Literature DB >> 17850637

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.

S Saitoh, K Hosoki, K Takano, H Tonoki.   

Abstract

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Year:  2007        PMID： 17850637     DOI： 10.1111/j.1399-0004.2007.00860.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Authors:  David J Wu; Nicholas J Wang; Jennette Driscoll; Naghmeh Dorrani; Dahai Liu; Marian Sigman; N Carolyn Schanen
Journal:  Mol Cytogenet       Date:  2009-12-18       Impact factor: 2.009

Review 2.  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

3.  De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

Authors:  Elena Rossi; Roberto Giorda; Maria Clara Bonaglia; Stefania Di Candia; Elena Grechi; Adriana Franzese; Fiorenza Soli; Francesca Rivieri; Maria Grazia Patricelli; Donatella Saccilotto; Aldo Bonfante; Sabrina Giglio; Silvana Beri; Mariano Rocchi; Orsetta Zuffardi
Journal:  PLoS One       Date:  2012-06-14       Impact factor: 3.240

4.  Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Authors:  Jie Hu; Suneeta Madan-Khetarpal; Alvaro H Serrano Russi; Sally Kochmar; Stephanie J Deward; Malini Sathanoori; Urvashi Surti
Journal:  Genet Res Int       Date:  2011-07-17

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.  Uniparental disomy as a cause of pediatric endocrine disorders.

Authors:  Keiko Matsubara; Masayo Kagami; Maki Fukami
Journal:  Clin Pediatr Endocrinol       Date:  2018-07-31
  6 in total

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