Literature DB >> 2683788

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.

M M Cohen1.   

Abstract

This paper attempts to balance our knowledge of holoprosencephalic spectra and continuities with important distinctions and discontinuities. Prevalence studies and syndrome delineation are briefly reviewed. The following topics receive detailed coverage: human teratogens, special aspects of forebrain and hindbrain malformations, aprosencephaly/atelencephaly, association with neural tube defects, current assessment of "facial principles," and endocrine abnormalities.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2683788     DOI： 10.1002/ajmg.1320340232

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


  23 in total

Review 1.  Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Authors:  Sophia M Bous; Benjamin D Solomon; Luitgard Graul-Neumann; Heidemarie Neitzel; Emily E Hardisty; Maximilian Muenke
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816

Review 2.  Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors:  Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-17       Impact factor: 3.908

3.  Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother.

Authors:  Dibyajyoti Goswami; Giriraj Kusre
Journal:  J Clin Diagn Res       Date:  2015-05-01

4.  Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Authors:  H S Heussler; M Suri; I D Young; M Muenke
Journal:  Arch Dis Child       Date:  2002-04       Impact factor: 3.791

Review 5.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 6.  Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors:  E Roessler; M Muenke
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

7.  Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

Authors:  M J Seller; L S Chitty; H Dunbar
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

8.  Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Authors:  M Warburg; M Bugge; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

Review 9.  Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Authors:  Ariel F Martinez; Paul S Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-15       Impact factor: 3.908

10.  Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Authors:  M Muenke; F Gurrieri; C Bay; D H Yi; A L Collins; V P Johnson; R C Hennekam; G B Schaefer; L Weik; M S Lubinsky
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-16       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.