Targeted sequencing identifies novel variants in common and rare MODY genes-Reference-Cited by-同舟云学术

Targeted sequencing identifies novel variants in common and rare MODY genes

Published:2019-10-08 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Santana Lucas S.¹^ORCID,Caetano Lilian A.¹²^ORCID,Costa‐Riquetto Aline D.¹²,Franco Pedro C.¹²,Dotto Renata P.³,Reis André F.³,Weinert Letícia S.⁴,Silveiro Sandra P.⁴,Vendramini Marcio F.⁵,Prado Flaviene A.⁶,Abrahão Giovanna C. P.⁷,Almeida Ana Gregória F. P.⁸,Tavares Maria da G. Rodrigues⁹,Gonçalves Wagner Rodrigo B.¹⁰,Santomauro Junior Augusto C.¹¹,Halpern Bruno¹²,Jorge Alexander A. L.¹^ORCID,Nery Marcia²,Teles Milena G.¹²^ORCID

Affiliation:

1. Monogenic Diabetes Group Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25 School of Medicine University of Sao Paulo (USP) Sao Paulo SP Brazil

2. Diabetes Unit Clinics Hospital School of Medicine University of Sao Paulo (USP) Sao Paulo SP Brazil

3. Departamento de Medicina Disciplina de Endocrinologia Universidade Federal de São Paulo (UNIFESP) Sao Paulo SP Brazil

4. Universidade Federal do Rio Grande do Sul (UFRGS) Porto Alegre RS Brazil

5. Serviço de Endocrinologia Hospital do Servidor Público Estadual de São Paulo (HSPE‐SP) Sao Paulo SP Brazil

6. Hospital Regional de Taguatinga da Secretaria de Saúde do Distrito Federal Taguatinga DF Brazil

7. Pontifícia Universidade Católica de São Paulo (PUCSP) Sao Paulo SP Brazil

8. Instituto Federal de Educação Ciência e Tecnologia do Maranhão (IFMA) Sao Luis MA Brazil

9. Serviço de Endocrinologia do Hospital Universitário Universidade Federal do Maranhão (UFMA) Sao Luis MA Brazil

10. Hospital do Servidor Público Municipal de São Paulo (HSPM‐SP) Sao Paulo SP Brazil

11. Serviço de Endocrinologia Prof. Dr. Fadlo Fraige Filho Hospital Beneficência Portuguesa de São Paulo (BP‐SP) Sao Paulo SP Brazil

12. Departamento de Endocrinologia e Metabologia Hospital das Clínicas Faculdade de Medicina Universidade de São Paulo (USP) Sao Paulo SP Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.962

Reference98 articles.

1. Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

2. 2. Classification and Diagnosis of Diabetes

3. The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3

4. Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations

5. Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

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