Literature DB >> 24569603

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.

Deborah Mackay1, Susanne Bens2, Guiomar Perez de Nanclares3, Reiner Siebert2, I Karen Temple4.   

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Year:  2014        PMID： 24569603      PMCID： PMC4135418          DOI： 10.1038/ejhg.2014.27

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  15 in total

1.  Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Authors:  Deborah J G Mackay; Jonathan L A Callaway; Sophie M Marks; Helen E White; Carlo L Acerini; Susanne E Boonen; Pinar Dayanikli; Helen V Firth; Judith A Goodship; Andreas P Haemers; Johanne M D Hahnemann; Olga Kordonouri; Ahmed F Masoud; Elsebet Oestergaard; John Storr; Sian Ellard; Andrew T Hattersley; David O Robinson; I Karen Temple
Journal:  Nat Genet       Date:  2008-07-11       Impact factor: 38.330

2.  Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

Authors:  Jose I Martin-Subero; Marina Bibikova; Deborah Mackay; Eliza Wickham-Garcia; Nadia Sellami; Julia Richter; Rene Santer; Almuth Caliebe; Jian-Bing Fan; I Karen Temple; Reiner Siebert
Journal:  Am J Med Genet A       Date:  2008-12-15       Impact factor: 2.802

3.  Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci.

Authors:  Matthias Begemann; Isabelle Leisten; Lukas Soellner; Klaus Zerres; Thomas Eggermann; Sabrina Spengler
Journal:  Epigenetics       Date:  2012-05-01       Impact factor: 4.528

4.  Diagnosis and treatment of neonatal diabetes: a United States experience.

Authors:  Julie Støy; Siri Atma W Greeley; Veronica P Paz; Honggang Ye; Ashley N Pastore; Kinga B Skowron; Rebecca B Lipton; Fran R Cogen; Graeme I Bell; Louis H Philipson
Journal:  Pediatr Diabetes       Date:  2008-07-25       Impact factor: 4.866

5.  Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Authors:  Barbara Wiedemann; Edith Schober; Thomas Waldhoer; Julia Koehle; Sarah E Flanagan; Deborah Jg Mackay; Elisabeth Steichen; Dagmar Meraner; Lothar-Bernd Zimmerhackl; Andrew T Hattersley; Sian Ellard; Sabine Hofer
Journal:  Pediatr Diabetes       Date:  2009-06-03       Impact factor: 4.866

6.  Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon.

Authors:  Giuliana Valerio; Adriana Franzese; Mariacarolina Salerno; Gianluca Muzzi; Gaetano Cecere; Karen I Temple; Julian P Shield
Journal:  Diabetes Care       Date:  2004-10       Impact factor: 19.112

7.  Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Authors:  Sarah E Flanagan; Ann-Marie Patch; Deborah J G Mackay; Emma L Edghill; Anna L Gloyn; David Robinson; Julian P H Shield; Karen Temple; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes       Date:  2007-04-19       Impact factor: 9.461

8.  Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

Authors:  Stéphanie Maupetit-Méhouas; Salah Azzi; Virginie Steunou; Nathalie Sakakini; Caroline Silve; Christelle Reynes; Guiomar Perez de Nanclares; Boris Keren; Sandra Chantot; Anne Barlier; Agnès Linglart; Irène Netchine
Journal:  Hum Mutat       Date:  2013-05-28       Impact factor: 4.878

9.  Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Authors:  L E Docherty; S Kabwama; A Lehmann; E Hawke; L Harrison; S E Flanagan; S Ellard; A T Hattersley; J P H Shield; S Ennis; D J G Mackay; I K Temple
Journal:  Diabetologia       Date:  2013-02-06       Impact factor: 10.122

Review 10.  Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Authors:  Michel Polak; Hélène Cavé
Journal:  Orphanet J Rare Dis       Date:  2007-03-09       Impact factor: 4.123
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  7 in total

1.  Genetic Counseling for Diabetes Mellitus.

Authors:  Stephanie A Stein; Kristin L Maloney; Toni I Pollin
Journal:  Curr Genet Med Rep       Date:  2014-06-01

2.  Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Authors:  Shinichiro Sano; Keiko Matsubara; Keisuke Nagasaki; Toru Kikuchi; Kazuhiko Nakabayashi; Kenichiro Hata; Maki Fukami; Masayo Kagami; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2016-04-28       Impact factor: 3.172

Review 3.  Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Authors:  Thomas Eggermann; Irène Netchine; I Karen Temple; Zeynep Tümer; David Monk; Deborah Mackay; Karin Grønskov; Andrea Riccio; Agnès Linglart; Eamonn R Maher
Journal:  Clin Epigenetics       Date:  2015-03-14       Impact factor: 6.551

4.  Chromosome 6q24-related diabetes mellitus.

Authors:  Tohru Yorifuji; Shinji Higuchi; Yuki Hosokawa; Rie Kawakita
Journal:  Clin Pediatr Endocrinol       Date:  2018-04-13

5.  Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.

Authors:  Susanne Bens; Manuel Luedeke; Tanja Richter; Melanie Graf; Julia Kolarova; Gotthold Barbi; Krisztian Lato; Thomas F Barth; Reiner Siebert
Journal:  Clin Epigenetics       Date:  2017-10-13       Impact factor: 6.551

6.  Genetic Spectrum of Neonatal Diabetes.

Authors:  M Kocova
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519

Review 7.  Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Authors:  Thomas Eggermann; Guiomar Perez de Nanclares; Eamonn R Maher; I Karen Temple; Zeynep Tümer; David Monk; Deborah J G Mackay; Karen Grønskov; Andrea Riccio; Agnès Linglart; Irène Netchine
Journal:  Clin Epigenetics       Date:  2015-11-14       Impact factor: 6.551
  7 in total

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