Results 51 to 60 of about 5,787 (168)
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 +3 more
wiley +1 more source
Journal of Medical SciencesTrisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
doaj +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
ObgyniaIntroduction: Holoprosencephaly is a rare brain malformation caused by the failure of the prosencephalon to divide into separate cerebral hemispheres. Alobar holoprosencephaly, the most severe form, presents with a monoventricle, lack of interhemispheric
Aryani Aziz , Uqbah Abdul Salam
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Molecular Genetics of Holoprosencephaly [PDF]
Fetal and Pediatric Pathology, 2000 Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected ...
L, Nanni, R L, Schelper, M T, Muenke
openaire +2 more sources
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma
Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
wiley +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 756-770, May 2026.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source