Results 81 to 90 of about 228,760 (347)

Are Men Cheaper Than Women? Insights From Walking Economy [PDF]

open access: yes, 2012
ARE MEN CHEAPER THAN WOMEN? INSIGHTS FROM WALKING ECONOMY Nicole S. Schultz and Peter G. Weyand Southern Methodist University, Locomotor Performance Laboratory, Department of Applied Physiology and Wellness, Dallas, TX 75205 Introduction: The metabolic ...
Schultz, Nicole S, Weyand, Peter G
core   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

open access: yes, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne   +9 more
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

open access: yesJCRPE
Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor.
Basma Haris   +4 more
doaj   +1 more source

Climate effects and stature since 1800 [PDF]

open access: yes, 2018
During the last 30 years, economic and social historians have collected and analysed large amounts of anthropometric data in order to explore key aspects of the human past.
Andrew Hinde   +36 more
core   +3 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Economic inequality in prevalence of underweight and short stature in children and adolescents: the weight disorders survey of the CASPIAN-IV study

open access: yesArchives of Endocrinology and Metabolism, 2020
Objective: The aim of this study was to determine the determinants of socio-economic inequality in the prevalence of short stature and underweight in Iranian children and adolescents.
Ramin Heshmat   +10 more
doaj   +1 more source

Metabolic syndrome and short stature in adults from the metropolitan area of São Paulo city (SP, Brazil) [PDF]

open access: yes, 2011
A desnutrição pregressa, expressa pela baixa estatura, pode ser fator de risco para síndrome metabólica (SM). O objetivo deste estudo foi verificar a prevalência de SM e sua relação com a baixa estatura, possível resultante de desnutrição crônica na ...
ARAÚJO, Eutália Aparecida Cândido de   +2 more
core   +2 more sources

Syndromic Disorders with Short Stature

open access: yesJournal of Clinical Research in Pediatric Endocrinology, 2014
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader ...
Zeynep Şıklar, Merih Berberoğlu
openaire   +3 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

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