Results 131 to 140 of about 2,495,332 (299)

Musculoskeletal Diseases in Adolescence

Journal of the Royal College of Physicians of London, 2000
J, Clinch, P, Hollingworth
openaire   +2 more sources

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Tickborne diseases of the United States : a reference manual for health care providers. Fouth edition, 2017 [PDF]

Based on \u201cTickborne Diseases in Massachusetts: A Physician\u2019s Reference Manual\u201d, produced by collaboration between MDPH, Nancy Shadick, MD, MPH, and Nancy Maher, MPH of the RBB Arthritis and Musculoskeletal Diseases Clinical Research Center

core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Tickborne diseases of the United States : a reference manual for health care providers. Second edition, 2014. [PDF]

First ed., 2013.Based on \u201cTickborne Diseases in Massachusetts: A Physician\u2019s Reference Manual\u201d, produced by collaboration between MDPH, Nancy Shadick, MD, MPH, and Nancy Maher, MPH of the RBB Arthritis and Musculoskeletal Diseases Clinical

core  

Interobserver reliability in musculoskeletal ultrasonography: results from a "Teach the Teachers" rheumatologist course. [PDF]

, 2006
OBJECTIVE: To assess the interobserver reliability of the main periarticular and intra-articular ultrasonographic pathologies and to establish the principal disagreements on scanning technique and diagnostic criteria between a group of experts in ...
de Agustín JJ, Torp Pedersen S, Balint P, Terslev L, FILIPPUCCI, Emilio, GRASSI, Walter, Scheel AK, Mayordomo L, Uson J, Möller I, Kane D, Moragues C, Werner C, de Miguel E, Szkudlarek M, D'Agostino MA, Naredo E, Swen WA, Koski JM, Schmidt WA, Iagnocco A, Bruyn GA, Backhaus M, Wakefield RJ, EULAR Working Group for Musculoskeletal Ultrasound   +24 more
core  

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Musculoskeletal Complications in Rheumatic Diseases

Rheumatic diseases comprise a heterogeneous group of disorders that affect not only the joints but also multiple organ systems throughout the body. Because of chronic inflammation and immunosuppressive therapies, these conditions are often associated ...
Seunghun Lee, JeongAh Ryu, Yeo Ju Kim
core   +1 more source