De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

Charlotte Schramm; Markus Draaken; Enrika Bartels; Thomas M. Boemers; Eberhard Schmiedeke; Sabine Grasshoff-Derr; Stefanie Märzheuser; Stuart Hosie; Stefan Holland-Cunz; Friederike Baudisch; Lutz Priebe; Per Hoffmann; Alexander M. Zink; Hartmut Engels; Felix F. Brockschmidt; Stefan Aretz; Markus M. Nöthen; Michael Ludwig; Heiko Reutter

doi:10.1002/ajmg.a.33820

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M. Boemers, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Friederike Baudisch, Lutz Priebe, Per Hoffmann, Alexander M. Zink, Hartmut Engels, Felix F. Brockschmidt, Stefan Aretz, Markus M. Nöthen, Michael Ludwig, Heiko Reutter

Department of Surgery

Research output: Contribution to journal › Letter › peer-review

21 Scopus citations

Original language	English
Pages (from-to)	445-449
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.33820
State	Published - Feb 2011

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Schramm, C., Draaken, M., Bartels, E., Boemers, T. M., Schmiedeke, E., Grasshoff-Derr, S., Märzheuser, S., Hosie, S., Holland-Cunz, S., Baudisch, F., Priebe, L., Hoffmann, P., Zink, A. M., Engels, H., Brockschmidt, F. F., Aretz, S., Nöthen, M. M., Ludwig, M., & Reutter, H. (2011). De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. American Journal of Medical Genetics, Part A, 155(2), 445-449. https://doi.org/10.1002/ajmg.a.33820

@article{3669dc6645994c63b501502f35018af2,

title = "De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation",

author = "Charlotte Schramm and Markus Draaken and Enrika Bartels and Boemers, {Thomas M.} and Eberhard Schmiedeke and Sabine Grasshoff-Derr and Stefanie M{\"a}rzheuser and Stuart Hosie and Stefan Holland-Cunz and Friederike Baudisch and Lutz Priebe and Per Hoffmann and Zink, {Alexander M.} and Hartmut Engels and Brockschmidt, {Felix F.} and Stefan Aretz and N{\"o}then, {Markus M.} and Michael Ludwig and Heiko Reutter",

year = "2011",

month = feb,

doi = "10.1002/ajmg.a.33820",

language = "English",

volume = "155",

pages = "445--449",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

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}

Schramm, C, Draaken, M, Bartels, E, Boemers, TM, Schmiedeke, E, Grasshoff-Derr, S, Märzheuser, S, Hosie, S, Holland-Cunz, S, Baudisch, F, Priebe, L, Hoffmann, P, Zink, AM, Engels, H, Brockschmidt, FF, Aretz, S, Nöthen, MM, Ludwig, M & Reutter, H 2011, 'De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation', American Journal of Medical Genetics, Part A, vol. 155, no. 2, pp. 445-449. https://doi.org/10.1002/ajmg.a.33820

TY - JOUR

T1 - De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

AU - Schramm, Charlotte

AU - Draaken, Markus

AU - Bartels, Enrika

AU - Boemers, Thomas M.

AU - Schmiedeke, Eberhard

AU - Grasshoff-Derr, Sabine

AU - Märzheuser, Stefanie

AU - Hosie, Stuart

AU - Holland-Cunz, Stefan

AU - Baudisch, Friederike

AU - Priebe, Lutz

AU - Hoffmann, Per

AU - Zink, Alexander M.

AU - Engels, Hartmut

AU - Brockschmidt, Felix F.

AU - Aretz, Stefan

AU - Nöthen, Markus M.

AU - Ludwig, Michael

AU - Reutter, Heiko

PY - 2011/2

Y1 - 2011/2

UR - http://www.scopus.com/inward/record.url?scp=79251513635&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.33820

DO - 10.1002/ajmg.a.33820

M3 - Letter

C2 - 21271671

AN - SCOPUS:79251513635

SN - 1552-4825

VL - 155

SP - 445

EP - 449

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 2

ER -

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

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