Annachiara de Sandre-Giovannoli

Annachiara de Sandre-Giovannoli

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Annachiara de Sandre-Giovannoli

Annachiara de Sandre-Giovannoli

Publications by authors named "Annachiara de Sandre-Giovannoli"

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Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.

Joint Bone Spine 2019 07 6;86(4):525-527. Epub 2018 Dec 6.

CHU de Caen, department of rheumatology, avenue de la Côte de Nacre, Caen, 14000, France; Université Caen Normandie, medical School, Caen, 14000, France.

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http://dx.doi.org/10.1016/j.jbspin.2018.11.008DOI Listing
July 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2017.03.011DOI Listing
June 2017

Novel mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

J Med Genet 2016 Nov 22;53(11):776-785. Epub 2016 Jun 22.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103695DOI Listing
November 2016

Metformin decreases progerin expression and alleviates pathological defects of Hutchinson-Gilford progeria syndrome cells.

NPJ Aging Mech Dis 2016 10;2:16026. Epub 2016 Nov 10.

INSERM U861, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic Diseases, Corbeil Essonnes, France.

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http://dx.doi.org/10.1038/npjamd.2016.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515002PMC
November 2016

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Int J Cardiol 2016 Apr 16;209:317-8. Epub 2016 Feb 16.

Department of Medical Genetics, La Timone Hospital, Aix Marseille Université, INSERM, GMGF UMR S 910, 13385 Marseille, France.

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http://dx.doi.org/10.1016/j.ijcard.2016.02.113DOI Listing
April 2016

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:39-40. Epub 2015 Nov 6.

Sorbonne Universités, UPMC Université Paris 06, Inserm UMRS974, CNRS FRE3617, Centre de Recherche en Myologie, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1051/medsci/201531s311DOI Listing
November 2015

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

A new lamin a mutation associated with acrogeria syndrome.

J Invest Dermatol 2014 Aug 1;134(8):2274-2277. Epub 2014 Apr 1.

Aix Marseille Université, GMGF, INSERM, UMR_S 910, Marseille, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.158DOI Listing
August 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

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome.

Stem Cells Transl Med 2014 Apr 5;3(4):510-9. Epub 2014 Mar 5.

INSERM/Université Evry Val d'Essonne 861, and Centre d'Etude des Cellules Souches, Institut for Stem Cell Therapy and Exploration of Monogenic Diseases, Association Française Contre les Myopathies, Institute for Stem Cell Therapy and Exploration of Monogenic Diseases, Evry, France; INSERM-Aix-Marseille Université Unité Mixte de Recherche S 910 Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine Timone, Marseille, France; Department of Dermatology and IMETUM, Technische Universitat Munchen, Munich, Germany; AP-HM Département de Génétique Médicale, Hôpital d'Enfants, Timone, Marseille, France.

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http://dx.doi.org/10.5966/sctm.2013-0168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973719PMC
April 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

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Am J Med Genet A 2013 Jul 29;161A(7):1786-91. Epub 2013 May 29.

Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35984DOI Listing
July 2013

An inherited LMNA gene mutation in atypical Progeria syndrome.

Am J Med Genet A 2012 Nov 18;158A(11):2881-7. Epub 2012 Sep 18.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.35557DOI Listing
November 2012

Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

Cell Rep 2012 Jul 21;2(1):1-9. Epub 2012 Jun 21.

CECS, I-STEM, AFM, Institute for Stem Cell Therapy and Exploration of Monogenic Diseases, 5 rue Henri Desbruères, 91030 Evry cedex, France.

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https://linkinghub.elsevier.com/retrieve/pii/S22111247120014
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http://dx.doi.org/10.1016/j.celrep.2012.05.015DOI Listing
July 2012

Restrictive dermopathy in a Turkish newborn.

Pediatr Dermatol 2011 Jul-Aug;28(4):408-11. Epub 2010 Dec 2.

Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01296.xDOI Listing
December 2011

A conserved splicing mechanism of the LMNA gene controls premature aging.

Hum Mol Genet 2011 Dec 29;20(23):4540-55. Epub 2011 Aug 29.

CNRS, UMR 5535, University of Montpellier, Institut de Génétique Moléculaire de Montpellier, 1919 Route de Mende, Montpellier 34293, France.

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http://dx.doi.org/10.1093/hmg/ddr385DOI Listing
December 2011

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

Genet Test Mol Biomarkers 2009 Oct;13(5):635-9

Inserm UMR_S 910: Génétique des maladies neuromusculaires et des laminopathies, Faculty of Medecine, Marseille, France.

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http://dx.doi.org/10.1089/gtmb.2009.0021DOI Listing
October 2009

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.

Stroke 2009 Feb 18;40(2):e11-4. Epub 2008 Dec 18.

Department of Neurology, CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1161/STROKEAHA.108.531780DOI Listing
February 2009

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.

Mech Ageing Dev 2008 Jul-Aug;129(7-8):449-59. Epub 2008 Apr 12.

INSERM U910, Faculté de Médecine la Timone, 27 Boulevard Jean Moulin, Marseille, France.

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http://dx.doi.org/10.1016/j.mad.2008.04.003DOI Listing
September 2008

An association of Hutchinson-Gilford progeria and malignancy.

Am J Med Genet A 2007 Aug;143A(16):1821-6

The Genetics Institute, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31803DOI Listing
August 2007

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Neuromolecular Med 2006 ;8(1-2):87-106

Departement de Genetique Medicale Hopital d'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1385/nmm:8:1-2:87DOI Listing
March 2007

Altered splicing in prelamin A-associated premature aging phenotypes.

Prog Mol Subcell Biol 2006 ;44:199-232

Laboratoire de Génétique Moléculaire, Département de Génétique Médicale, Hôpital d'Enfants la Timone, 264 Rue St. Pierre, 13385 Marseille, Cedex 5, France.

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http://dx.doi.org/10.1007/978-3-540-34449-0_9DOI Listing
January 2007

Lamin a truncation in Hutchinson-Gilford progeria.

Science 2003 Jun 17;300(5628):2055. Epub 2003 Apr 17.

Inserm U491: Génétique Médicale et Développement, Faculté de Médecine Timone, Marseille, France.

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http://dx.doi.org/10.1126/science.1084125DOI Listing
June 2003