Publications by authors named "Catherine Badens"

83Publications

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.

Cells 2020 Aug 23;9(9). Epub 2020 Aug 23.

Marseille Medical Genetics (MMG), INSERM, Aix Marseille University, 13005 Marseille, France.

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http://dx.doi.org/10.3390/cells9091947DOI Listing
August 2020

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.

Atherosclerosis 2020 01 12;293:86-91. Epub 2019 Dec 12.

MARS Cardio, Mediterranean Association for Research and Studies in Cardiology, Intensive Care Unit, Hospital Nord, Marseille, France; Aix Marseille Univ, INSERM, INRA, C2VN, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.12.002DOI Listing
January 2020

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Eur J Med Genet 2019 Oct 2;62(10):103712. Epub 2019 Jul 2.

Pediatric Gastroenterology and Nutrition, Pediatric Hospital la Timone, AP-HM, 264, rue Saint-Pierre, 13385, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103712DOI Listing
October 2019

Rare Alleles and Relatively Frequent Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Front Cell Dev Biol 2019 5;7:48. Epub 2019 Apr 5.

Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

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http://dx.doi.org/10.3389/fcell.2019.00048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459885PMC
April 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

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Hum Mutat 2018 06 25;39(6):774-789. Epub 2018 Mar 25.

Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.

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http://dx.doi.org/10.1002/humu.23418DOI Listing
June 2018

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

Eur J Med Genet 2018 Apr 23;61(4):185-188. Epub 2017 Nov 23.

Faculté de Médecine, Inserm UMRS 910, Aix-Marseille Université, Marseille, France; Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, 264 rue Saint Pierre, APHM, 13005 Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173018
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http://dx.doi.org/10.1016/j.ejmg.2017.11.014DOI Listing
April 2018

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Intractable Rare Dis Res 2017 Aug;6(3):152-157

Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.

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http://dx.doi.org/10.5582/irdr.2017.01040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608923PMC
August 2017

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

J Pediatr Gastroenterol Nutr 2017 01;64(1):37-41

*Pediatric Gastroenterology, Hepatology, and Liver Intestinal Transplantation Unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina †Nutrition et Gastroentérologie Pédiatriques, Hôpital Armand-Trousseau ‡UMR_S U1166 Nutriomics, UPMC, Sorbonne University, Paris, France §Pediatric Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina ||Département de Génétique Médicale, Hôpital de la Timone Enfant ¶UMR_S 910, Aix-Marseille Université #Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone Enfant, Assistance Publique des Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000001218DOI Listing
January 2017

Advances in understanding the pathogenesis of the red cell volume disorders.

Br J Haematol 2016 09 29;174(5):674-85. Epub 2016 Jun 29.

Univ. Nice Sophia Antipolis, CNRS, Inserm, iBV, 06100 Nice, France.

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http://dx.doi.org/10.1111/bjh.14197DOI Listing
September 2016

Platelet and not erythrocyte microparticles are procoagulant in transfused thalassaemia major patients.

Br J Haematol 2015 Nov 24;171(4):615-24. Epub 2015 Jul 24.

Centre de Référence Maladies Rares Thalassémies, Marseille-Lyon, Service d'Hémato-Oncologie Pédiatrique, Hôpital de la Timone, APHM, Marseille, France.

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http://dx.doi.org/10.1111/bjh.13609DOI Listing
November 2015

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Blood 2015 Sep 6;126(11):1273-80. Epub 2015 Jul 6.

Aix-Marseille Université, INSERM, Unité Mixte de Recherche S910, Marseille, France; Assistance Publique-Hopitaux de Marseille, Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France; Assistance Publique-Hopitaux de Marseille, Laboratoire de Biochimie, Hôpital Conception, Marseille, France;

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http://dx.doi.org/10.1182/blood-2015-04-642496DOI Listing
September 2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.

Hemoglobin 2015 25;39(3):156-61. Epub 2015 Mar 25.

Service de Pédiatrie, Centre Hospitalier de Mayotte , Mamoudzou , France .

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http://dx.doi.org/10.3109/03630269.2015.1023897DOI Listing
March 2016

[Beta-thalassemias: molecular, epidemiological, diagnostical and clinical aspects].

Ann Biol Clin (Paris) 2014 Nov-Dec;72(6):639-68

Laboratoire de génétique moléculaire, Hôpital d'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1684/abc.2014.1015DOI Listing
August 2015

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Intractable Rare Dis Res 2014 Feb;3(1):8-11

UMR_S 910, Aix-Marseille Université, Marseille, France; ; Service de Génétique Moléculaire, Hôpital des Enfants de la Timone, APHM, Marseille, France.

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http://dx.doi.org/10.5582/irdr.3.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204543PMC
February 2014

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.

Atherosclerosis 2014 Nov 28;237(1):45-52. Epub 2014 Aug 28.

APHM, CHU de la Timone, Laboratoire de Génétique Moléculaire, Marseille, France; Aix-Marseille Université, Inserm UMR_S U910, Faculté de Médecine, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2014.08.036DOI Listing
November 2014

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Nat Immunol 2014 Sep 27;15(9):839-45. Epub 2014 Jul 27.

Department of Immunology, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ni.2948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139417PMC
September 2014

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Orphanet J Rare Dis 2013 Jan 9;8. Epub 2013 Jan 9.

UMR_S 910, Inserm-Faculté de Médecine, Aix-Marseille Université, 13385 Marseille, France.

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http://dx.doi.org/10.1186/1750-1172-8-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560276PMC
January 2013

A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.

Hemoglobin 2012 24;36(6):581-5. Epub 2012 Oct 24.

Service d'Onco-Hématologie, Hôpital Saint Vincent de Paul, Université Catholique de Lille, Université Nord de France, Lille, France.

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http://www.tandfonline.com/doi/full/10.3109/03630269.2012.72
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http://dx.doi.org/10.3109/03630269.2012.724040DOI Listing
April 2013

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Haematologica 2013 Jan 12;98(1):e7-8. Epub 2012 Oct 12.

Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France.

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http://dx.doi.org/10.3324/haematol.2012.071167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533668PMC
January 2013

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

Arch Dermatol 2012 Jan;148(1):85-8

Laboratoire Associé Institut National de la Santé et de la Récherche Médicale Unité Mixte de Récherche en Santé 910, Université Saint Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1001/archdermatol.2011.343DOI Listing
January 2012

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode.

Clin Biochem 2011 Apr 28;44(5-6):441-3. Epub 2010 Dec 28.

UMR 910, Faculté de Médecine, Université de la Méditerranée, Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120100051
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http://dx.doi.org/10.1016/j.clinbiochem.2010.12.007DOI Listing
April 2011

Neonatal screening for sickle cell disease in France: evaluation of the selective process.

J Clin Pathol 2010 Jun;63(6):548-51

Service d'Hématologie Pédiatrique, Hôpital d'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1136/jcp.2009.068874DOI Listing
June 2010

[Beta-thalassemia major: what is the situation in France?].

Rev Prat 2009 Oct;59(8):1048-50

Laboratoire de génétique moléculaire, Hôpital d'enfants de La timone, 13385 Marseille Cedex 5.

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October 2009

Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.

Genet Test 2008 Dec;12(4):563-8

Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques , Tanger, Maroc.

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http://dx.doi.org/10.1089/gte.2008.0058DOI Listing
December 2008

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.

Eur J Haematol 2008 Apr 10;80(4):346-50. Epub 2007 Dec 10.

Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc.

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http://dx.doi.org/10.1111/j.1600-0609.2007.01017.xDOI Listing
April 2008

Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.

Hemoglobin 2007 ;31(4):433-8

Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc.

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http://dx.doi.org/10.1080/03630260701613210DOI Listing
January 2008

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Eur J Hum Genet 2007 Oct 20;15(10):1094-7. Epub 2007 Jun 20.

Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201878DOI Listing
October 2007

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

Am J Med Genet A 2007 Mar;143A(6):584-8

Multidisciplinary Paediatric Department, Children Hospital of "La Timone", Boulevard Jean Moulin, Marseille Cedex, France.

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http://doi.wiley.com/10.1002/ajmg.a.31634
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http://dx.doi.org/10.1002/ajmg.a.31634DOI Listing
March 2007

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Am J Med Genet A 2006 Oct;140(20):2212-5

Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.31400
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http://dx.doi.org/10.1002/ajmg.a.31400DOI Listing
October 2006

Compound heterozygosity for unstable hemoglobin Genova and beta(o)-thalassemia associated with early onset of thalassemia major syndrome.

Haematologica 2005 Jan;90(1):ECR04

Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, 13385 Marseille Cedex 5, France.

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January 2005

Association of HbS and a new low oxygen affinity variant, Hb Canebière, [beta102(G4)Asn->Lys] in a healthy child.

Haematologica 2004 Sep;89(9):ECR31

Service d'Hématologie Pédiatrique, Hôpital d'enfants de la Timone, 13385 Marseille Cedex 5, France.

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September 2004

Four globin gene defects in a healthy child.

Haematologica 2002 Nov;87(11):ELT42

Centre d'Enseignement et de Recherche en Génétique Médicale (CERGM), Faculté de Médecine de la Timone, Marseille, France.

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November 2002