Literature DB >> 11288713

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities.

N D Sumption, J C Barber.   

Abstract

Mesh：

Year:  2001        PMID： 11288713      PMCID： PMC1734806          DOI： 10.1136/jmg.38.2.125

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


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  6 in total

1.  De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Authors:  I Papoulidis; A Vetro; K Kefalas; S Orru; L Thomaidis; Z Iliodromiti; O Zuffardi; E Manolakos
Journal:  Mol Syndromol       Date:  2013-06-12

Review 2.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

3.  Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Authors:  Martin Poot; Marc J Eleveld; Ruben van 't Slot; Hans Kristian Ploos van Amstel; Ron Hochstenbach
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

4.  Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Authors:  Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

5.  Signature of backward replication slippage at the copy number variation junction.

Authors:  Tamae Ohye; Hidehito Inagaki; Mamoru Ozaki; Toshiro Ikeda; Hiroki Kurahashi
Journal:  J Hum Genet       Date:  2014-03-20       Impact factor: 3.172

6.  A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.

Authors:  Deqiong Ma; Robert Marion; Netra Prasad Punjabi; Elaine Pereira; Joy Samanich; Chhavi Agarwal; Jianli Li; Chih-Kang Huang; K H Ramesh; Linda A Cannizzaro; Rizwan Naeem
Journal:  Mol Cytogenet       Date:  2014-11-26       Impact factor: 2.009
  6 in total

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