Results 61 to 70 of about 11,012 (235)

Semilobarholoprosencephaly – A Dreading Congenital Anomaly [PDF]

Journal of Clinical and Diagnostic Research, 2017
Holoprosencephaly (HPE) is a group of structural abnormalities of brain that is an important cause of childhood mortality and morbidity. They usually occur due to impaired midline cleavage of embryonic forebrain i.e., failure of differentiation of the ...
Bhushita B Lakhkar, Bhushan N Lakhkar, Bhavana B Lakhkar   +2 more
doaj   +1 more source

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Brain : a journal of neurology, 2018
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels.
Artem Kim, Clara Savary, C. Dubourg, W. Carré, C. Mouden, Houda Hamdi-Rozé, H. Guyodo, Jérôme Le Douce, E. Genin, Dominique Campion, J. Dartigues, J. Deleuze, Jean-Charles Lambert, R. Redon, Thomas E. Ludwig, B. Grenier‐Boley, S. Letort, P. Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, C. Bellenguez, Camille Charbonnier-Le Clézio, Joanna Giemza, S. Chatel, Claude Férec, H. Le Marec, L. Letenneur, G. Nicolas, Karen Rouault, D. Bacq, A. Boland, Doris Lechner, C. Wijmenga, M. Swertz, P. Slagboom, G. V. van Ommen, C. V. van Duijn, D. Boomsma, P. D. de Bakker, Jasper A. Bovenberg, A. D. de Craen, M. Beekman, A. Hofman, G. Willemsen, B. Wolffenbuttel, Mathieu Platteel, Yuanping Du, Ruo-Yan Chen, Hong-Zhi Cao, Rui Cao, Yu-Sheng Sun, Jeremy Sujie Cao, F. van Dijk, Pieter B. T. Neerincx, Patrick Deelen, M. Dijkstra, George Byelas, Alexandros Kanterakis, J. Bot, Kai Ye, Eric-Wubbo Lameijer, Martijn Vermaat, Jeroen F. J. Laros, J. D. den Dunnen, P. de Knijff, L. Karssen, E. V. van Leeuwen, N. Amin, V. Koval, F. Rivadeneira, K. Estrada, J. Hehir-Kwa, J. de Ligt, A. Abdellaoui, J. Hottenga, V. Mathijs Kattenberg, D. van Enckevort, Hai-Liang Mei, Mark Santcroos, B. V. van Schaik, R. Handsaker, Steven A. McCarroll, E. Eichler, Arthur Ko, Peter H. Sudmant, Laurent C. Francioli, W. Kloosterman, I. Nijman, V. Guryev, L. Pasquier, E. Flori, M. Gonzalès, C. Bénéteau, O. Boute, T. Attié-Bitach, J. Roume, Louise Goujon, Linda Akloul, S. Odent, E. Watrin, V. Dupé, M. de Tayrac, V. David   +103 more
semanticscholar   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Seckel Syndrome with Holoprosencephaly

, 2012
A case of Seckel syndrome (SS) accompanied by semilobar holoprosencephaly and arthrogryposis is reported from Erciyes University, Kayseri ...
J Gordon Millichap
core   +1 more source

Differential sensitivity to SHH signaling and neural crest‐mediated Gas1 expression regulate jaw size during development and evolution

Developmental Dynamics, EarlyView.
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová, Daniel B. Chu, An Nguyen, Yeniko Ta, Jennifer L. Fish, Richard A. Schneider   +5 more
wiley   +1 more source

Holoprosencephaly-diencephalic hamartoblastoma (HDH)

, 2008
Review on Holoprosencephaly-diencephalic hamartoblastoma (HDH), with data on clinics, and the genes ...
Castori, M, Grammatico, P
core   +1 more source

Antenatal diagnosis of alobar holoprosencephaly [PDF]

, 2020
Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon.
Khanna, Dolly, Bhatti, Karandeep S.
core   +1 more source

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
doaj   +1 more source

Holoprosencephaly: A Case Report and Review of Prenatal Sonographic Findings [PDF]

International Journal of Fertility and Sterility, 2008
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar.
Maryam Niknejadi, Firoozeh Ahmadi, Shohreh Irani   +2 more
doaj   +1 more source