Results 211 to 220 of about 44,922 (298)

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková   +8 more
wiley   +1 more source

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Paternal uniparental disomy of chromosome 6 (UPD6pat) is associated with transient neonatal diabetes mellitus and multisystem developmental anomalies, but the mechanisms underlying its phenotypic variability remain unclear. This study integrates amniotic fluid cfRNA transcriptome analysis and molecular diagnostics, identifying 372 differentially ...
Jiahui Yu   +6 more
wiley   +1 more source

Amniotic Membrane in Ophthalmology

open access: yesActa Scientific Microbiology, 2020
openaire   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

open access: yesPrenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam   +5 more
wiley   +1 more source

Minimal immune response after transplantation of a cryopreserved human amniotic membrane on the ocular surface. [PDF]

open access: yesMater Today Bio
Baudey JB   +11 more
europepmc   +1 more source

Refractory macular hole surgery with amniotic membrane transplant functional assessment. [PDF]

open access: yesInt J Retina Vitreous
Proença H   +5 more
europepmc   +1 more source

Exploring hemodynamic alterations in gastroschisis: insights into fetal growth restriction using prenatal MRI

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 795-805, June 2026.
Abstract Objective Despite the high incidence of fetal growth restriction (FGR) in gastroschisis (GS) associated with placental fetal vascular malperfusion (FVM), the underlying mechanism remains unclear. We aimed to investigate whether umbilical vein (UV) stenosis at the abdominal wall defect impairs fetoplacental circulation, leading to FGR.
H. Shi   +8 more
wiley   +1 more source

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