Results 11 to 20 of about 10,496 (209)
Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. [PDF]
Mol Genet Genomic MedWe report prenatal diagnosis of MCPH2 via trio‐WES, identifying novel compound heterozygous WDR62 variants. To our knowledge, prenatal MRI detection of lobar HPE and lissencephaly with the agyria–pachygyria complex has not been reported in fetuses with WDR62 variants. Consequently, these findings have advanced our understanding of prenatally detectable
Li YF, Zhang SH, Zhen L, Zhang LZ.
europepmc +2 more sources
Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes. [PDF]
, 2020 This review focuses on the role of the Cytochrome p450 subfamily 26 (CYP26) retinoic acid (RA) degrading enzymes during development and regeneration. Cyp26 enzymes, along with retinoic acid synthesising enzymes, are absolutely required for RA homeostasis
Roberts, C
core +4 more sources
Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports
Global Pediatric Health, 2023 Holoprosencephaly (HPE) is a rare birth defect that occurs during the first few weeks of pregnancy. It results from a disturbance in the usual signaling pathways required for separation of the embryonic prosencephalon into 2 separate cerebral hemispheres.
Benmoussa Meryem +5 more
doaj +1 more source
Ethanol itself is a holoprosencephaly-inducing teratogen. [PDF]
PLoS ONE, 2017 Ethanol is a teratogen, inducing a variety of structural defects in developing humans and animals that are exposed in utero. Mechanisms of ethanol teratogenicity in specific defects are not well understood.
Mingi Hong, Robert S Krauss
doaj +1 more source
Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2020 Holoprosencephaly is a birth defect that leads to an abnormal brain development where the brain fails to divide into two hemispheres. Possible causes are environmental or genetic factors. Holoprosencephaly can include craniofacial abnormalities in most of the cases.
Al-Khawaja, Fatima +4 more
openaire +3 more sources
Holoprosencephaly in Patau Syndrome [PDF]
Revista Paulista de Pediatria, 2023 Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
Amanda de Souza Schlosser +6 more
doaj +1 more source
Interdisciplinary Neurosurgery, 2022 Holoprosencephaly, though rare remains the most common forebrain abnormality in humans. This is a report of a patient with multiple craniofacial congenital abnormalities comprising of alobar holoprosencephaly, schicencephaly, encephalocoele and cleft ...
O.H. Obanife +8 more
doaj +1 more source
A novel six3 mutation segregates with holoprosencephaly in a large family [PDF]
, 2009 Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components.
Abecasis +40 more
core +1 more source
Journal of the Formosan Medical Association, 2008 Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p.
Chih-Ping Chen +5 more
doaj +1 more source
Sonic Hedgehog Is a Member of the Hh/DD-Peptidase Family That Spans the Eukaryotic and Bacterial Domains of Life. [PDF]
, 2018 Sonic Hedgehog (Shh) coordinates Zn2+ in a manner that resembles that of peptidases. The ability of Shh to undergo autoproteolytic processing is impaired in mutants that affect the Zn2+ coordination, while mutating residues essential for catalytic ...
Roelink, Henk
core +3 more sources