Sabine Sigaudy

Sabine Sigaudy

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Sabine Sigaudy

Sabine Sigaudy

Publications by authors named "Sabine Sigaudy"

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SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Clin Dysmorphol 2019 Oct;28(4):205-210

APHM, CHU Timone Enfants, Département de Génétique Médicale.

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http://dx.doi.org/10.1097/MCD.0000000000000293DOI Listing
October 2019

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Am J Med Genet A 2019 Sep 11. Epub 2019 Sep 11.

Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France.

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http://dx.doi.org/10.1002/ajmg.a.61359DOI Listing
September 2019

The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

Prenat Diagn 2019 Jun 10;39(7):549-562. Epub 2019 May 10.

Centre Pluridisciplinaire de Diagnostic Prénatal, AP-HM La Timone, 264 Rue Saint Pierre, 13005, Marseille, France.

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http://dx.doi.org/10.1002/pd.5469DOI Listing
June 2019

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Antenatal prognostic factor of fetal echogenic bowel.

Eur J Obstet Gynecol Reprod Biol 2017 May 3;212:166-170. Epub 2017 Mar 3.

Department of Gynecology and Obstetrics, Pole femme enfant, Marseille, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, AMU, Aix-Marseille Université and A*MIDEX «CREER» (n° ANR-11-IDEX-0001-02), France; Aix-Marseille Université, Unité de Recherche sur les Maladies Infectieuses Tropicales et Emergentes, UM63, CNRS 7278, IRD 198, INSERM 1095, Marseille, France; Center for Prenatal Diagnosis, Timone Children's Hospital, Assistance Publique Hopitaux de Marseille, Aix-Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.

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http://dx.doi.org/10.1016/j.ejogrb.2017.01.060DOI Listing
May 2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI Listing
March 2017

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

Prenat Diagn 2016 Jun 12;36(6):561-7. Epub 2016 May 12.

Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1002/pd.4825DOI Listing
June 2016

Prenatal findings in cardio-facio-cutaneous syndrome.

Am J Med Genet A 2016 Feb 22;170A(2):441-445. Epub 2015 Oct 22.

Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37420DOI Listing
February 2016

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Eur J Hum Genet 2015 Aug 4;23(8):1051-61. Epub 2015 Feb 4.

1] Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France [2] Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d'Enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2014.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795109PMC
August 2015

Whole ARX gene duplication is compatible with normal intellectual development.

Am J Med Genet A 2014 Sep 7;164A(9):2324-7. Epub 2014 Jul 7.

APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36564
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http://dx.doi.org/10.1002/ajmg.a.36564DOI Listing
September 2014

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Semin Cell Dev Biol 2014 May 22;29:125-47. Epub 2014 Mar 22.

Aix-Marseille Université, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France; INSERM, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France; AP-HM, Département de Génétique Médicale, Hôpital d'enfants Timone, 264 Rue Saint Pierre, 13385 Marseille Cedex 5, France. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2014.03.021DOI Listing
May 2014

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

BMC Med Genet 2014 May 2;15:51. Epub 2014 May 2.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1186/1471-2350-15-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022398PMC
May 2014

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Semin Cell Dev Biol 2014 Mar 28. Epub 2014 Mar 28.

Aix-Marseille Université, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France(1); INSERM, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France(1); AP-HM, Département de Génétique Médicale, Hôpital d'enfants Timone, 264 Rue Saint Pierre, 13385 Marseille Cedex 5, France(3). Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2014.03.022DOI Listing
March 2014

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

[Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1].

Ann Pathol 2012 Feb 27;32(1):58-64. Epub 2012 Jan 27.

Service d'anatomie pathologique et de neuropathologie, hôpital Timone-Adultes, Assistance publique-Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.annpat.2011.10.007DOI Listing
February 2012

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Eur J Med Genet 2010 Nov-Dec;53(6):367-70. Epub 2010 Jul 24.

Department of Obstetrics and Gynaecology, Hospital Nord, Marseilles France, AP-HM, CNRS-IRD UMR 6236, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.008DOI Listing
June 2011

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Eur J Med Genet 2010 Sep-Oct;53(5):318-21. Epub 2010 Jul 30.

Laboratoire d'Anatomie Pathologique et Neuropathologie, Assistance Publique-Hôpitaux de Marseille, Hôpital la Timone, Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100007
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http://dx.doi.org/10.1016/j.ejmg.2010.07.005DOI Listing
January 2011

Acrocallosal syndrome in fetus: focus on additional brain abnormalities.

Acta Neuropathol 2008 Jan 26;115(1):151-6. Epub 2007 Jun 26.

Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385, Marseille Cedex 05, France.

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http://link.springer.com/content/pdf/10.1007/s00401-007-0249
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http://link.springer.com/10.1007/s00401-007-0249-y
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http://dx.doi.org/10.1007/s00401-007-0249-yDOI Listing
January 2008

Behavioral and temperamental features of children with Costello syndrome.

Am J Med Genet A 2006 May;140(9):968-74

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, Bordeaux2 University, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.31169DOI Listing
May 2006

MR imaging of acquired fetal brain disorders.

Childs Nerv Syst 2003 Aug 21;19(7-8):490-500. Epub 2003 Jun 21.

Department of Radiology, AP-HM Nord, Université de la Méditerranée, Chemin des Bourrelly, 13915 Marseille Cedex 20, France.

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http://dx.doi.org/10.1007/s00381-003-0761-xDOI Listing
August 2003

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Am J Med Genet A 2003 Aug;121A(2):109-12

Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.20186DOI Listing
August 2003

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Prenat Diagn 2002 Jul;22(7):567-8

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

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http://doi.wiley.com/10.1002/pd.369
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http://dx.doi.org/10.1002/pd.369DOI Listing
July 2002