Literature DB >> 1227533

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.

E Roach, W Demyer, P M Conneally, C Palmer, A D Merritt.   

Abstract

Thirty families were studied to determine genetic and evnironmental factors involved in holoprosencephaly. Those with chromosomal abnormalities were excluded. Many factors appear to cluster in proband families, such as mental retardation, mental illness, endocrine disorders, increased twinning and poverty level socioeconomic status. The empiric recurrence risk was 6%. Among 7 with lobar holoprosencephaly, there were 3 females and 4 males, while there were 19 females and 6 males with alobar holoprosencephaly.

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Mesh:

Year:  1975        PMID: 1227533

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  30 in total

1.  Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.

Authors:  C P Chen; S L Shih; F F Liu; S W Jan
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

Review 2.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

Review 3.  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

4.  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

5.  Genetic analysis of malformations causing perinatal mortality.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1986-02       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.  Holoprosencephaly in the west of Scotland 1975-1994.

Authors:  M L Whiteford; J L Tolmie
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

8.  Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Authors:  Lucilene A Ribeiro; Erich Roessler; Ping Hu; Daniel E Pineda-Alvarez; Nan Zhou; Marypat Jones; Settara Chandrasekharappa; Antonio Richieri-Costa; Maximilian Muenke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2012-07-27

9.  Holoprosencephaly and related entities.

Authors:  C R Fitz
Journal:  Neuroradiology       Date:  1983       Impact factor: 2.804

10.  Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst.

Authors:  T S Kim; S Cho; D W Dickson
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

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