian Indian children: A pilot study

Indian Journal of Endocrinology and Metabolism, 2018
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%–80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of ...
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur   +6 more
doaj   +1 more source

Correlation between adrenal function, growth hormone secretion, and insulin sensitivity in children with idiopathic growth hormone deficiency [PDF]

, 2017
Purpose Patients with growth hormone deficiency (GHD) demonstrate an increased cortisol/cortisone ratio which could potentially explain the metabolic features of GHD, while GH treatment (GHT) could increase the cortisol metabolism.
Bianco, J., Ciresi, A., Giordano, C., Guarnotta, V., Mineo, M., Radellini, S., Vigneri, E.   +6 more
core   +1 more source

Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency

Hormone Research in Paediatrics, 2016
Background/Aims: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH).
A. Grimberg, S. DiVall, C. Polychronakos, D. Allen, L. Cohen, J. B. Quintos, W. Rossi, C. Feudtner, M. Murad   +8 more
semanticscholar   +1 more source

SHOX deficiency in short Taiwanese children: A single-center experience

Journal of the Formosan Medical Association, 2018
Background: SHOX deficiency is a common cause of idiopathic short stature. The aim of this study was to describe the clinical characteristics and molecular findings of patients with SHOX deficiency in Taiwan.
Yi-Ching Tung, Ni-Chung Lee, Wuh-Liang Hwu, Shih-Yao Liu, Cheng-Ting Lee, Yin-Hsiu Chien, Wen-Yu Tsai   +6 more
doaj   +1 more source

Idiopathic short stature: Clinical-diagnostic criteria

Clinical endocrinology and endocrine surgery, 2013
This article focuses on current diagnostic criteria and clinical features patients with idiopathic short stature (ISS). According our data, part of such patients is 26.6% among patients with growth retardation referred to paediatric endocrinologist. We studied 41 cases of ISS (58.5% males). Familial history have 65.8% patients.
openaire   +4 more sources

Idiopathic Short Stature: Conundrums of Definition and Treatment [PDF]

International Journal of Pediatric Endocrinology, 2009
Children with idiopathic short stature (ISS) are statistically defined by height SDS < -2 for their bone age and should be distinguished from children with familial short stature for whom height SDS corresponds to mean parental SDS and from the most common explanation for short stature referred to pediatric endocrinologists, constitutional delay in ...
openaire   +2 more sources

Novel Biallelic SQSTM1 Mutation Causing a Subacute‐Onset Complex Movement Disorder with Oculomotor Abnormalities

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1995-2000, November 2025.
Ana Luísa de Almeida Marcelino, Nina‐Maria Wilpert, Jonas Leubner, Felix Boschann, Nadja Ehmke, Christoph J. Ploner, Tina Mainka, Markus Schuelke, Andrea A. Kühn   +8 more
wiley   +1 more source