Literature DB >> 9894800

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus.

R J Gardner1, D O Robinson, L Lamont, J P Shield, I K Temple.   

Abstract

Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus for uniparental disomy of chromosome 6 using polymorphic microsatellite repeat analysis. We report here the fifth case of paternal uniparental disomy of chromosome 6 associated with classic transient neonatal diabetes mellitus and estimate that uniparental disomy of chromosome 6 accounts for approximately one fifth of cases of transient neonatal diabetes mellitus.

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Year:  1998        PMID： 9894800     DOI： 10.1111/j.1399-0004.1998.tb03774.x

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


  8 in total

Review 1.  New insights into the genetics of neonatal diabetes.

Authors:  Constantin Polychronakos
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

Review 2.  Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Authors:  Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

3.  Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.

Authors:  G Piras; A El Kharroubi; S Kozlov; D Escalante-Alcalde; L Hernandez; N G Copeland; D J Gilbert; N A Jenkins; C L Stewart
Journal:  Mol Cell Biol       Date:  2000-05       Impact factor: 4.272

4.  Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Authors:  S Das; C M Lese; M Song; J L Jensen; L A Wells; B L Barnoski; J A Roseberry; J M Camacho; D H Ledbetter; R E Schnur
Journal:  Am J Hum Genet       Date:  2000-10-18       Impact factor: 11.025

5.  Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

Authors:  L E Docherty; R L Poole; C J Mattocks; A Lehmann; I K Temple; D J G Mackay
Journal:  Diabetologia       Date:  2010-07-30       Impact factor: 10.122

Review 6.  Neonatal diabetes mellitus.

Authors:  Lydia Aguilar-Bryan; Joseph Bryan
Journal:  Endocr Rev       Date:  2008-04-24       Impact factor: 19.871

7.  American College of Medical Genetics statement of diagnostic testing for uniparental disomy.

Authors:  L G Shaffer; N Agan; J D Goldberg; D H Ledbetter; J W Longshore; S B Cassidy
Journal:  Genet Med       Date:  2001 May-Jun       Impact factor: 8.822

Review 8.  Wolcott-Rallison syndrome in a Bedouin boy.

Authors:  Makia J Marafie; Mary A Redha; Rezk L Al-Naggar
Journal:  Ann Saudi Med       Date:  2004 Nov-Dec       Impact factor: 1.526
  8 in total

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