Results 211 to 220 of about 69,264 (288)

Severe Short Stature and rhGH Resistance in a Child Born SGA: The Role of a Novel IGF1R Mutation, Case Report and Narrative Review. [PDF]

Children (Basel)
Luppino G, Ini' E, Morabito LA, Abbate T, Lugarà C, Aversa T, Wasniewska M, Corica D.   +7 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

[Corrigendum] Hsa_circularRNA_0079201 suppresses chondrocyte proliferation and endochondral ossification by regulating the microRNA‑140‑3p/SMAD2 signaling pathway in idiopathic short stature. [PDF]

Int J Mol Med
Liu X, Yan C, Deng X, Jia J.
europepmc   +1 more source

Variability in Permanent Teeth Eruption in Children with Growth Hormone Deficiency and Idiopathic Short Stature. [PDF]

J Clin Med
Torlińska-Walkowiak N, Sowińska A, Majewska KA, Kędzia A, Opydo-Szymaczek J.   +4 more
europepmc   +1 more source

Anthropometric patterns in children with moderate‐to‐severe atopic dermatitis: Cross‐sectional insights from the TREATkids cohort

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives The relationship between atopic dermatitis (AD), weight, height, and body mass index (BMI) in children and adolescents and the impact of systemic treatments is controversial. We report the distribution of weight, height, and BMI in the German TREATkids cohort compared to a standardized German cohort (Kromeyer‐Hauschild)
Barbara Kind, Doreen Siegels, Hagen Ott, Susanne Abraham, René Sachse, Katharina Lönnecke, Inken Harder, Annice Heratizadeh, Katja Nemat, Christian Vogelberg, Dora Stölzl, Ines Gellhaus, Susanne Lau, Mehrak Yoosefi Moridani, Thomas Werfel, Stephan Weidinger, Jochen Schmitt, the TREATgermany study group   +17 more
wiley   +1 more source

Children with craniopharyngioma resection had better response to recombinant human growth hormone therapy than those with idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Li T, Li C, Wang X, Nie M, Wu X, Mao J.
europepmc   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Short-stature maize systems reduce carbon intensity of grain production by an average of 13% compared to commercially relevant tall comparators. [PDF]

J Environ Qual
Dohleman FG, Barten T, Kosola KR, Reiman M, Petersen M, Tichota J, Recker R, Hammer DJ, Gold A, Olson B, Orr T, Mueller S.   +11 more
europepmc   +1 more source

Sex‐specific differences in the prevalence of intermediate hyperglycaemia states: A systematic review and meta‐analysis

Diabetic Medicine, EarlyView.
There are sex‐specific disparities in the prevalence of different isolated intermediate hyperglycaemic states, which, in the context of clinical guidance to use FPG or HbA1c for identification, may contribute to underdiagnosis and undertreatment in primary care and introduce ascertainment bias into research and policy. Abstract Aims To evaluate the sex‐
Louise Cooper, Ian Porter, Claire Meek, Simon J. Griffin, Amy Ahern   +4 more
wiley   +1 more source