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Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci : a detailed follow-up. / Boonen, Susanne E; Mackay, Deborah J G; Hahnemann, Johanne M D; Docherty, Louise; Grønskov, Karen; Lehmann, Anna; Larsen, Lise G; Haemers, Andreas P; Kockaerts, Yves; Dooms, Lutgarde; Vu, Dung Chí; Ngoc, C T Bich; Nguyen, Phuong Bich; Kordonouri, Olga; Sundberg, Frida; Dayanikli, Pinar; Puthi, Vijith; Acerini, Carlo; Massoud, Ahmed F; Tümer, Zeynep; Temple, I Karen.
I:
Diabetes Care, Bind 36, Nr. 3, 03.2013, s. 505-12.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Boonen, SE, Mackay, DJG, Hahnemann, JMD, Docherty, L, Grønskov, K, Lehmann, A, Larsen, LG, Haemers, AP, Kockaerts, Y, Dooms, L, Vu, DC, Ngoc, CTB, Nguyen, PB, Kordonouri, O, Sundberg, F, Dayanikli, P, Puthi, V, Acerini, C, Massoud, AF
, Tümer, Z & Temple, IK 2013, '
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up',
Diabetes Care, bind 36, nr. 3, s. 505-12.
https://doi.org/10.2337/dc12-0700APA
Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Grønskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Vu, D. C., Ngoc, C. T. B., Nguyen, P. B., Kordonouri, O., Sundberg, F., Dayanikli, P., Puthi, V., Acerini, C., Massoud, A. F., ... Temple, I. K. (2013).
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
Diabetes Care,
36(3), 505-12.
https://doi.org/10.2337/dc12-0700Vancouver
Boonen SE, Mackay DJG, Hahnemann JMD, Docherty L, Grønskov K, Lehmann A o.a.
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
Diabetes Care. 2013 mar.;36(3):505-12.
https://doi.org/10.2337/dc12-0700Author
Boonen, Susanne E ; Mackay, Deborah J G ; Hahnemann, Johanne M D ; Docherty, Louise ; Grønskov, Karen ; Lehmann, Anna ; Larsen, Lise G ; Haemers, Andreas P ; Kockaerts, Yves ; Dooms, Lutgarde ; Vu, Dung Chí ; Ngoc, C T Bich ; Nguyen, Phuong Bich ; Kordonouri, Olga ; Sundberg, Frida ; Dayanikli, Pinar ; Puthi, Vijith ; Acerini, Carlo ; Massoud, Ahmed F ; Tümer, Zeynep ; Temple, I Karen. / Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci : a detailed follow-up. I: Diabetes Care. 2013 ; Bind 36, Nr. 3. s. 505-12.
Bibtex
@article{3c38fa680be8437c94e8ba70f5121896,
title = "Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up",
abstract = "Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.",
author = "Boonen, {Susanne E} and Mackay, {Deborah J G} and Hahnemann, {Johanne M D} and Louise Docherty and Karen Gr{\o}nskov and Anna Lehmann and Larsen, {Lise G} and Haemers, {Andreas P} and Yves Kockaerts and Lutgarde Dooms and Vu, {Dung Ch{\'i}} and Ngoc, {C T Bich} and Nguyen, {Phuong Bich} and Olga Kordonouri and Frida Sundberg and Pinar Dayanikli and Vijith Puthi and Carlo Acerini and Massoud, {Ahmed F} and Zeynep T{\"u}mer and Temple, {I Karen}",
year = "2013",
month = mar,
doi = "10.2337/dc12-0700",
language = "English",
volume = "36",
pages = "505--12",
journal = "Diabetes Care",
issn = "0149-5992",
publisher = "American Diabetes Association",
number = "3",
}
RIS
TY - JOUR
T1 - Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci
T2 - a detailed follow-up
AU - Boonen, Susanne E
AU - Mackay, Deborah J G
AU - Hahnemann, Johanne M D
AU - Docherty, Louise
AU - Grønskov, Karen
AU - Lehmann, Anna
AU - Larsen, Lise G
AU - Haemers, Andreas P
AU - Kockaerts, Yves
AU - Dooms, Lutgarde
AU - Vu, Dung Chí
AU - Ngoc, C T Bich
AU - Nguyen, Phuong Bich
AU - Kordonouri, Olga
AU - Sundberg, Frida
AU - Dayanikli, Pinar
AU - Puthi, Vijith
AU - Acerini, Carlo
AU - Massoud, Ahmed F
AU - Tümer, Zeynep
AU - Temple, I Karen
PY - 2013/3
Y1 - 2013/3
N2 - Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.
AB - Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.
U2 - 10.2337/dc12-0700
DO - 10.2337/dc12-0700
M3 - Journal article
C2 - 23150280
VL - 36
SP - 505
EP - 512
JO - Diabetes Care
JF - Diabetes Care
SN - 0149-5992
IS - 3
ER -
