The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Salima El Chehadeh-Djebbar; Laurence Faivre; Anne Moncla; Bernard Aral; Chantal Missirian; Cornel Popovici; Patrick Rump; Anthonie Van Essen; Anne-Marie Frances; Nadege Gigot; Veronica Cusin; Alice Masurel-Paulet; Lucie Gueneau; Muriel Payet; Clemence Ragon; Nathalie Marle; Anne-Laure Mosca-Boidron; Frederic Huet; Irina Balikova; Jean-Raymond Teyssier; Francine Mugneret; Christel Thauvin-Robinet; Patrick Callier

doi:10.1136/jmg.2011.088948

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Salima El Chehadeh-Djebbar
, Laurence Faivre^*
, Anne Moncla
, Bernard Aral
, Chantal Missirian
, Cornel Popovici
, Patrick Rump
, Anthonie Van Essen
, Anne-Marie Frances
, Nadege Gigot
, Veronica Cusin
, Alice Masurel-Paulet
, Lucie Gueneau
, Muriel Payet
, Clemence Ragon
, Nathalie Marle
, Anne-Laure Mosca-Boidron
, Frederic Huet
, Irina Balikova
, Jean-Raymond Teyssier

Francine Mugneret, Christel Thauvin-Robinet, Patrick Callier

^*Corresponding author for this work

Research output: Contribution to journal › Letter (Research letter) › Academic › peer-review

8 Citations (Scopus)

Original language	English
Article number	1
Number of pages	3
Journal	Journal of Medical Genetics
Volume	48
Issue number	11
DOIs	https://doi.org/10.1136/jmg.2011.088948
Publication status	Published - Nov-2011

Keywords

DIAGNOSTIC-CRITERIA
DELINEATION
DELETIONS
GENE

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El Chehadeh-Djebbar, S., Faivre, L., Moncla, A., Aral, B., Missirian, C., Popovici, C., Rump, P., Van Essen, A., Frances, A.-M., Gigot, N., Cusin, V., Masurel-Paulet, A., Gueneau, L., Payet, M., Ragon, C., Marle, N., Mosca-Boidron, A.-L., Huet, F., Balikova, I., ... Callier, P. (2011). The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. Journal of Medical Genetics, 48(11), Article 1. https://doi.org/10.1136/jmg.2011.088948

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title = "The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome",

keywords = "DIAGNOSTIC-CRITERIA, DELINEATION, DELETIONS, GENE",

author = "\{El Chehadeh-Djebbar\}, Salima and Laurence Faivre and Anne Moncla and Bernard Aral and Chantal Missirian and Cornel Popovici and Patrick Rump and \{Van Essen\}, Anthonie and Anne-Marie Frances and Nadege Gigot and Veronica Cusin and Alice Masurel-Paulet and Lucie Gueneau and Muriel Payet and Clemence Ragon and Nathalie Marle and Anne-Laure Mosca-Boidron and Frederic Huet and Irina Balikova and Jean-Raymond Teyssier and Francine Mugneret and Christel Thauvin-Robinet and Patrick Callier",

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doi = "10.1136/jmg.2011.088948",

language = "English",

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El Chehadeh-Djebbar, S, Faivre, L, Moncla, A, Aral, B, Missirian, C, Popovici, C, Rump, P, Van Essen, A, Frances, A-M, Gigot, N, Cusin, V, Masurel-Paulet, A, Gueneau, L, Payet, M, Ragon, C, Marle, N, Mosca-Boidron, A-L, Huet, F, Balikova, I, Teyssier, J-R, Mugneret, F, Thauvin-Robinet, C & Callier, P 2011, 'The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome', Journal of Medical Genetics, vol. 48, no. 11, 1. https://doi.org/10.1136/jmg.2011.088948

TY - JOUR

T1 - The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

AU - El Chehadeh-Djebbar, Salima

AU - Faivre, Laurence

AU - Moncla, Anne

AU - Aral, Bernard

AU - Missirian, Chantal

AU - Popovici, Cornel

AU - Rump, Patrick

AU - Van Essen, Anthonie

AU - Frances, Anne-Marie

AU - Gigot, Nadege

AU - Cusin, Veronica

AU - Masurel-Paulet, Alice

AU - Gueneau, Lucie

AU - Payet, Muriel

AU - Ragon, Clemence

AU - Marle, Nathalie

AU - Mosca-Boidron, Anne-Laure

AU - Huet, Frederic

AU - Balikova, Irina

AU - Teyssier, Jean-Raymond

AU - Mugneret, Francine

AU - Thauvin-Robinet, Christel

AU - Callier, Patrick

PY - 2011/11

Y1 - 2011/11

KW - DIAGNOSTIC-CRITERIA

KW - DELINEATION

KW - DELETIONS

KW - GENE

U2 - 10.1136/jmg.2011.088948

DO - 10.1136/jmg.2011.088948

M3 - Letter (Research letter)

SN - 0022-2593

VL - 48

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 11

M1 - 1

ER -