Results 211 to 220 of about 9,499,844 (341)

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

Cellular therapies in rheumatic and musculoskeletal diseases. [PDF]

J Transl Autoimmun
Franco-Fuquen P, Figueroa-Aguirre J, Martínez DA, Moreno-Cortes EF, Garcia-Robledo JE, Vargas-Cely F, Castro-Martínez DA, Almaini M, Castro JE.   +8 more
europepmc   +1 more source

Rééducation Posturale Globale in musculoskeletal diseases: scientific evidence and clinical practice

, 2011
Carla Vanti, Alexander Generali, Silvano Ferrari, Tiziana Nava, Daniele Tosarelli, Paolo Pillastrini   +5 more
openalex   +2 more sources

Global burden of osteoarthritis and musculoskeletal diseases [PDF]

, 2015
Anthony D. Woolf
openalex   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Musculoskeletal Diseases: Aetiology, Clinical Implications, Rehabilitation and Treatment. [PDF]

J Pers Med
Farì G, Bernetti A.
europepmc   +1 more source

Musculoskeletal and Neurologic Diseases

, 2012
Carley J. Giovanella, Natalie Antinoff
openaire   +2 more sources

Musculoskeletal Diseases: From Molecular Basis to Therapy. [PDF]

Biomedicines, 2023
Belluzzi E, Pozzuoli A, Ruggieri P.
europepmc   +1 more source

Homecare-based motor rehabilitation in musculoskeletal chronic graft versus host disease

, 2011
Andrea Tendas, Larissa Galastri Baraldi, Luca Cupelli, Malgorzata Monika Trawinska, M Ales, M Giovannini, Claudio Cartoni, William Arcese, Pasquale Niscola, Chiara Boschetto, Emiliano Caiazza, R Lentini, Massimiliano Palombi, Luciana Morino, L. Scaramucci, T Dentamaro, Paolo de Fabritiis, F Mandelli   +17 more
openalex   +2 more sources

Identifying Predictive Biomarkers of Response in Patients With Rheumatoid Arthritis Treated With Adalimumab Using Machine Learning Analysis of Whole‐Blood Transcriptomics Data

Arthritis &Rheumatology, EarlyView.
Objective Tumornecrosis factor inhibitors (TNFi) have significantly improved rheumatoid arthritis (RA) management, yet variability in patient response remains a substantial challenge, with approximately 40% of patients discontinuing TNFi due to nonresponse or adverse effects.
Chuan Fu Yap, Nisha Nair, Ann W. Morgan, John D. Isaacs, Anthony G. Wilson, Kimme Hyrich, Guillermo Barturen, María Riva‐Torrubia, Marta Gut, Ivo Gut, Marta E. Alarcón Riquelme, Anne Barton, Darren Plant   +12 more
wiley   +1 more source