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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57Publications

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

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.

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

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

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.

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

Isolated straight hair nevus in a White child.

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.

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

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

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

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

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.

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

[Clinical and genetic aspects of albinism].

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

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

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

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

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

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

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

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

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.

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.

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.

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.

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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http://dx.doi.org/10.1111/pcmr.12167DOI Listing
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.

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

Cole Disease Results from Mutations in ENPP1.

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.

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

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

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.

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

Brachydactyly type A1 with short humerus and associated skeletal features.

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

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

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.

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

New clinico-genetic classification of trichothiodystrophy.

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

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

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.

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.

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