Results 31 to 40 of about 10,496 (209)

Cyclopia with shoulder dystocia leading to an obstetric catastrophe: a case report [PDF]

, 2010
Introduction Cyclopia is a rare fetal malformation characterized by a single palpebral fissure and a proboscis associated with severe brain malformations. Approximately 1.05 in 100,000 births including stillbirths are identified as cyclopean.
Mahesh C Koregol, Mrutyunjaya B Bellad, Baburao R Nilgar, Mrityunjay C Metgud, Geeta Durdi, N Arathi, U Moog, C Cannistra, F Yilmaz, YY Lee, I Sezgin, CP Chen, TY Hsu, HG Blaas   +13 more
core   +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

Multiple roles of Sonic Hedgehog in the developing human cortex are suggested by its widespread distribution [PDF]

, 2018
Sonic Hedgehog (Shh) plays an instrumental role in brain development, fine-tuning processes such as cell proliferation, patterning, and fate specification.
Memi, F, Radonjić, N, Zecevic, N
core   +2 more sources

A case of holoprosencephaly and a little review

Human Pathology: Case Reports, 2019
Holoprosencephaly (HPE) is a birth defect that occurs during the first weeks of pregnancy and as a result the prosencephalon does not clearly divide in diencephalon, two halves of the telencephalon and lateral ventricles in the brain of the fetus and, in
Agustín Castañeyra-Perdomo, Ibrahim González-Marrero, Juan M. González-Toledo, Luis G. Hernández-Abad, Leandro Castañeyra-Ruiz, Emilio Gonzalez-Arnay, Emilia M. Carmona-Calero   +6 more
doaj   +1 more source

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly

Biology Open, 2012
Summary Holoprosencephaly is the most common forebrain defect in humans. We describe two novel mouse mutants that display a holoprosencephaly-like phenotype.
David M. McKean, Lee Niswander
doaj   +1 more source

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype. [PDF]

Genesis
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Liu Y, Wang H, Chen L, Wu X, Xu Z, Huang Q, Zhang H, Cao X, Liang X, Zhong X, Luo C.   +10 more
europepmc   +2 more sources

Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function

Biology Open, 2014
Holoprosencephaly is a heterogeneous developmental malformation of the central nervous system characterized by impaired forebrain cleavage, midline facial anomalies and wide phenotypic variation.
Maisa Seppala, Guilherme M. Xavier, Chen-Ming Fan, Martyn T. Cobourne   +3 more
doaj   +1 more source

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [PDF]

, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Inusha Panigrahi, Ram Kumar Marwaha, Sheetal Sharda   +2 more
core   +1 more source

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice [PDF]

, 2018
Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is ...
A Kamalakar, A Trinh, AJ Copp, AJ Copp, AS Findlay, B Wang, BA Alman, C Cooper, C Hartmann, CF Davey, CH Chen, D Karasik, D Szklarczyk, DG Winkler, DJ Epstein, DM Juriloff, E Canalis, E Nikolopoulou, EM Curtis, GH Li, GL Galea, GL Galea, GL Galea, GL Galea, H Marreiros, H Yin, HF Zheng, IR Orriss, IR Orriss, JK Morris, JN Murdoch, K Estrada, KC Keller, KS Joeng, L D’Andrea, LJ Martin, LL Yates, LL Yates, M Akbar, M Kalogeropoulos, ME Ross, MJ Anderson, MJ Harris, MJ Harris, MR Dohn, NC Nowlan, P Andre, P Elms, P Ybot-Gonzalez, P Ybot-Gonzalez, R Klootwijk, R Xu, S Babayeva, S Li, S Maere, SA Brown, SE Taylor, SJ Conway, T Dodge, T Yang, UM Ayturk, V Martinelli, W Yang, Y Erdem, Y Koyabu, Y Lei, Z Kibar   +66 more
core   +3 more sources

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source