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Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

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Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant. / Kerl, Kornelius; Oyen, Florian; Giannikopoulou, Dimitra; Rössig, Claudia; Rellensmann, Georg; Sandkötter, Julia; Brentrup, Angela; Selzer, Georg; Schneppenheim, Reinhard; Frühwald, Michael C.

In: PEDIATR BLOOD CANCER, Vol. 63, No. 8, 19.04.2016, p. 1451-3.

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

Harvard

Kerl, K, Oyen, F, Giannikopoulou, D, Rössig, C, Rellensmann, G, Sandkötter, J, Brentrup, A, Selzer, G, Schneppenheim, R & Frühwald, MC 2016, 'Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant', PEDIATR BLOOD CANCER, vol. 63, no. 8, pp. 1451-3. https://doi.org/10.1002/pbc.25996

APA

Kerl, K., Oyen, F., Giannikopoulou, D., Rössig, C., Rellensmann, G., Sandkötter, J., Brentrup, A., Selzer, G., Schneppenheim, R., & Frühwald, M. C. (2016). Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant. PEDIATR BLOOD CANCER, 63(8), 1451-3. https://doi.org/10.1002/pbc.25996

Vancouver

Kerl K, Oyen F, Giannikopoulou D, Rössig C, Rellensmann G, Sandkötter J et al. Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant. PEDIATR BLOOD CANCER. 2016 Apr 19;63(8):1451-3. https://doi.org/10.1002/pbc.25996

Bibtex

@article{e08a4fe4b79b43209feac02b719ec52d,
title = "Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant",
abstract = "We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.",
author = "Kornelius Kerl and Florian Oyen and Dimitra Giannikopoulou and Claudia R{\"o}ssig and Georg Rellensmann and Julia Sandk{\"o}tter and Angela Brentrup and Georg Selzer and Reinhard Schneppenheim and Fr{\"u}hwald, {Michael C}",
note = "{\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2016",
month = apr,
day = "19",
doi = "10.1002/pbc.25996",
language = "English",
volume = "63",
pages = "1451--3",
journal = "PEDIATR BLOOD CANCER",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "8",

}

RIS

TY - JOUR

T1 - Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

AU - Kerl, Kornelius

AU - Oyen, Florian

AU - Giannikopoulou, Dimitra

AU - Rössig, Claudia

AU - Rellensmann, Georg

AU - Sandkötter, Julia

AU - Brentrup, Angela

AU - Selzer, Georg

AU - Schneppenheim, Reinhard

AU - Frühwald, Michael C

N1 - © 2016 Wiley Periodicals, Inc.

PY - 2016/4/19

Y1 - 2016/4/19

N2 - We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

AB - We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

U2 - 10.1002/pbc.25996

DO - 10.1002/pbc.25996

M3 - SCORING: Journal article

C2 - 27092963

VL - 63

SP - 1451

EP - 1453

JO - PEDIATR BLOOD CANCER

JF - PEDIATR BLOOD CANCER

SN - 1545-5009

IS - 8

ER -