Publications by authors named "Candace Bensignor"

4Publications

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

Authors:
Salima El Chehadeh Wilhelmina S Kerstjens-Frederikse Julien Thevenon Paul Kuentz Ange-Line Bruel Christel Thauvin-Robinet Candace Bensignor Hélène Dollfus Vincent Laugel Jean-Baptiste Rivière Yannis Duffourd Caroline Bonnet Matthieu P Robert Rodica Isaiko Morgane Straub Catherine Creuzot-Garcher Patrick Calvas Nicolas Chassaing Bart Loeys Edwin Reyniers Geert Vandeweyer Frank Kooy Miroslava Hančárová Marketa Havlovicová Darina Prchalová Zdenek Sedláček Christian Gilissen Rolph Pfundt Jolien S Klein Wassink-Ruiter Laurence Faivre

Eur J Hum Genet 2016 01 2;25(1):43-51. Epub 2016 Nov 2.

FHU TRANSLAD, Centre de Référence Maladies Rares de l'Est, Centre de Génétique, CHU de Dijon, Dijon, France.

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January 2016

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Authors:
Laurent Desch Nathalie Marle Anne-Laure Mosca-Boidron Laurence Faivre Marie Eliade Muriel Payet Clemence Ragon Julien Thevenon Bernard Aral Sylviane Ragot Azarnouche Ardalan Nabila Dhouibi Candace Bensignor Christel Thauvin-Robinet Salima El Chehadeh Patrick Callier

Mol Cytogenet 2015 25;8:42. Epub 2015 Jun 25.

Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.

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June 2015

[Results of early growth hormone treatment in children with hypopituitarism].

Authors:
Frédéric Huet Candace Bensignor Michel Polak Jean-Claude Carel

Bull Acad Natl Med 2012 Jan;196(1):117-23; discussion 123-5

Pédiatrie 1 et Génétique Médicale, Hôpital d'Enfants, Bd de Lattre de Tassigny--21079 Dijon cedex.

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January 2012

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

Authors:
Salima El Chehadeh-Djebbar Patrick Callier Alice Masurel-Paulet Candace Bensignor Nathalie Méjean Muriel Payet Clémence Ragon Christine Durand Nathalie Marle Anne-Laure Mosca-Boidron Frédéric Huet Francine Mugneret Laurence Faivre Christel Thauvin-Robinet

Eur J Med Genet 2011 May-Jun;54(3):369-73. Epub 2011 Mar 30.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France.

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September 2011