Literature DB >> 24518839

Clinical utility gene card for: Maturity-onset diabetes of the young.

Kevin Colclough1, Cécile Saint-Martin2, José Timsit3, Sian Ellard4, Christine Bellanné-Chantelot2.   

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Year:  2014        PMID： 24518839      PMCID： PMC4135417          DOI： 10.1038/ejhg.2014.14

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


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  40 in total

1.  Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.

Authors:  Christine Bellanné-Chantelot; David Joseph Lévy; Claire Carette; Cécile Saint-Martin; Jean-Pierre Riveline; Etienne Larger; René Valéro; Jean-François Gautier; Yves Reznik; Agnès Sola; Agnès Hartemann; Sandrine Laboureau-Soares; Marie Laloi-Michelin; Pierre Lecomte; Lucy Chaillous; Danièle Dubois-Laforgue; José Timsit
Journal:  J Clin Endocrinol Metab       Date:  2011-06-15       Impact factor: 5.958

2.  Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.

Authors:  A M Steele; B M Shields; M Shepherd; S Ellard; A T Hattersley; E R Pearson
Journal:  Diabet Med       Date:  2010-02       Impact factor: 4.359

3.  Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.

Authors:  C Carette; D Dubois-Laforgue; C Saint-Martin; S Clauin; S Beaufils; E Larger; A Sola; H Mosnier-Pudar; J Timsit; C Bellanné-Chantelot
Journal:  Diabet Med       Date:  2010-12       Impact factor: 4.359

4.  The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

Authors:  A M Steele; N D Tribble; R Caswell; K J Wensley; A T Hattersley; A L Gloyn; S Ellard
Journal:  Diabetologia       Date:  2011-05-21       Impact factor: 10.122

5.  Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.

Authors:  Katharine R Owen; Gaya Thanabalasingham; Timothy J James; Fredrik Karpe; Andrew J Farmer; Mark I McCarthy; Anna L Gloyn
Journal:  Diabetes Care       Date:  2010-08-19       Impact factor: 17.152

6.  Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: a population-based assessment of the prevalence of type 2 diabetes and MODY in patients aged 0-20 years.

Authors:  Andreas Neu; Lutz Feldhahn; Stefan Ehehalt; Regine Hub; Michael B Ranke
Journal:  Pediatr Diabetes       Date:  2009-06-03       Impact factor: 4.866

7.  A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

Authors:  M Shepherd; B Shields; S Ellard; O Rubio-Cabezas; A T Hattersley
Journal:  Diabet Med       Date:  2009-04       Impact factor: 4.359

Review 8.  Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Authors:  Kara K Osbak; Kevin Colclough; Cecile Saint-Martin; Nicola L Beer; Christine Bellanné-Chantelot; Sian Ellard; Anna L Gloyn
Journal:  Hum Mutat       Date:  2009-11       Impact factor: 4.878

9.  Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes.

Authors:  Rachel E J Besser; Maggie H Shepherd; Timothy J McDonald; Beverley M Shields; Bridget A Knight; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2011-02       Impact factor: 19.112

10.  High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.

Authors:  Tim J McDonald; Beverley M Shields; Jane Lawry; Katharine R Owen; Anna L Gloyn; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2011-06-23       Impact factor: 19.112
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  10 in total

1.  Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.

Authors:  Kurt D Christensen; Sarah K Savage; Noelle L Huntington; Elissa R Weitzman; Sonja I Ziniel; Phoebe L Bacon; Cara N Cacioppo; Robert C Green; Ingrid A Holm
Journal:  J Empir Res Hum Res Ethics       Date:  2017-04       Impact factor: 1.742

Review 2.  When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.

Authors:  Sara Althari; Anna L Gloyn
Journal:  Rev Diabet Stud       Date:  2016-02-10

Review 3.  The Challenges of Treating Glucokinase MODY during Pregnancy: A Review of Maternal and Fetal Outcomes.

Authors:  Alena Kirzhner; Oren Barak; Edi Vaisbuch; Taiba Zornitzki; Tal Schiller
Journal:  Int J Environ Res Public Health       Date:  2022-05-14       Impact factor: 4.614

4.  A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Authors:  Stephanie S Weinreich; Astrid Bosma; Lidewij Henneman; Tessel Rigter; Carla M J Spruijt; Anneliese J E M A Grimbergen; Martijn H Breuning; Eelco J P de Koning; Monique Losekoot; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246

5.  Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

Authors:  Maggie Shepherd; Beverley Shields; Suzanne Hammersley; Michelle Hudson; Timothy J McDonald; Kevin Colclough; Richard A Oram; Bridget Knight; Christopher Hyde; Julian Cox; Katherine Mallam; Christopher Moudiotis; Rebecca Smith; Barbara Fraser; Simon Robertson; Stephen Greene; Sian Ellard; Ewan R Pearson; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2016-06-06       Impact factor: 19.112

6.  Incidence of HNF1A and GCK MODY Variants in a South African Population.

Authors:  Tandi E Matsha; Shanel Raghubeer; Abegail M Tshivhase; Saarah F G Davids; Gloudina M Hon; Lise Bjørkhaug; Rajiv T Erasmus
Journal:  Appl Clin Genet       Date:  2020-12-14

7.  Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Authors:  Mahesh Doddabelavangala Mruthyunjaya; Aaron Chapla; Asha Hesarghatta Shyamasunder; Deny Varghese; Manika Varshney; Johan Paul; Mercy Inbakumari; Flory Christina; Ron Thomas Varghese; Kurien Anil Kuruvilla; Thomas V Paul; Ruby Jose; Annie Regi; Jessie Lionel; L Jeyaseelan; Jiji Mathew; Nihal Thomas
Journal:  PLoS One       Date:  2017-01-17       Impact factor: 3.240

8.  Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.

Authors:  H Yaghootkar; F Abbasi; N Ghaemi; A Rabbani; M N Wakeling; P Eshraghi; S Enayati; S Vakili; S Heidari; K Patel; F Sayarifard; S Borhan-Dayani; T J McDonald; S Ellard; A T Hattersley; M M Amoli; R Vakili; K Colclough
Journal:  Diabet Med       Date:  2019-07-25       Impact factor: 4.359

9.  Targeted sequencing identifies novel variants in common and rare MODY genes.

Authors:  Lucas S de Santana; Lilian A Caetano; Aline D Costa-Riquetto; Pedro C Franco; Renata P Dotto; André F Reis; Letícia S Weinert; Sandra P Silveiro; Marcio F Vendramini; Flaviene A do Prado; Giovanna C P Abrahão; Ana Gregória F P de Almeida; Maria da G Rodrigues Tavares; Wagner Rodrigo B Gonçalves; Augusto C Santomauro Junior; Bruno Halpern; Alexander A L Jorge; Marcia Nery; Milena G Teles
Journal:  Mol Genet Genomic Med       Date:  2019-10-08       Impact factor: 2.183

10.  Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.

Authors:  Mafalda Cascais; Ester Pereira; Alexandra Vieira; Margarida Venâncio; Lina Ramos; Pascoal Moleiro
Journal:  Ann Pediatr Endocrinol Metab       Date:  2019-12-31
  10 in total

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