Literature DB >> 8558571

Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.

M Ireland, C English, I Cross, S Lindsay, T Strachan.   

Abstract

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Year:  1995        PMID： 8558571      PMCID： PMC1051721          DOI： 10.1136/jmg.32.10.837

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  1 in total

1.  Partial trisomy 3q causing mild Cornelia de Lange phenotype.

Authors:  S E Holder; L M Grimsley; R W Palmer; L J Butler; M Baraitser
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318
  1 in total
  6 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Authors:  I D Krantz; E Tonkin; M Smith; M Devoto; A Bottani; C Simpson; M Hofreiter; V Abraham; L Jukofsky; B P Conti; T Strachan; L Jackson
Journal:  Am J Med Genet       Date:  2001-06-15

3.  A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.

Authors:  Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Fabíola Paoli Monteiro; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2018-06-08

Review 4.  Cohesin and human disease.

Authors:  Jinglan Liu; Ian D Krantz
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

5.  Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Authors:  Isabel M Carreira; Joana B Melo; Carlos Rodrigues; Liesbeth Backx; Joris Vermeesch; Anja Weise; Nadezda Kosyakova; Guiomar Oliveira; Eunice Matoso
Journal:  Mol Cytogenet       Date:  2009-08-04       Impact factor: 2.009

6.  A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Authors:  Emma T Tonkin; Melanie Smith; Piet Eichhorn; Sandie Jones; Burhan Imamwerdi; Susan Lindsay; Mike Jackson; Tzu-Jou Wang; Maggie Ireland; John Burn; Ian D Krantz; Philippa Carr; Tom Strachan
Journal:  Hum Genet       Date:  2004-05-27       Impact factor: 4.132
  6 in total

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