Results 31 to 40 of about 5,787 (168)

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

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

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

Holoprosencephaly

Newborn
Citation: 'holoprosencephaly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10803 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Elisa Montaguti, Gianluigi Pilu
  +6 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

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

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

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

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