Results 271 to 280 of about 37,180 (356)

Programming of the respiratory epithelium in utero - insight from the amniotic epithelial methylome

open access: yes
Agudelo-Romero P   +16 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

open access: yesClinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib   +12 more
wiley   +1 more source

Well-regulated Dermal Regeneration Using Amnion-containing Scaffold in a Preclinical Study. [PDF]

open access: yesAdv Pharm Bull
Staji M   +5 more
europepmc   +1 more source

Internal closure of a posterior perforation using amniotic membrane: A novel surgical technique

open access: yes
Acta Ophthalmologica, EarlyView.
J. S. Suwandi   +7 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

open access: yesClinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç   +8 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova   +6 more
wiley   +1 more source

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