Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Ineke Labrijn-Marks; Galhana M. Somers-Bolman; Stijn L. M. In't Groen; Marianne Hoogeveen-Westerveld; Marian A. Kroos; Sirpa Ala-Mello; Olga Amaral; Clara Sa Miranda; Irene Mavridou; Helen Michelakakis; Karin Naess; Frans W. Verheijen; Lies H. Hoefsloot; Trijnie Dijkhuizen; Marloes Benjamins; Hannerieke J. M. van den Hout; Ans T. van der Ploeg; W. W. M. Pim Pijnappel; Jasper J. Saris; Dicky J. Halley

doi:10.1038/s41431-019-0348-y

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Ineke Labrijn-Marks, Galhana M. Somers-Bolman, Stijn L. M. In't Groen, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Sirpa Ala-Mello, Olga Amaral, Clara Sa Miranda, Irene Mavridou, Helen Michelakakis, Karin Naess, Frans W. Verheijen, Lies H. Hoefsloot, Trijnie Dijkhuizen, Marloes Benjamins, Hannerieke J. M. van den Hout, Ans T. van der Ploeg, W. W. M. Pim Pijnappel, Jasper J. Saris, Dicky J. Halley

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	European Journal of Human Genetics
Vuosikerta	27
Numero	6
Sivut	919-927
Sivumäärä	9
ISSN	1018-4813
DOI - pysyväislinkit	https://doi.org/10.1038/s41431-019-0348-y
Tila	Julkaistu - kesäk. 2019
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet
1184 Genetiikka, kehitysbiologia, fysiologia
1182 Biokemia, solu- ja molekyylibiologia

Pääsy asiakirjaan

10.1038/s41431-019-0348-y

s41431-019-0348-yLopullinen julkaistu versio, 711 KBLisenssi: CC BY

Siteeraa tätä

Labrijn-Marks, I., Somers-Bolman, G. M., Groen, S. L. M. I., Hoogeveen-Westerveld, M., Kroos, M. A., Ala-Mello, S., Amaral, O., Miranda, C. S., Mavridou, I., Michelakakis, H., Naess, K., Verheijen, F. W., Hoefsloot, L. H., Dijkhuizen, T., Benjamins, M., van den Hout, H. J. M., van der Ploeg, A. T., Pijnappel, W. W. M. P., Saris, J. J., & Halley, D. J. (2019). Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays. European Journal of Human Genetics, 27(6), 919-927. https://doi.org/10.1038/s41431-019-0348-y

@article{0b6061a7bdf44bc58130ce60c5e53d97,

title = "Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays",

keywords = "CYSTIC-FIBROSIS, DISOMY, GENE, HOMOZYGOSITY, MOSAICISM, DELETION, PATIENT, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology, 1182 Biochemistry, cell and molecular biology",

author = "Ineke Labrijn-Marks and Somers-Bolman, {Galhana M.} and Groen, {Stijn L. M. In't} and Marianne Hoogeveen-Westerveld and Kroos, {Marian A.} and Sirpa Ala-Mello and Olga Amaral and Miranda, {Clara Sa} and Irene Mavridou and Helen Michelakakis and Karin Naess and Verheijen, {Frans W.} and Hoefsloot, {Lies H.} and Trijnie Dijkhuizen and Marloes Benjamins and {van den Hout}, {Hannerieke J. M.} and {van der Ploeg}, {Ans T.} and Pijnappel, {W. W. M. Pim} and Saris, {Jasper J.} and Halley, {Dicky J.}",

year = "2019",

month = jun,

doi = "10.1038/s41431-019-0348-y",

language = "English",

volume = "27",

pages = "919--927",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "6",

}

Labrijn-Marks, I, Somers-Bolman, GM, Groen, SLMI, Hoogeveen-Westerveld, M, Kroos, MA, Ala-Mello, S, Amaral, O, Miranda, CS, Mavridou, I, Michelakakis, H, Naess, K, Verheijen, FW, Hoefsloot, LH, Dijkhuizen, T, Benjamins, M, van den Hout, HJM, van der Ploeg, AT, Pijnappel, WWMP, Saris, JJ & Halley, DJ 2019, 'Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays', European Journal of Human Genetics, Vuosikerta 27, Nro 6, Sivut 919-927. https://doi.org/10.1038/s41431-019-0348-y

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays. / Labrijn-Marks, Ineke; Somers-Bolman, Galhana M.; Groen, Stijn L. M. In't et al.
julkaisussa: European Journal of Human Genetics, Vuosikerta 27, Nro 6, 06.2019, s. 919-927.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

T1 - Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders

T2 - evidence from SNP arrays

AU - Labrijn-Marks, Ineke

AU - Somers-Bolman, Galhana M.

AU - Groen, Stijn L. M. In't

AU - Hoogeveen-Westerveld, Marianne

AU - Kroos, Marian A.

AU - Ala-Mello, Sirpa

AU - Amaral, Olga

AU - Miranda, Clara Sa

AU - Mavridou, Irene

AU - Michelakakis, Helen

AU - Naess, Karin

AU - Verheijen, Frans W.

AU - Hoefsloot, Lies H.

AU - Dijkhuizen, Trijnie

AU - Benjamins, Marloes

AU - van den Hout, Hannerieke J. M.

AU - van der Ploeg, Ans T.

AU - Pijnappel, W. W. M. Pim

AU - Saris, Jasper J.

AU - Halley, Dicky J.

PY - 2019/6

Y1 - 2019/6

KW - CYSTIC-FIBROSIS

KW - DISOMY

KW - GENE

KW - HOMOZYGOSITY

KW - MOSAICISM

KW - DELETION

KW - PATIENT

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.1038/s41431-019-0348-y

DO - 10.1038/s41431-019-0348-y

M3 - Article

SN - 1018-4813

VL - 27

SP - 919

EP - 927

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -