Literature DB >> 12244557

Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages.

Christiane Schiffer1, Gholamali Tariverdian, Monika Schiesser, Mary C Thomas, Consolato Sergi.   

Abstract

Three fetuses with agnathia-otocephaly complex representing different degrees of embryonic maldevelopment are reported. The study of the three cases and of the anterior embryonic disc supports the concept that an altered embryologic development might have taken place at Carnegie stages 10 (embryonic days 22 or 23) and 11 (embryonic days 23-26). Karyotypic abnormalities and aberrant gene expression of sonic hedgehog and paired-related homeobox genes are discussed as the cytogenetic and molecular basis of agnathia-otocephaly complex. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12244557     DOI： 10.1002/ajmg.10672

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

Review 1.  Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Authors:  Emily F Kauvar; Benjamin D Solomon; Cynthia J R Curry; Anthonie J van Essen; Nicole Janssen; Amalia Dutra; Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 2.  Emerging directions in the genetics of atrial fibrillation.

Authors:  Nathan R Tucker; Patrick T Ellinor
Journal:  Circ Res       Date:  2014-04-25       Impact factor: 17.367

3.  Role of Prx1-expressing skeletal cells and Prx1-expression in fracture repair.

Authors:  Alessandra Esposito; Lai Wang; Tieshi Li; Mariana Miranda; Anna Spagnoli
Journal:  Bone       Date:  2020-07-03       Impact factor: 4.398

4.  Role played by Prx1-dependent extracellular matrix properties in vascular smooth muscle development in embryonic lungs.

Authors:  Kaori Ihida-Stansbury; Juliana Ames; Mithil Chokshi; Norman Aiad; Sonali Sanyal; Kimihito C Kawabata; Ilya Levental; Harini G Sundararaghavan; Jason A Burdick; Paul Janmey; Kohei Miyazono; Rebecca G Wells; Peter L Jones
Journal:  Pulm Circ       Date:  2015-06       Impact factor: 3.017

Review 5.  Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Authors:  Anna Petryk; Daniel Graf; Ralph Marcucio
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2014-10-22       Impact factor: 5.814

6.  The expression of twisted gastrulation in postnatal mouse brain and functional implications.

Authors:  M Sun; C Forsman; C Sergi; R Gopalakrishnan; M B O'Connor; A Petryk
Journal:  Neuroscience       Date:  2010-05-20       Impact factor: 3.590

7.  Twisted gastrulation limits apoptosis in the distal region of the mandibular arch in mice.

Authors:  BreAnne MacKenzie; Ryan Wolff; Nick Lowe; Charles J Billington; Ashley Peterson; Brian Schmidt; Daniel Graf; Mina Mina; Rajaram Gopalakrishnan; Anna Petryk
Journal:  Dev Biol       Date:  2009-01-20       Impact factor: 3.582

Review 8.  Re-focusing on Agnathia-Otocephaly complex.

Authors:  C Dubucs; N Chassaing; C Sergi; M Aubert-Mucca; T Attié-Bitach; D Lacombe; C Thauvin-Robinet; S Arpin; M J Perez; C Cabrol; C P Chen; J Aziza; E Colin; J Martinovic; P Calvas; Julie Plaisancié
Journal:  Clin Oral Investig       Date:  2020-07-09       Impact factor: 3.573
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.