Literature DB >> 8940280

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

J A Terrett1, R Newbury-Ecob, N M Smith, Q Y Li, C Garrett, P Cox, D Bonnet, S Lyonnet, A Munnich, A J Buckler, J D Brook.   

Abstract

A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.

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Year:  1996        PMID： 8940280      PMCID： PMC1914871     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  13 in total

1.  Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library.

Authors:  M S Driesen; J G Dauwerse; M C Wapenaar; E J Meershoek; P Mollevanger; K L Chen; K H Fischbeck; G J van Ommen
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

2.  The Holt-Oram syndrome.

Authors:  J A Hurst; C M Hall; M Baraitser
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  A rapid alkaline extraction procedure for screening recombinant plasmid DNA.

Authors:  H C Birnboim; J Doly
Journal:  Nucleic Acids Res       Date:  1979-11-24       Impact factor: 16.971

4.  Craniofacial syndromes: no such thing as a single gene disease.

Authors:  J J Mulvihill
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

5.  Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Authors:  C R Jamieson; I van der Burgt; A F Brady; M van Reen; M M Elsawi; F Hol; S Jeffery; M A Patton; E Mariman
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

6.  A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli.

Authors:  C S Hoffman; F Winston
Journal:  Gene       Date:  1987       Impact factor: 3.688

7.  Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Authors:  J W Foster; M A Dominguez-Steglich; S Guioli; C Kwok; P A Weller; M Stevanović; J Weissenbach; S Mansour; I D Young; P N Goodfellow
Journal:  Nature       Date:  1994-12-08       Impact factor: 49.962

8.  A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Authors:  D Bonnet; A Pelet; L Legeai-Mallet; D Sidi; M Mathieu; P Parent; H Plauchu; F Serville; A Schinzel; J Weissenbach
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

9.  A second-generation YAC contig map of human chromosome 12.

Authors:  K Krauter; K Montgomery; S J Yoon; J LeBlanc-Straceski; B Renault; I Marondel; V Herdman; L Cupelli; A Banks; J Lieman
Journal:  Nature       Date:  1995-09-28       Impact factor: 49.962

10.  Genetic heterogeneity of heart-hand syndromes.

Authors:  C T Basson; S D Solomon; B Weissman; C A MacRae; A K Poznanski; F Prieto; S Ruiz de la Fuente; W E Pease; S E Levin; L B Holmes
Journal:  Circulation       Date:  1995-03-01       Impact factor: 29.690
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  2 in total

Review 1.  Molecular genetics of congenital atrial septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Felix Berger; Cemil Ozcelik
Journal:  Clin Res Cardiol       Date:  2009-12-11       Impact factor: 5.460

2.  A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Authors:  Martina Dreßen; Harald Lahm; Armin Lahm; Klaudia Wolf; Stefanie Doppler; Marcus-André Deutsch; Julie Cleuziou; Jelena Pabst von Ohain; Patric Schön; Peter Ewert; Ivan Malcic; Rüdiger Lange; Markus Krane
Journal:  Mol Genet Genomic Med       Date:  2016-07-14       Impact factor: 2.183
  2 in total

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