Lessons from whole-exome sequencing in MODYX families

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Lessons from whole-exome sequencing in MODYX families. / Dusatkova, Petra; Fang, Mingyan; Pruhova, Stepanka; Gjesing, Anette P; Cinek, Ondrej; Hansen, Torben; Pedersen, Oluf B; Xu, Xun; Lebl, Jan.

In: Diabetes Research and Clinical Practice, Vol. 104, No. 3, 06.2014, p. e72-4.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Dusatkova, P, Fang, M, Pruhova, S, Gjesing, AP, Cinek, O, Hansen, T, Pedersen, OB, Xu, X & Lebl, J 2014, 'Lessons from whole-exome sequencing in MODYX families', Diabetes Research and Clinical Practice, vol. 104, no. 3, pp. e72-4. https://doi.org/10.1016/j.diabres.2014.03.008

APA

Dusatkova, P., Fang, M., Pruhova, S., Gjesing, A. P., Cinek, O., Hansen, T., Pedersen, O. B., Xu, X., & Lebl, J. (2014). Lessons from whole-exome sequencing in MODYX families. Diabetes Research and Clinical Practice, 104(3), e72-4. https://doi.org/10.1016/j.diabres.2014.03.008

Vancouver

Dusatkova P, Fang M, Pruhova S, Gjesing AP, Cinek O, Hansen T et al. Lessons from whole-exome sequencing in MODYX families. Diabetes Research and Clinical Practice. 2014 Jun;104(3):e72-4. https://doi.org/10.1016/j.diabres.2014.03.008

Author

Dusatkova, Petra ; Fang, Mingyan ; Pruhova, Stepanka ; Gjesing, Anette P ; Cinek, Ondrej ; Hansen, Torben ; Pedersen, Oluf B ; Xu, Xun ; Lebl, Jan. / Lessons from whole-exome sequencing in MODYX families. In: Diabetes Research and Clinical Practice. 2014 ; Vol. 104, No. 3. pp. e72-4.

Bibtex

@article{3ea4f32c658f4fc1a4e4c8399d70775d,
title = "Lessons from whole-exome sequencing in MODYX families",
abstract = "We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.",
keywords = "Adolescent, Adult, Aged, Diabetes Mellitus, Type 2, Exome, Female, Genome, Human, Hepatocyte Nuclear Factor 1-beta, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Pedigree, Polymorphism, Genetic, Young Adult",
author = "Petra Dusatkova and Mingyan Fang and Stepanka Pruhova and Gjesing, {Anette P} and Ondrej Cinek and Torben Hansen and Pedersen, {Oluf B} and Xun Xu and Jan Lebl",
note = "Copyright {\textcopyright} 2014 Elsevier Ireland Ltd. All rights reserved.",
year = "2014",
month = jun,
doi = "10.1016/j.diabres.2014.03.008",
language = "English",
volume = "104",
pages = "e72--4",
journal = "Diabetes Research and Clinical Practice",
issn = "0168-8227",
publisher = "Elsevier Ireland Ltd",
number = "3",

}

RIS

TY - JOUR

T1 - Lessons from whole-exome sequencing in MODYX families

AU - Dusatkova, Petra

AU - Fang, Mingyan

AU - Pruhova, Stepanka

AU - Gjesing, Anette P

AU - Cinek, Ondrej

AU - Hansen, Torben

AU - Pedersen, Oluf B

AU - Xu, Xun

AU - Lebl, Jan

N1 - Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

PY - 2014/6

Y1 - 2014/6

N2 - We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

AB - We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

KW - Adolescent

KW - Adult

KW - Aged

KW - Diabetes Mellitus, Type 2

KW - Exome

KW - Female

KW - Genome, Human

KW - Hepatocyte Nuclear Factor 1-beta

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Polymorphism, Genetic

KW - Young Adult

U2 - 10.1016/j.diabres.2014.03.008

DO - 10.1016/j.diabres.2014.03.008

M3 - Journal article

C2 - 24698406

VL - 104

SP - e72-4

JO - Diabetes Research and Clinical Practice

JF - Diabetes Research and Clinical Practice

SN - 0168-8227

IS - 3

ER -

ID: 137900086