Institut for Biomedicin

Lars Bolund

Methylation specific Multiplex Ligation-dependent Probe Amplification: utility for prenatal diagnosis of parental origin in human triploidy

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Methylation specific Multiplex Ligation-dependent Probe Amplification : utility for prenatal diagnosis of parental origin in human triploidy. / Joergensen, M W; Rasmussen, A A; Niemann, I; Hindkjaer, J; Agerholm, I; Bolund, Lars; Kolvraa, S; Sunde, L.

I: Prenatal Diagnosis, Bind 33, Nr. 12, 24.07.2013, s. 1131-1136.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Author

Joergensen, M W ; Rasmussen, A A ; Niemann, I ; Hindkjaer, J ; Agerholm, I ; Bolund, Lars ; Kolvraa, S ; Sunde, L. / Methylation specific Multiplex Ligation-dependent Probe Amplification : utility for prenatal diagnosis of parental origin in human triploidy. I: Prenatal Diagnosis. 2013 ; Bind 33, Nr. 12. s. 1131-1136.

Bibtex

@article{a569c01ef87d4d7eb5e7380bbcc82f9a,
title = "Methylation specific Multiplex Ligation-dependent Probe Amplification: utility for prenatal diagnosis of parental origin in human triploidy",
abstract = "When a triploid pregnancy is diagnosed prenatally, gynaecologists have traditionally relied on the histopathological examination of the tissue from the terminated pregnancy to determine if the pregnancy is molar. However, reproducibility is poor and variability is high when diagnosing hydatidiform moles. Triploid pregnancies can have either the chromosomal constitution of two maternal and one paternal set or two paternal and one maternal set but only the conceptuses with two paternal sets have the potential to cause maternal complications. Therefore it would be beneficial to introduce a method that gives the gynaecologist the parental origin of the genome of the triploid conceptus as early as possible, without delaying the process by first collecting parental samples.",
author = "Joergensen, {M W} and Rasmussen, {A A} and I Niemann and J Hindkjaer and I Agerholm and Lars Bolund and S Kolvraa and L Sunde",
note = "This article is protected by copyright. All rights reserved.",
year = "2013",
month = "7",
day = "24",
doi = "10.1002/pd.4206",
language = "English",
volume = "33",
pages = "1131--1136",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "JohnWiley & Sons Ltd.",
number = "12",

}

RIS

TY - JOUR

T1 - Methylation specific Multiplex Ligation-dependent Probe Amplification

T2 - utility for prenatal diagnosis of parental origin in human triploidy

AU - Joergensen, M W

AU - Rasmussen, A A

AU - Niemann, I

AU - Hindkjaer, J

AU - Agerholm, I

AU - Bolund, Lars

AU - Kolvraa, S

AU - Sunde, L

N1 - This article is protected by copyright. All rights reserved.

PY - 2013/7/24

Y1 - 2013/7/24

N2 - When a triploid pregnancy is diagnosed prenatally, gynaecologists have traditionally relied on the histopathological examination of the tissue from the terminated pregnancy to determine if the pregnancy is molar. However, reproducibility is poor and variability is high when diagnosing hydatidiform moles. Triploid pregnancies can have either the chromosomal constitution of two maternal and one paternal set or two paternal and one maternal set but only the conceptuses with two paternal sets have the potential to cause maternal complications. Therefore it would be beneficial to introduce a method that gives the gynaecologist the parental origin of the genome of the triploid conceptus as early as possible, without delaying the process by first collecting parental samples.

AB - When a triploid pregnancy is diagnosed prenatally, gynaecologists have traditionally relied on the histopathological examination of the tissue from the terminated pregnancy to determine if the pregnancy is molar. However, reproducibility is poor and variability is high when diagnosing hydatidiform moles. Triploid pregnancies can have either the chromosomal constitution of two maternal and one paternal set or two paternal and one maternal set but only the conceptuses with two paternal sets have the potential to cause maternal complications. Therefore it would be beneficial to introduce a method that gives the gynaecologist the parental origin of the genome of the triploid conceptus as early as possible, without delaying the process by first collecting parental samples.

U2 - 10.1002/pd.4206

DO - 10.1002/pd.4206

M3 - Journal article

C2 - 23881788

VL - 33

SP - 1131

EP - 1136

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 12

ER -