Results 201 to 210 of about 1,771,041 (294)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

A scoping review and guide for in vitro healthy human knee joint laxity. [PDF]

open access: yesFront Bioeng Biotechnol
Seiferheld BE   +6 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

Brain and knee joint degeneration following anterior cruciate ligament injury in a mouse model of Alzheimer's disease. [PDF]

open access: yesJBMR Plus
Yao W   +9 more
europepmc   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila   +3 more
wiley   +1 more source

Effects of Medial Opening-Wedge High Tibial Osteotomy on 3-Dimensional Knee Joint Biomechanics and Trunk Posture. [PDF]

open access: yesOrthop J Sports Med
Suzuki Y   +11 more
europepmc   +1 more source

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

open access: yesAmerican 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

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