Results 171 to 180 of about 1,002,032 (284)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

Distribution of Gastrointestinal and Dietary Risk Factors Among U.S. Adults Classified as Having Iron Deficiency Anemia Across Diagnostic Thresholds

open access: yes
American Journal of Hematology, EarlyView.
Omar Al Ta’ani   +6 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Identifying neurophenotypes of major depressive disorder through normative model of regional homogeneity. [PDF]

open access: yesTransl Psychiatry
Luo Z   +14 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard   +6 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

The degenerome-a novel streamline-wise approach for white matter integrity in neurodegeneration. [PDF]

open access: yesNPJ Parkinsons Dis
Hosp JA   +10 more
europepmc   +1 more source

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