Results 41 to 50 of about 10,496 (209)

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

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

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
core   +2 more sources

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +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

Preferential associated anomalies in 818 cases of microtia in South america [PDF]

, 2013
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique, Cox, Thimoty C., Cunningham, Michael L., Dutra, Maria da Graça, Luquetti, Daniela V., López Camelo, Jorge Santiago   +5 more
core   +3 more sources

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Iniencephaly and Holoprosencephaly: Report of a Rare Association

Case Reports in Obstetrics and Gynecology, 2014
The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks.
Aytekin Tokmak, Hakan Timur, Korkut Dağlar, Özgür Kara   +3 more
doaj   +1 more source

Teratogenic effects of gabapentin on the skeletal system of Balb/C mice fetuses [PDF]

, 2009
Objectives: To evaluate the effects of gabapentin )GBP( administration on mice fetuses. Methods: This study was carried out in Birjand University of Medical Sciences during 2008.
Afshar, M., Golalipour, M.J., Hassanzadeh-Taheri, M.M., Moallem, S.-A., Tamizi, A.   +4 more
core  

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source