Literature DB >> 8485580

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

F Gurrieri1, B J Trask, G van den Engh, C M Krauss, A Schinzel, M J Pettenati, D Schindler, J Dietz-Band, G Vergnaud, S W Scherer.   

Abstract

Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.

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Year:  1993        PMID： 8485580     DOI： 10.1038/ng0393-247

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  16 in total

1.  Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

Authors:  N M Savage; N A Maclachlan; C A Joyce; I E Moore; J A Crolla
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

3.  Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition.

Authors:  H Varley; S Di; S W Scherer; N J Royle
Journal:  Am J Hum Genet       Date:  2000-08-01       Impact factor: 11.025

Review 4.  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

5.  Physical mapping of the human T-cell receptor beta gene complex, using yeast artificial chromosomes.

Authors:  Y Hashim; I Ragoussis; L Kearney; S Tosi; A K So
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

6.  Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Authors:  Silvana Beri; Maria Clara Bonaglia; Roberto Giorda
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246

7.  Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Authors:  J E Pellegrino; R E Schnur; R Kline; E H Zackai; N B Spinner
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

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

9.  MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Authors:  P A Caruso; T Y Poussaint; A A Tzika; D Zurakowski; L G Astrakas; E R Elias; C Bay; M B Irons
Journal:  Neuroradiology       Date:  2003-11-05       Impact factor: 2.804

10.  Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

Authors:  F A Eggerding; S A Schonberg; F F Chehab; M E Norton; V A Cox; C J Epstein
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025
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