Results 41 to 50 of about 11,012 (235)

Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly

bioRxiv, 2020
Holoprosencephaly (HPE), a defect in midline patterning of the forebrain and midface, arises ~1 in 250 conceptions. It is associated with predisposing mutations in the Nodal and Hedgehog (HH) pathways, with penetrance and expressivity graded by genetic ...
Mingi Hong, Annabel Christ, A. Christa, T. Willnow, R. S. Krauss   +4 more
semanticscholar   +1 more source

Frequency of holoprosencephaly in Chile [PDF]

, 2015
Artículo de publicación ISIBackground: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity.
Cifuentes Ovalle, Lucía, Cortez López, Andrea, Nazer Herrera, Julio   +2 more
core   +1 more source

Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report

Journal of Medical Case Reports, 2018
Background The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors.
Ahmed Amdihun Essa, Lakachew Asrade Feleke, Dawed Muhammed Ahmed   +2 more
doaj   +1 more source

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.

Brain : a journal of neurology, 2020
Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and protein translation remains
Artem Kim, Jérôme Le Douce, Farah Diab, Monika Ferovova, C. Dubourg, S. Odent, V. Dupé, V. David, Luis Diambra, E. Watrin, M. de Tayrac   +10 more
semanticscholar   +1 more source

Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa   +3 more
doaj   +1 more source

Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence [PDF]

Journal of Clinical and Diagnostic Research, 2016
Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees.
Tejaswini Priyadarshan Waghmare, Pragati Aditya Sathe, Naina Atul Goel, Bhuvaneshwari Mahendra Kandalkar   +3 more
doaj   +1 more source

MRI imaging of prenatal-postatal brain malformations

Radiology Case Reports, 2021
A fetus with suspicion for holoprosencephaly and various brain malformations were seen on ultrasound and send for magnetic resonance imaging (MRI).
Sandra Vegar-Zubović, MD, PhD, Merim Jusufbegović, RT, MSci, Deniz Bulja, MD, MSci, Amila Sidran, MD, Muris Bečirčić, MD, Adi Behmen, MD, MA   +5 more
doaj   +1 more source

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

American Journal of Human Genetics, 2019
In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss ...
J. Hughes, Ebba Alkhunaizi, P. Kruszka, Louise C. Pyle, D. Grange, Seth I. Berger, K. Payne, D. Masser-Frye, Tommy Hu, Michelle R. Christie, N. Clegg, Joshua L. Everson, Ariel F. Martinez, L. Walsh, E. Bedoukian, Marilyn C. Jones, C. Harris, K. Riedhammer, D. Choukair, P. Fechner, M. Rutter, Sophia B. Hufnagel, Maian Roifman, G. Kletter, Emmanuèle C. Délot, E. Vilain, R. Lipinski, C. Vezina, M. Muenke, D. Chitayat   +29 more
semanticscholar   +1 more source

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

American Journal of Human Genetics, 2019
We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice.
E. De Franco, R. Watson, W. Weninger, C. Wong, S. Flanagan, R. Caswell, A. Green, Catherine Tudor, C. Lelliott, S. Geyer, Barbara Maurer-Gesek, L. Reissig, Hana Lango Allen, A. Caliebe, R. Siebert, P. Holterhus, A. Deeb, F. Prin, R. Hilbrands, H. Heimberg, S. Ellard, A. Hattersley, I. Barroso   +22 more
semanticscholar   +1 more source

Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects [PDF]

, 2017
How to Cite This Article: Rai B, Sharif F. Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. Iran J Child Neurol. Summer 2017; 11(3):61-65. AbstractHoloprosencephaly is the most common embryonic brain defect.
RAI, Birendra, SHARIF, Farhana
core   +1 more source