Results 131 to 140 of about 812,768 (341)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Measuring Overweight: A Note [PDF]

open access: yes
The Body Mass Index (BMI) provides a biased assessment of individual weight condition when there are substantial frame and muscle size deviations from the average for a given height. A method for overcoming this problem is presented.
Levy, Amnon
core  

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Occupational therapy in overweight and obesity care: Australian perspectives from a mixed methods study

open access: yesScandinavian Journal of Occupational Therapy
Background Obesity and being overweight can hinder participation in daily activities and impact engagement. Occupational therapists offer a unique perspective on this issue, yet their practice is seldom described in the literature.Aim To explore how ...
Kieva Richards   +3 more
doaj   +1 more source

Overweight and Obesity are Risk Factors for Coronavirus Disease 2019: A Propensity Score-Matched Case-Control Study

open access: diamond, 2021
Wonjun Ji   +7 more
openalex   +1 more source

Childhood overweight and obesity and back pain risk: a cohort study of 466 997 children [PDF]

open access: gold, 2020
Antony Palmer   +8 more
openalex   +1 more source

Leptin levels were negatively associated with lumbar spine bone mineral content in children with overweight or obesity [PDF]

open access: bronze, 2022
José J. Gil‐Cosano   +9 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

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