Fanny Morice-Picard

Fanny Morice-Picard

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Fanny Morice-Picard

Fanny Morice-Picard

Publications by authors named "Fanny Morice-Picard"

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Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.

Authors:
Maud Jordan Virginie Carmignac Arthur Sorlin Paul Kuentz Juliette Albuisson Luca Borradori Emmanuelle Bourrat Odile Boute Nenad Bukvic Anne-Claire Bursztejn Christine Chiaverini Bruno Delobel Marine Fournet Jehanne Martel Alice Goldenberg Smaïl Hadj-Rabia Antoine Mahé Annabel Maruani Juliette Mazereeuw Cyril Mignot Fanny Morice-Picard Marie-Laure Moutard Florence Petit Justine Pasteur Alice Phan Sandra Whalen Marjolaine Willems Christophe Philippe Pierre Vabres

J Invest Dermatol 2019 Nov 11. Epub 2019 Nov 11.

Service de dermatologie, CHU Dijon Bourgogne, Dijon, France; Equipe INSERM UMR1231, Génétique des Anomalies du développement, Université Bourgogne Franche-Comté, Dijon, France; Centre de référence MAGEC-Mosaique CHU de Dijon, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
November 2019

Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis.

Authors:
Fanny Morice-Picard Vincent Michaud Eulalie Lasseaux Hamid Reza Rezvani Claudio Plaisant Didier Bessis Christine Leauté-Labrèze Benoit Arveiler Alain Taieb Aurélien Trimouille Franck Boralevi

J Invest Dermatol 2019 Nov 29. Epub 2019 Nov 29.

Service de Dermatologie Pédiatrique, Université de Bordeaux, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France; Université de Bordeaux, INSERM, U1211, Bordeaux, France.

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http://dx.doi.org/10.1016/j.jid.2019.10.014DOI Listing
November 2019

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Authors:
Juliette Mazereeuw-Hautier Maella Severino-Freire Véronique Gaston Hélène Teixer Marie Vincent Hélène Aubert Fanny Morice-Picard Nathalie Jonca

Acta Derm Venereol 2019 Oct 21. Epub 2019 Oct 21.

Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, FR-31000 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-3359DOI Listing
October 2019

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the gene.

Authors:
Solene Monfermé Eulalie Lasseaux Catherine Duncombe-Poulet Christian Hamel Sabine Defoort-Dhellemmes Isabelle Drumare Xavier Zanlonghi Hélène Dollfus Yaurama Perdomo Dominique Bonneau Jean-François Korobelnik Claudio Plaisant Vincent Michaud Perrine Pennamen Caroline Rooryck-Thambo Fanny Morice-Picard Clement Paya Benoit Arveiler

Br J Ophthalmol 2019 Sep 24;103(9):1239-1247. Epub 2018 Nov 24.

Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2018-3127
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http://dx.doi.org/10.1136/bjophthalmol-2018-312729DOI Listing
September 2019

Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.

Authors:
Clothilde Godillot Maella Severino-Freire Vincent Michaud Franck Boralevi Christine Labrèze Vincent Guigonis Giuliana Onnis Fanny Morice-Picard Juliette Mazereeuw-Hautier

Acta Derm Venereol 2019 09;99(10):921-922

Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, 31000 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-3218DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Authors:
Caroline Schluth-Bolard Flavie Diguet Nicolas Chatron Pierre-Antoine Rollat-Farnier Claire Bardel Alexandra Afenjar Florence Amblard Jeanne Amiel Sophie Blesson Patrick Callier Yline Capri Patrick Collignon Marie-Pierre Cordier Christine Coubes Benedicte Demeer Annabelle Chaussenot Florence Demurger Françoise Devillard Martine Doco-Fenzy Céline Dupont Jean-Michel Dupont Sophie Dupuis-Girod Laurence Faivre Brigitte Gilbert-Dussardier Anne-Marie Guerrot Marine Houlier Bertrand Isidor Sylvie Jaillard Géraldine Joly-Hélas Valérie Kremer Didier Lacombe Cédric Le Caignec Aziza Lebbar Marine Lebrun Gaetan Lesca James Lespinasse Jonathan Levy Valérie Malan Michele Mathieu-Dramard Julie Masson Alice Masurel-Paulet Cyril Mignot Chantal Missirian Fanny Morice-Picard Sébastien Moutton Gwenaël Nadeau Céline Pebrel-Richard Sylvie Odent Véronique Paquis-Flucklinger Laurent Pasquier Nicole Philip Morgane Plutino Linda Pons Marie-France Portnoï Fabienne Prieur Jacques Puechberty Audrey Putoux Marlène Rio Caroline Rooryck-Thambo Massimiliano Rossi Catherine Sarret Véronique Satre Jean-Pierre Siffroi Marianne Till Renaud Touraine Annick Toutain Jérome Toutain Stéphanie Valence Alain Verloes Sandra Whalen Patrick Edery Anne-Claude Tabet Damien Sanlaville

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Authors:
Paul Bonnemason-Carrere Fanny Morice-Picard Perrine Pennamen Benoit Arveiler Patricia Fergelot Cyril Goizet Mélanie Hellegouarch Didier Lacombe Claudio Plaisant Virginie Raclet Caroline Rooryck Eulalie Lasseaux Aurélien Trimouille

Am J Med Genet A 2019 Jun 23;179(6):1030-1033. Epub 2019 Mar 23.

Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61127
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http://dx.doi.org/10.1002/ajmg.a.61127DOI Listing
June 2019

Isolated straight hair nevus in a White child.

Authors:
Lucie Rault Fanny Morice-Picard Isabelle Svahn Etienne Gontier Alexia Eyraud Alain Taïeb

Pediatr Dermatol 2019 Mar 21;36(2):260-261. Epub 2019 Feb 21.

Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, INSERM U 1035, University of Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pde.13740DOI Listing
March 2019

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses.

Authors:
Zeinab Kasraian Sandra Trompezinski Muriel Cario-André Fanny Morice-Picard Cécile Ged Marie-Laure Jullie Alain Taieb Hamid Reza Rezvani

Pigment Cell Melanoma Res 2019 01 13;32(1):25-40. Epub 2018 Jul 13.

Univ. Bordeaux, Inserm, BMGIC, UMR 1035, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12720DOI Listing
January 2019

Burden of albinism: development and validation of a burden assessment tool.

Authors:
Fanny Morice-Picard Charles Taïeb Aurelie Marti Antoine Gliksohn Mohammed Bennani Christine Bodemer Khaled Ezzedine

Orphanet J Rare Dis 2018 09 18;13(1):162. Epub 2018 Sep 18.

EA EpiDermE, UPE-Université Paris-Est, Créteil, France.

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http://dx.doi.org/10.1186/s13023-018-0894-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145119PMC
September 2018

Molecular characterization of a series of 990 index patients with albinism.

Authors:
Eulalie Lasseaux Claudio Plaisant Vincent Michaud Perrine Pennamen Aurelien Trimouille Laetitia Gaston Solène Monfermé Didier Lacombe Caroline Rooryck Fanny Morice-Picard Benoît Arveiler

Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12688DOI Listing
July 2018

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Authors:
Sophie Geoffron Walid Abi Habib Sandra Chantot-Bastaraud Béatrice Dubern Virginie Steunou Salah Azzi Alexandra Afenjar Tiffanny Busa Ana Pinheiro Canton Christel Chalouhi Marie-Noëlle Dufourg Blandine Esteva Mélanie Fradin David Geneviève Solveig Heide Bertrand Isidor Agnès Linglart Fanny Morice Picard Catherine Naud-Saudreau Isabelle Oliver Petit Nicole Philip Catherine Pienkowski Marlène Rio Sylvie Rossignol Maithé Tauber Julien Thevenon Thuy-Ai Vu-Hong Madeleine D Harbison Jennifer Salem Frédéric Brioude Irène Netchine Eloïse Giabicani

J Clin Endocrinol Metab 2018 07;103(7):2436-2446

Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Assistance Publique - Hôpitaux de Paris (APHP), Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

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http://dx.doi.org/10.1210/jc.2017-02152DOI Listing
July 2018

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Authors:
Aurélie Marti Eulalie Lasseaux Khaled Ezzedine Christine Léauté-Labrèze Franck Boralevi Clément Paya Valentine Coste Vincent Deroissart Benoit Arveiler Alain Taieb Fanny Morice-Picard

Pigment Cell Melanoma Res 2018 03 21;31(2):318-329. Epub 2017 Oct 21.

Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12651DOI Listing
March 2018

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Authors:
Beom Hee Lee Fanny Morice-Picard Franck Boralevi Brenden Chen Robert J Desnick

J Hum Genet 2018 Mar 20;63(3):257-261. Epub 2017 Dec 20.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s10038-017-0375-x
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http://dx.doi.org/10.1038/s10038-017-0375-xDOI Listing
March 2018

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Authors:
Elodie Bal Hyun-Sook Park Zakia Belaid-Choucair Hülya Kayserili Magali Naville Marine Madrange Elena Chiticariu Smail Hadj-Rabia Nicolas Cagnard Francois Kuonen Daniel Bachmann Marcel Huber Cindy Le Gall Francine Côté Sylvain Hanein Rasim Özgür Rosti Ayca Dilruba Aslanger Quinten Waisfisz Christine Bodemer Olivier Hermine Fanny Morice-Picard Bruno Labeille Frédéric Caux Juliette Mazereeuw-Hautier Nicole Philip Nicolas Levy Alain Taieb Marie-Françoise Avril Denis J Headon Gabor Gyapay Thierry Magnaldo Sylvie Fraitag Hugues Roest Crollius Pierre Vabres Daniel Hohl Arnold Munnich Asma Smahi

Nat Med 2017 Oct 4;23(10):1226-1233. Epub 2017 Sep 4.

Paris Descartes University, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1038/nm.4368DOI Listing
October 2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Authors:
Paul Kuentz Judith St-Onge Yannis Duffourd Jean-Benoît Courcet Virginie Carmignac Thibaud Jouan Arthur Sorlin Claire Abasq-Thomas Juliette Albuisson Jeanne Amiel Daniel Amram Stéphanie Arpin Tania Attie-Bitach Nadia Bahi-Buisson Sébastien Barbarot Geneviève Baujat Didier Bessis Olivia Boccara Maryse Bonnière Odile Boute Anne-Claire Bursztejn Christine Chiaverini Valérie Cormier-Daire Christine Coubes Bruno Delobel Patrick Edery Salima El Chehadeh Christine Francannet David Geneviève Alice Goldenberg Damien Haye Bertrand Isidor Marie-Line Jacquemont Philippe Khau Van Kien Didier Lacombe Ludovic Martin Jelena Martinovic Annabel Maruani Michèle Mathieu-Dramard Juliette Mazereeuw-Hautier Caroline Michot Cyril Mignot Juliette Miquel Fanny Morice-Picard Florence Petit Alice Phan Massimiliano Rossi Renaud Touraine Alain Verloes Marie Vincent Catherine Vincent-Delorme Sandra Whalen Marjolaine Willems Nathalie Marle Daphné Lehalle Julien Thevenon Christel Thauvin-Robinet Smaïl Hadj-Rabia Laurence Faivre Pierre Vabres Jean-Baptiste Rivière

Genet Med 2017 09 2;19(9):989-997. Epub 2017 Feb 2.

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/gim.2016.220DOI Listing
September 2017

[Clinical and genetic aspects of albinism].

Authors:
Benoit Arveiler Eulalie Lasseaux Fanny Morice-Picard

Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.

CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.

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https://linkinghub.elsevier.com/retrieve/pii/S07554982173025
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http://dx.doi.org/10.1016/j.lpm.2017.05.020DOI Listing
September 2017

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Authors:
Vincent Michaud Eulalie Lasseaux Claudio Plaisant Alain Verloes Yaumara Perdomo-Trujillo Christian Hamel Nursel H Elcioglu Bart Leroy Josseline Kaplan Pierre-Simon Jouk Didier Lacombe Patricia Fergelot Fanny Morice-Picard Benoit Arveiler

Pigment Cell Melanoma Res 2017 Jan 20;30(6):563-570. Epub 2017 Oct 20.

Service Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12608DOI Listing
January 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Authors:
Marguerite Miguet Julien Thevenon Vincent Laugel Mathilde Lefebvre Aurélie Bourchany Jean-Baptiste Rivière Yannis Duffourd Elise Schaefer Maria Cristina Antal Rosalie Abida Anne-Sophie Weingertner Valérie Kremer Pierre Vabres Fanny Morice-Picard Marie Gonzales Dan Lipsker Sylvie Fraitag Jean-Louis Mandel Jamel Chelly Hélène Dollfus Laurence Faivre Christel Thauvin-Robinet Nadège Calmels Salima El Chehadeh

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Authors:
Sophie Nambot Alice Masurel Salima El Chehadeh Anne-Laure Mosca-Boidron Christel Thauvin-Robinet Mathilde Lefebvre Nathalie Marle Julien Thevenon Stéphanie Perez-Martin Véronique Dulieu Frédéric Huet Ghislaine Plessis Joris Andrieux Pierre-Simon Jouk Gipsy Billy-Lopez Charles Coutton Fanny Morice-Picard Marie-Ange Delrue Delphine Heron Caroline Rooryck Alice Goldenberg Pascale Saugier-Veber Géraldine Joly-Hélas Patricia Calenda Paul Kuentz Sylvie Manouvrier-Hanu Sophie Dupuis-Girod Patrick Callier Laurence Faivre

Eur J Hum Genet 2016 06 23;24(6):830-7. Epub 2015 Sep 23.

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

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http://dx.doi.org/10.1038/ejhg.2015.202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867444PMC
June 2016

Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation.

Authors:
Emeline Laborel-Préneron Pascale Bianchi Franck Boralevi Philippe Lehours Frédérique Fraysse Fanny Morice-Picard Motoyuki Sugai Yusuke Sato'o Cédric Badiou Gérard Lina Anne-Marie Schmitt Daniel Redoulès Christiane Casas Christian Davrinche

PLoS One 2015 28;10(10):e0141067. Epub 2015 Oct 28.

INSERM UMR 1043, CNRS UMR 5282, Université Toulouse III Paul Sabatier, Toulouse, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0141067PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624846PMC
June 2016

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Authors:
Claire Maridet Guilhem Sole Fanny Morice-Picard Alain Taieb

Am J Med Genet A 2016 06 7;170(6):1570-2. Epub 2016 Mar 7.

Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.37601DOI Listing
June 2016

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Authors:
Alrun Hotz Vinzenz Oji Emmanuelle Bourrat Nathalie Jonca Juliette Mazereeuw-Hautier Regina C Betz Ulrike Blume-Peytavi Karola Stieler Fanny Morice-Picard Ines Schönbuchner Susanne Markus Nina Schlipf Judith Fischer

Acta Derm Venereol 2016 May;96(4):473-8

Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-2299DOI Listing
May 2016

Correction: Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation.

Authors:
Emeline Laborel-Préneron Pascale Bianchi Franck Boralevi Philippe Lehours Frédérique Fraysse Fanny Morice-Picard Motoyuki Sugai Yusuke Sato'o Cédric Badiou Gérard Lina Anne-Marie Schmitt Daniel Redoulès Christiane Casas Christian Davrinche

PLoS One 2015 30;10(11):e0144323. Epub 2015 Nov 30.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0144323PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664274PMC
March 2016

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

Authors:
Yveline Hamon Monika Legowska Patricia Fergelot Sandrine Dallet-Choisy Louise Newell Lise Vanderlynden Ali Kord Valeshabad Karina Acrich Hadi Kord Tsamakis Charalampos Fanny Morice-Picard Ian Surplice Jerome Zoidakis Karen David Antonia Vlahou Shivanna Ragunatha Nikoletta Nagy Katalin Farkas Márta Széll Cyril Goizet Beate Schacher Maurizio Battino Abdullah Al Farraj Aldosari Xinwen Wang Yang Liu Sylvain Marchand-Adam Adam Lesner Elodie Kara Sevil Korkmaz-Icöz Celia Moss Peter Eickholz Alain Taieb Salih Kavukcu Dieter E Jenne Francis Gauthier Brice Korkmaz

FEBS J 2016 Feb 4;283(3):498-509. Epub 2016 Jan 4.

INSERM U-1100 "Centre d'Etude des Pathologies Respiratoires", Tours, France.

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http://dx.doi.org/10.1111/febs.13605DOI Listing
February 2016

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Authors:
Fanny Morice-Picard Eulalie Lasseaux Claudio Plaisant Dorothée Cailley Julie Bouron Caroline Rooryck Didier Lacombe Valérie Pelletier Dan Lipsker Yaumara Perdomo-Trujillo Hélène Dollfus Benoit Arveiler

Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.

Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12408DOI Listing
January 2016

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

Authors:
Antoine Bertolotti Eulalie Lasseaux Claudio Plaisant Aurelien Trimouille Fanny Morice-Picard Caroline Rooryck Didier Lacombe Pierre Couppie Benoît Arveiler

Pigment Cell Melanoma Res 2016 Jan 3;29(1):104-6. Epub 2015 Nov 3.

Genetics, University Hospital Center, Bordeaux, France.

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http://doi.wiley.com/10.1111/pcmr.12425
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http://dx.doi.org/10.1111/pcmr.12425DOI Listing
January 2016

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Authors:
Fanny Morice-Picard Giovanni Benard Hamid R Rezvani Eulalie Lasseaux Delphine Simon Sébastien Moutton Caroline Rooryck Didier Lacombe Clarisse Baumann Benoit Arveiler

Eur J Hum Genet 2016 01 19;25(1):52-58. Epub 2016 Oct 19.

Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.

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http://dx.doi.org/10.1038/ejhg.2016.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159772PMC
January 2016

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Authors:
Marie Coutelier Cyril Goizet Alexandra Durr Florence Habarou Sara Morais Alexandre Dionne-Laporte Feifei Tao Juliette Konop Marion Stoll Perrine Charles Maxime Jacoupy Raphaël Matusiak Isabel Alonso Chantal Tallaksen Mathilde Mairey Marina Kennerson Marion Gaussen Rebecca Schule Maxime Janin Fanny Morice-Picard Christelle M Durand Christel Depienne Patrick Calvas Paula Coutinho Jean-Marie Saudubray Guy Rouleau Alexis Brice Garth Nicholson Frédéric Darios José L Loureiro Stephan Zuchner Chris Ottolenghi Fanny Mochel Giovanni Stevanin

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Novel KRT83 and KRT86 mutations associated with monilethrix.

Authors:
Maurice van Steensel Maaike Vreeburg Maria T Urbina Paul López Fanny Morice-Picard Michel van Geel

Exp Dermatol 2015 Mar;24(3):222-4

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.

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http://dx.doi.org/10.1111/exd.12624DOI Listing
March 2015

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Authors:
Fanny Morice-Picard Khaled Ezzedine Marie-Ange Delrue Benoit Arveiler Patricia Fergelot Alain Taïeb Didier Lacombe Franck Boralevi

Pediatr Dermatol 2013 Nov-Dec;30(6):665-73

Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France; Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France.

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http://doi.wiley.com/10.1111/pde.12171
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http://dx.doi.org/10.1111/pde.12171DOI Listing
August 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Authors:
Fanny Morice-Picard Eulalie Lasseaux Stéphane François Delphine Simon Caroline Rooryck Eric Bieth Estelle Colin Dominique Bonneau Hubert Journel Sophie Walraedt Bart P Leroy Francoise Meire Didier Lacombe Benoit Arveiler

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

Increasing the complexity: new genes and new types of albinism.

Authors:
Lluís Montoliu Karen Grønskov Ai-Hua Wei Mónica Martínez-García Almudena Fernández Benoît Arveiler Fanny Morice-Picard Saima Riazuddin Tamio Suzuki Zubair M Ahmed Thomas Rosenberg Wei Li

Pigment Cell Melanoma Res 2014 Jan 17;27(1):11-8. Epub 2013 Oct 17.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.

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http://doi.wiley.com/10.1111/pcmr.12167
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January 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Authors:
Fanny Morice-Picard Eulalie Lasseaux Dorothée Cailley Audrey Gros Jérome Toutain Claudio Plaisant Delphine Simon Stéphane François Brigitte Gilbert-Dussardier Josseline Kaplan Caroline Rooryck Didier Lacombe Benoit Arveiler

Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12173DOI Listing
January 2014

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Authors:
Dagmar Wieczorek Nina Bögershausen Filippo Beleggia Sabine Steiner-Haldenstätt Esther Pohl Yun Li Esther Milz Marcel Martin Holger Thiele Janine Altmüller Yasemin Alanay Hülya Kayserili Ludger Klein-Hitpass Stefan Böhringer Andreas Wollstein Beate Albrecht Koray Boduroglu Almuth Caliebe Krystyna Chrzanowska Ozgur Cogulu Francesca Cristofoli Johanna Christina Czeschik Koenraad Devriendt Maria Teresa Dotti Nursel Elcioglu Blanca Gener Timm O Goecke Malgorzata Krajewska-Walasek Encarnación Guillén-Navarro Joussef Hayek Gunnar Houge Esra Kilic Pelin Özlem Simsek-Kiper Vanesa López-González Alma Kuechler Stanislas Lyonnet Francesca Mari Annabella Marozza Michèle Mathieu Dramard Barbara Mikat Gilles Morin Fanny Morice-Picard Ferda Ozkinay Anita Rauch Alessandra Renieri Sigrid Tinschert G Eda Utine Catheline Vilain Rossella Vivarelli Christiane Zweier Peter Nürnberg Sven Rahmann Joris Vermeesch Hermann-Josef Lüdecke Michael Zeschnigk Bernd Wollnik

Hum Mol Genet 2013 Dec 1;22(25):5121-35. Epub 2013 Aug 1.

Institut für Humangenetik and.

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http://dx.doi.org/10.1093/hmg/ddt366DOI Listing
December 2013

Cole Disease Results from Mutations in ENPP1.

Authors:
Ori Eytan Fanny Morice-Picard Ofer Sarig Khaled Ezzedine Ofer Isakov Qiaoli Li Akemi Ishida-Yamamoto Noam Shomron Tomer Goldsmith Dana Fuchs-Telem Noam Adir Jouni Uitto Seth J Orlow Alain Taieb Eli Sprecher

Am J Hum Genet 2013 Oct 26;93(4):752-7. Epub 2013 Sep 26.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2013.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791268PMC
October 2013

Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo.

Authors:
Abou Diallo Katia Boniface Thomas Jouary Julien Seneschal Fanny Morice-Picard Sorilla Prey Muriel Cario-André Juliette Mazereeuw-Hautier Alain Taieb Khaled Ezzedine

Pigment Cell Melanoma Res 2013 May 30;26(3):402-7. Epub 2013 Jan 30.

Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hôpital Pellegrin, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12065DOI Listing
May 2013

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Authors:
Jeroen K J Van Houdt Beata Anna Nowakowska Sérgio B Sousa Barbera D C van Schaik Eve Seuntjens Nelson Avonce Alejandro Sifrim Omar A Abdul-Rahman Marie-José H van den Boogaard Armand Bottani Marco Castori Valérie Cormier-Daire Matthew A Deardorff Isabel Filges Alan Fryer Jean-Pierre Fryns Simone Gana Livia Garavelli Gabriele Gillessen-Kaesbach Bryan D Hall Denise Horn Danny Huylebroeck Jakub Klapecki Malgorzata Krajewska-Walasek Alma Kuechler Matthew A Lines Saskia Maas Kay D Macdermot Shane McKee Alex Magee Stella A de Man Yves Moreau Fanny Morice-Picard Ewa Obersztyn Jacek Pilch Elizabeth Rosser Nora Shannon Irene Stolte-Dijkstra Patrick Van Dijck Catheline Vilain Annick Vogels Emma Wakeling Dagmar Wieczorek Louise Wilson Orsetta Zuffardi Antoine H C van Kampen Koenraad Devriendt Raoul Hennekam Joris Robert Vermeesch

Nat Genet 2012 Feb 26;44(4):445-9, S1. Epub 2012 Feb 26.

Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1038/ng.1105DOI Listing
February 2012

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Authors:
Cyril Mignot Marie-Laure Moutard Oriane Trouillard Isabelle Gourfinkel-An Aurélia Jacquette Benoit Arveiler Fanny Morice-Picard Didier Lacombe Catherine Chiron Dorothée Ville Perrine Charles Eric LeGuern Christel Depienne Delphine Héron

Epilepsia 2011 Oct 18;52(10):1820-7. Epub 2011 Jul 18.

Clinical Genetic Unit Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03163.xDOI Listing
October 2011

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Authors:
Jérôme Toutain Laurence Taine Fanny Morice-Picard Houria Hallal Zong-Qi Dai Benoît Arveiler Didier Lacombe Jacques Horovitz Robert Saura

Eur J Med Genet 2011 May-Jun;54(3):292-4. Epub 2011 Jan 5.

Laboratoire de Cytogénétique, Service de Génétique Médicale, Hôpital Pellegrin (Maternité), CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.005DOI Listing
September 2011

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Authors:
Fanny Morice-Picard Elise Kostrzewa Claude Wolf Pascale Benlian Alain Taïeb Didier Lacombe

Arch Dermatol 2011 Sep;147(9):1073-6

Service de Génétique Médicale, Université de Bordeaux 2, Centre Hôpitalier Universitaire de Bordeaux, Bordeaux, France.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archdermatol.2011.230DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Identification of a complex 17q rearrangement in a metanephric stromal tumor.

Authors:
Jérôme Toutain Yen VuPhi Martine Doco-Fenzy Fanny Morice-Picard Sophie Stanislas Elodie Laharanne Dorothée Cailley Pierre Vergnes Yves Perel Liliane Boccon-Gibod Colette Deminiere Laurence Taine

Cancer Genet 2011 Jun;204(6):340-3

Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.cancergen.2011.05.003DOI Listing
June 2011

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

Authors:
Caroline Rooryck Fanny Morice-Picard Eulalie Lasseaux Dorothée Cailley Hélène Dollfus Sabine Defoort-Dhellemme Bénédicte Duban-Bedu Thomy J L de Ravel Alain Taieb Didier Lacombe Benoît Arveiler

Hum Genet 2011 Feb 18;129(2):199-208. Epub 2010 Nov 18.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux, France.

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http://link.springer.com/10.1007/s00439-010-0913-5
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February 2011

Brachydactyly type A1 with short humerus and associated skeletal features.

Authors:
Didier Lacombe Marie-Ange Delrue Caroline Rooryck Fanny Morice-Picard Benoît Arveiler Brigitte Maugey-Laulom Stefan Mundlos Annick Toutain Jean-François Chateil

Am J Med Genet A 2010 Dec;152A(12):3016-21

Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.33761DOI Listing
December 2010

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:
Vinzenz Oji Gianluca Tadini Masashi Akiyama Claudine Blanchet Bardon Christine Bodemer Emmanuelle Bourrat Philippe Coudiere John J DiGiovanna Peter Elias Judith Fischer Philip Fleckman Michal Gina John Harper Takashi Hashimoto Ingrid Hausser Hans Christian Hennies Daniel Hohl Alain Hovnanian Akemi Ishida-Yamamoto Witold K Jacyk Sancy Leachman Irene Leigh Juliette Mazereeuw-Hautier Leonard Milstone Fanny Morice-Picard Amy S Paller Gabriele Richard Matthias Schmuth Hiroshi Shimizu Eli Sprecher Maurice Van Steensel Alain Taïeb Jorge R Toro Pierre Vabres Anders Vahlquist Mary Williams Heiko Traupe

J Am Acad Dermatol 2010 Oct;63(4):607-41

Department of Dermatology, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1016/j.jaad.2009.11.020DOI Listing
October 2010

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis.

Authors:
Fanny Morice-Picard Christine Léauté-Labrèze Aude Décor Franck Boralevi Didier Lacombe Alain Taieb Judith Fischer

Am J Med Genet A 2010 Oct;152A(10):2664-5

National Reference Centre for Rare Skin Disorders, INSERM U876, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.33648DOI Listing
October 2010

In this issue: Comments on the proposed term pleomorphic ichthyosis.

Authors:
Alain Taïeb Fanny Morice-Picard

Acta Derm Venereol 2010 Sep;90(5):450-3

National Reference Centre for Rare Skin Disorders, Hôpital Pellegrin-Enfants, CHU de Bordeaux, France.

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http://dx.doi.org/10.2340/00015555-0941DOI Listing
September 2010

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.

Authors:
Akio Tanaka Fanny Morice-Picard Didier Lacombe Nikoletta Nagy Michihiro Hide Alain Taïeb John McGrath

Am J Med Genet A 2010 Jun;152A(6):1347-8

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33455
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http://dx.doi.org/10.1002/ajmg.a.33455DOI Listing
June 2010

Cutaneous epidermal cysts as a presentation of gorlin syndrome.

Authors:
Fanny Morice-Picard Nicolas Sévenet Francoise Bonnet Thomas Jouary Didier Lacombe Alain Taieb

Arch Dermatol 2009 Nov;145(11):1341-3

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http://dx.doi.org/10.1001/archdermatol.2009.274DOI Listing
November 2009

New clinico-genetic classification of trichothiodystrophy.

Authors:
Fanny Morice-Picard Muriel Cario-André Hamid Rezvani Didier Lacombe Alain Sarasin Alain Taïeb

Am J Med Genet A 2009 Sep;149A(9):2020-30

Department of Pediatric Dermatology, National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.32902DOI Listing
September 2009

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Authors:
Sérgio B Sousa Omar A Abdul-Rahman Armand Bottani Valérie Cormier-Daire Alan Fryer Gabriele Gillessen-Kaesbach Denise Horn Dragana Josifova Alma Kuechler Melissa Lees Kay MacDermot Alex Magee Fanny Morice-Picard Elizabeth Rosser Ajoy Sarkar Nora Shannon Irene Stolte-Dijkstra Alain Verloes Emma Wakeling Louise Wilson Raoul C M Hennekam

Am J Med Genet A 2009 Aug;149A(8):1628-40

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32956DOI Listing
August 2009

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Authors:
Fanny Morice-Picard Sandrine Marlin Caroline Rooryck Mickael Fayon Jeao-Benoît Thambo Jean-Louis Demarquez Brigitte Fauroux Francoise Denoyelle Didier Lacombe

Clin Dysmorphol 2009 Apr;18(2):116-9

Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e32831da7abDOI Listing
April 2009

Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo.

Authors:
Alain Taïeb Fanny Morice-Picard Thomas Jouary Khaled Ezzedine Muriel Cario-André Yvon Gauthier

Pigment Cell Melanoma Res 2008 Dec 28;21(6):646-52. Epub 2008 Oct 28.

Service de Dermatologie et Dermatologie Pédiatrique, Centre de Référence des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/j.1755-148X.2008.00511.xDOI Listing
December 2008

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

Authors:
Rahima Mostefai Fanny Morice-Picard Franck Boralevi Michel Sautarel Didier Lacombe Marie José Stasia John McGrath Alain Taïeb

Am J Med Genet A 2008 Nov;146A(21):2762-9

Department of Pediatric Dermatology (National Reference Center for Rare Skin Disorders), Pellegrin University Hospitals, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.32524DOI Listing
November 2008

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Authors:
Caroline Rooryck Fanny Morice-Picard Nursel H Elçioglu Didier Lacombe Alain Taieb Benoît Arveiler

Pigment Cell Melanoma Res 2008 Oct;21(5):583-7

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http://dx.doi.org/10.1111/j.1755-148X.2008.00496.xDOI Listing
October 2008

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Authors:
Carine Le Goff Fanny Morice-Picard Nathalie Dagoneau Lauren W Wang Claire Perrot Yanick J Crow Florence Bauer Elisabeth Flori Catherine Prost-Squarcioni Deborah Krakow Gaoxiang Ge Daniel S Greenspan Damien Bonnet Martine Le Merrer Arnold Munnich Suneel S Apte Valérie Cormier-Daire

Nat Genet 2008 Sep;40(9):1119-23

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France.

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http://dx.doi.org/10.1038/ng.199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675613PMC
September 2008