Results 171 to 180 of about 215,986 (300)

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

Esclerosis Sistémica Juvenil con Afectación del Sistema Nervioso Central: Reporte de Caso

open access: yesRevista Reumatología al Día
La esclerosis sistémica juvenil (ESJ) es una enfermedad rara del tejido conectivo, de origen desconocido, caracterizado por aumento del depósito de colágeno que produce fibroris y degeneración de la piel y de órganos internos.
Elizabeth Nicole Garzón Palacios   +2 more
doaj  

Living with type 1 diabetes mellitus: experiences of Colombian teenagers and parents. [PDF]

open access: yesRev Esc Enferm USP
Moreno CB   +5 more
europepmc   +1 more source

Predictors of Relapse and Post‐Relapse Outcomes After Frontline Blinatumomab in Philadelphia Chromosome‐Negative B‐ALL

open access: yes
American Journal of Hematology, EarlyView.
Sankalp Arora   +18 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +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

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