Literature DB >> 18553547

Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?

John C K Barber.   

Abstract

Mesh：

Year:  2008        PMID： 18553547     DOI： 10.1002/ajmg.a.32387

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

Review 1.  The origin and evolution of vertebrate sex chromosomes and dosage compensation.

Authors:  A M Livernois; J A M Graves; P D Waters
Journal:  Heredity (Edinb)       Date:  2011-11-16       Impact factor: 3.821

2.  Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Authors:  Cristina Cuoco; Patrizia Ronchetto; Stefania Gimelli; Frédérique Béna; Maria Teresa Divizia; Margherita Lerone; Marisol Mirabelli-Badenier; Monica Mascaretti; Giorgio Gimelli
Journal:  Orphanet J Rare Dis       Date:  2011-04-01       Impact factor: 4.123

3.  Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Authors:  Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Journal:  Prenat Diagn       Date:  2009-01       Impact factor: 3.050

4.  Familiar del3p syndrome: The uncertainty of the prognosis. A case report.

Authors:  Márcia Martins; Regina Arantes; Pedro Botelho; Marta Souto; Osvaldo Moutinho; Rosário Pinto Leite
Journal:  Clin Case Rep       Date:  2021-03-09
  4 in total

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