Results 191 to 200 of about 2,599,794 (361)

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

Proximal Femoral Replacement for Prosthetic Hip Joint Infection. [PDF]

Cureus
Lakpriya S, Maling L, Jayasinghe G, Slack R.   +3 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

MRI of Hip Cartilage: Joint Morphology, Structure, and Composition

, 2012
Stephanie Gold, Alissa J. Burge, Hollis G. Potter   +2 more
openalex   +2 more sources

Mortality Following Hip Arthroplasty—Inappropriate Use of National Joint Registry (NJR) Data [PDF]

, 2014
Sarah L. Whitehouse, Benjamin J.R.F. Bolland, Jonathan R. Howell, Ross Crawford, A. John Timperley   +4 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Can predictive and functional methods locate the dysplastic hip joint center? [PDF]

Gait Posture
Harris MD, Behrman EC, Lohse KR, Shepherd MC, MacWilliams BA, Mannen EM.   +5 more
europepmc   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

Letter to the editor on “Titanium neck-titanium stem corrosion in a modular neck stem”

Arthroplasty Today, 2020
Kazuo Hirakawa, MD
doaj   +1 more source

Outcome of infantile septic arthritis of the hip joint: A two-children medical center's experience. [PDF]

BMC Musculoskelet Disord
Lin K, Ge Y, Wang Y, Xu Y, Han B.
europepmc   +1 more source