Results 211 to 220 of about 85,930 (296)

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

American 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, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Ruptured primary intrahepatic ectopic pregnancy: A case report and review of literature. [PDF]

World J Clin Cases
Bhati G, Mongardini FM, Bhati K, Singh P, Bansal R, Bansal A, Mahajan S, Docimo L, Caricato M, Capolupo GT, Carannante F.   +10 more
europepmc   +1 more source

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

American 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, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Exploring the level of knowledge related to ectopic pregnancy among married Saudi women. [PDF]

Front Glob Womens Health
Almutairi W, Gouda ADK, Almutiri S, Alhashemi R, Almubaraki R, Alshehri H, Almadhabri F.   +6 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American 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, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Comparison of tubal reanastomosis and in vitro fertilisation for restoring fertility in women with a history of tubal ligation. [PDF]

BMC Pregnancy Childbirth
Fu Y, Ma L, Chen A, Du J, Sun G, Wang J, Li X, Lin X, Ou Z.   +8 more
europepmc   +1 more source

Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome Cardiomyopathy

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic SCN5A p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje‐origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function.
Jonathan L. Ciofani, Hariharan Raju, Malcolm Anastasius   +2 more
wiley   +1 more source

Clinical Profile of Ectopic Pregnancy in a Tertiary Care Center: A Five-Year Retrospective Study. [PDF]

JNMA J Nepal Med Assoc
Chudal D, Shrestha A, Manandhar R, Thakur S, Kharel D, Shrestha U, Basnet B.   +6 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

JOR 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, Emma M. Wade, Shuji Mizumoto, Jeremy McCallum‐Loudeac, Megan J. Wilson   +4 more
wiley   +1 more source

Transplantations of Ectopic Pregnancy from Fallopian Tube to Cavity of Uterus [PDF]

, 1995
Wallace, C. J.
core   +1 more source