Results 211 to 220 of about 300,158 (341)

Exercise for osteoarthritis of the hip and knee [PDF]

, 2016
Howe, Tracey
core   +1 more source

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

American 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, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study. [PDF]

Front Immunol
Hu L, Wan S, Song X.
europepmc   +1 more source

Dynamics of indices of primary disability of the child population due to diseases of the musculoskeletal system for the period of 2005-2014 in the Altai Territory

, 2016
Л Г Григоричева, И В Тимошникова, Alena Goncharenko, Takesi Akopyan, Nina A. Korenyak, Б А Самарин   +5 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Community engagement in health guidelines and other normative products: a methodological review. [PDF]

Bull World Health Organ
Bohren MA, Zahroh RI, Vazquez Corona M, Santos TM, Booth A, Bonet M, Betrán AP, Tunçalp Ö.   +7 more
europepmc   +1 more source

А. V. Rutsky, A. N. Mikhailov. "X-ray Diagnostic Atlas." Minsk "Vysheyshaya shkola". 1987.- PART I. Diseases of musculoskeletal system. Part II. Diseases of internal organs - 320 p.

, 1989
A. E. Dmitriev, B. N. Kryukov
openalex   +2 more sources

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Prevalence of Musculoskeletal Conditions in Heart Patients Undergoing Cardiovascular Rehabilitation Programs: A Systematic Review and Meta-Analysis. [PDF]

Cureus
Straioto Salomão A, Soares Piquione F, Bitencourt Soares de Oliveira C, Campagnolo Gonçalves Toledo AC.   +3 more
europepmc   +1 more source