Literature DB >> 12624157

Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report.

A Nietzel, B Albrecht, H Starke, A Heller, G Gillessen-Kaesbach, U Claussen, T Liehr.   

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Year:  2003        PMID： 12624157      PMCID： PMC1735381          DOI： 10.1136/jmg.40.3.e28

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


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  7 in total

1.  High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

Authors:  Nicholas J Wang; Dahai Liu; Alexander S Parokonny; N Carolyn Schanen
Journal:  Am J Hum Genet       Date:  2004-06-11       Impact factor: 11.025

2.  Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Authors:  S M Mann; N J Wang; D H Liu; L Wang; R A Schultz; N Dorrani; M Sigman; N C Schanen
Journal:  Hum Genet       Date:  2004-05-13       Impact factor: 4.132

3.  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

Review 4.  The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Authors:  Amber Hogart; David Wu; Janine M LaSalle; N Carolyn Schanen
Journal:  Neurobiol Dis       Date:  2008-09-18       Impact factor: 5.996

Review 5.  The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Authors:  Agatino Battaglia
Journal:  Orphanet J Rare Dis       Date:  2008-11-19       Impact factor: 4.123

6.  Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them.

Authors:  Thomas Liehr; Kristin Mrasek; Nadezda Kosyakova; Caroline Mackie Ogilvie; Joris Vermeesch; Vladimir Trifonov; Nikolai Rubtsov
Journal:  Mol Cytogenet       Date:  2008-06-04       Impact factor: 2.009

7.  Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Authors:  Haiyu Li; Juan Du; Wen Li; Dehua Cheng; Wenbin He; Duo Yi; Bo Xiong; Shimin Yuan; Chaofeng Tu; Lanlan Meng; Aixiang Luo; Ge Lin; Guangxiu Lu; Yue-Qiu Tan
Journal:  Mol Cytogenet       Date:  2018-02-05       Impact factor: 2.009
  7 in total

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