Results 161 to 170 of about 159,829 (340)

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark   +15 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

open access: yesHepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel   +93 more
wiley   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Impact of Obstetrical Emergency Code (Code Pink) Activation on Maternal and Neonatal Outcomes: A Retrospective Study. [PDF]

open access: yesCureus
AlMulai I   +7 more
europepmc   +1 more source

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