Results 101 to 110 of about 4,480,801 (360)

Short stature-wormian bones-dextrocardia syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

Journal of the Endocrine Society, 2017
Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation,
C. Tatsi, A. Gkourogianni, K. Mohnike, Diana DeArment, S. Witchel, A. C. Andrade, T. Markello, J. Baron, O. Nilsson, Y. Jee   +9 more
semanticscholar   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Simple anthropometric and physical performance tests to predict maximal box-lifting ability [PDF]

, 2007
Box-lifting ability is an important characteristic of military personnel. The purpose of this paper was to determine the usefulness of the upright row free weight exercise, and simple anthropometric tests, to predict maximal box-lifting performance that ...
Wilkinson, Mick, Williams, Alun
core   +1 more source

The Rationale for Growth Hormone Therapy in Children with Short Stature

Journal of Clinical Research in Pediatric Endocrinology, 2017
Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone.
A. Deodati, S. Cianfarani
semanticscholar   +1 more source

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source

Sex steroid priming for growth hormone stimulation testing in children and adolescents with short stature: A systematic review [PDF]

, 2022
Gregor Duncan, Sarah Kiff, Rod T. Mitchell   +2 more
openalex   +1 more source

Impact of short stature on quality of life: A systematic literature review.

Growth Hormone & IGF Research, 2021
P. Backeljauw, M. Cappa, W. Kiess, L. Law, C. Cookson, C. Sert, J. Whalen, M. Dattani   +7 more
semanticscholar   +1 more source