Literature DB >> 17337496

Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.

Beate Karges1, Carsten Bergmann, Katrina Scholl, Eberhard Heinze, Franz Maximilian Rasche, Klaus Zerres, Klaus-Michael Debatin, Martin Wabitsch, Wolfram Karges.   

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Year:  2007        PMID： 17337496     DOI： 10.2337/dc06-2618

Source DB:  PubMed          Journal:  Diabetes Care        ISSN： 0149-5992            Impact factor:   19.112


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  4 in total

Review 1.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

2.  Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

Authors:  Inés Urrutia; Rosa Martínez; Itxaso Rica; Idoia Martínez de LaPiscina; Alejandro García-Castaño; Anibal Aguayo; Begoña Calvo; Luis Castaño
Journal:  PLoS One       Date:  2019-07-31       Impact factor: 3.240

3.  The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Authors:  Dinara E Ivanoshchuk; Elena V Shakhtshneider; Oksana D Rymar; Alla K Ovsyannikova; Svetlana V Mikhailova; Veniamin S Fishman; Emil S Valeev; Pavel S Orlov; Mikhail I Voevoda
Journal:  J Pers Med       Date:  2021-01-18

4.  NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report.

Authors:  Fernanda Iafusco; Giovanna Maione; Cristina Mazzaccara; Francesca Di Candia; Enza Mozzillo; Adriana Franzese; Nadia Tinto
Journal:  Diagnostics (Basel)       Date:  2021-06-25
  4 in total

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