Results 231 to 240 of about 1,265,960 (341)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang   +6 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

The Role of Hysteroscopy for the Treatment of Interstitial Ectopic Pregnancy: A Systematic Review. [PDF]

open access: yesJ Clin Med
Stabile G   +8 more
europepmc   +1 more source

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

open access: yesJOR SPINE, Volume 9, Issue 2, June 2026.
Overview of the effects of Pax1‐SAR deletion on gene expression, IVD degeneration, and resultant scoliotic‐like curvature between sexes. Proposed mechanism of sex‐dependent changes in gene expression in females (right) and males (left), resulting in sex‐dependent disc degeneration and scoliotic phenotypes.
Edward C. Moody   +4 more
wiley   +1 more source

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