Literature DB >> 2683787

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly.

M Münke1.   

Abstract

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Year:  1989        PMID： 2683787     DOI： 10.1002/ajmg.1320340222

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


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  14 in total

1.  2011 William Allan Award introduction: John M. Opitz.

Authors:  Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

2.  Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

Authors:  Isabel M Carreira; Alexandra Mascarenhas; Eunice Matoso; Ana B Couceiro; Lina Ramos; Andreas Dufke; Marie Mazauric; Rüdiger Stressig; Nadezda Kosyakova; Joana B Melo; Thomas Liehr
Journal:  J Histochem Cytochem       Date:  2007-06-26       Impact factor: 2.479

Review 3.  Syndromes associated with simple calvarial and complex craniofacial anomalies.

Authors:  P Iannetti; L Chessa; G Iannetti
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

5.  TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Authors:  A A Keaton; B D Solomon; E F Kauvar; K B El-Jaick; A L Gropman; Y Zafer; J M Meck; S J Bale; D K Grange; B R Haddad; G C Gowans; N J Clegg; M R Delgado; J S Hahn; D E Pineda-Alvarez; F Lacbawan; J I Vélez; E Roessler; M Muenke
Journal:  Mol Syndromol       Date:  2011-05-18

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.  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

Review 9.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

10.  Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.

Authors:  N Dahmane; G Charron; C Lopes; M L Yaspo; C Maunoury; L Decorte; P M Sinet; B Bloch; J M Delabar
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-26       Impact factor: 11.205
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