Results 81 to 90 of about 69,264 (288)
We report a 12-year-old girl with developmental delay, dysmorphic features, and short stature initially diagnosed with growth hormone deficiency at age 7.
Rachid Abilkassem +3 more
core +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Idiopathic short stature. Is it a disease? [PDF]
, 2014 This bachelor thesis is focused on idiopathic short stature. Idiopathic short stature can be found a tup to 80% of children, who suffer from growth disorders. I tis a short stature without definite reasons.
Šneberková, Klára
core
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
45,X/47,XXX Mosaicism and Short Stature
Case Reports in Pediatrics, 2015 We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters.
Erica Everest +5 more
doaj +1 more source
IGF1 haploinsufficiency in children with short stature: a case series.
, 2021 CONTEXT: Short stature in children is a common reason for referral to pediatric endocrinologists. The underlying cause of short stature remains unclear in many cases and patients often receive unsatisfactory, descriptive diagnoses.
Alev, Nuriya +6 more
core +1 more source
The 9+ month marathon: How pregnancy may have shaped human endurance capacities
The Anatomical Record, EarlyView.Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan +3 more
wiley +1 more source
Rich and slim, but relatively short Explaining the halt in the secular trend in Japan [PDF]
An almost complete halt in the secular trend in stature at a relatively low level is observed in Japan since the late 1980s with average height of around 171 cm for males and 158 cm for females at age 18.
Kato, Noriko, Bassino, Jean-Pascal
core
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, Accepted Article.Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz +13 more
wiley +1 more source