F. Morice-Picard

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Brachydactyly type A1 with short humerus and associated skeletal features

S. Mundlos, A. Toutain, C. Rooryck, 2010, American journal of medical genetics. Part A.

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.

I. Lamrissi‐Garcia, M. Lalanne, C. Ged, 2020, Blood.

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

A. Munnich, Y. Crow, D. Krakow, 2008, Nature Genetics.

Analysis of urinary cathepsin C for diagnosing Papillon – Lef (cid:1) evre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016 .

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

F. Bérard, C. Chiaverini, Jean Kanitakis, 2018, The British journal of dermatology.

Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment Epidermolysis bullosa simplex generalized severe is an inflammatory disease

F. Bérard, C. Chiaverini, Jean Kanitakis, 2018 .

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

S. Markus, J. Fischer, R. Betz, 2016, Acta dermato-venereologica.

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

T. Jouary, M. Cario-André, A. Taïeb, 2008, Pigment cell & melanoma research.

Novel KRT83 and KRT86 mutations associated with monilethrix

M. Geel, M. Vreeburg, M. Steensel, 2015, Experimental dermatology.

Vitiligo, Associated Disorders and Comorbidities (Autoimmune-Inflammatory Disorders, Immunodeficiencies, Rare Monogenic Diseases)

A. Taïeb, J. Seneschal, F. Morice-Picard, 2019, Vitiligo.

Rare Inherited Diseases and Vitiligo

A. Taïeb, F. Morice-Picard, 2010 .

Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA Repair

Ismael Padioleau, C. Menck, Pierre Laplante, 2022, bioRxiv.

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

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

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

J. McGrath, D. Lacombe, F. Boralevi, 2008, American journal of medical genetics. Part A.

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

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

[Genetics and dermatology].

F. Morice-Picard, 2019, Annales de dermatologie et de venereologie.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

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

C. Chiaverini, C. Philippe, S. Hadj-Rabia, 2019, The Journal of investigative dermatology.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

O. Letertre, M. Cario-André, E. Lasseaux, 2020, Clinical and experimental dermatology.

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

F. Boralevi, J. Mazereeuw-Hautier, V. Guigonis, 2019, Acta Dermato-Venereologica.

Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism

F. Boralevi, M. Cario-André, J. Mazereeuw-Hautier, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Cutaneous epidermal cysts as a presentation of gorlin syndrome.

N. Sevenet, T. Jouary, D. Lacombe, 2009, Archives of dermatology.

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

C. Bodemer, M. Akiyama, H. Shimizu, 2010, Journal of the American Academy of Dermatology.

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

J. Toutain, L. Taine, M. Doco‐Fenzy, 2011, Cancer genetics.

Mosaic NRASopathy in a child with giant melanocytic congenital naevus, epidermal hamartoma and bilateral nephroblastomatosis: clinical implication for follow‐up

A. Gros, A. Taïeb, A. Fouchardière, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

High‐dose pulsed corticosteroid therapy combined with methotrexate for severe alopecia areata of childhood

F. Boralevi, A. Taïeb, A. Dutkiewicz, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246

C. Bodemer, C. Missero, E. Aberdam, 2020, Cell Death & Disease.

Management of albinism: French guidelines for diagnosis and care

S. Hadj-Rabia, B. Arveiler, A. Taieb, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

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

T. Jouary, S. Prey, M. Cario-André, 2013, Pigment cell & melanoma research.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Increasing the complexity: new genes and new types of albinism

Wei Li, T. Rosenberg, S. Riazuddin, 2014, Pigment cell & melanoma research.

Diagnosis of some common and uncommon hyperpigmentation disorders in children

F. Morice‐Picard, A. Taïeb, K. Ezzedine, 2014 .

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses

C. Ged, M. Cario-André, H. Rezvani, 2018, Pigment cell & melanoma research.

Cole Disease Results from Mutations in ENPP1.

O. Sarig, N. Shomron, J. Uitto, 2013, American journal of human genetics.

Development and co-construction of a therapeutic patient education program for albinism.

C. Bodemer, S. Hadj-Rabia, S. Compain, 2021, Annales de dermatologie et de venereologie.

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

C. Rooryck, D. Lacombe, B. Arveiler, 2008, Pigment cell & melanoma research.

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

C. Rooryck, D. Lacombe, P. Couppié, 2016, Pigment cell & melanoma research.

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

B. Gilbert-Dussardier, J. Toutain, C. Rooryck, 2014, Pigment cell & melanoma research.

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

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

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

P. Fergelot, P. Jouk, A. Verloes, 2017, Pigment cell & melanoma research.

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

V. Gaston, J. Mazereeuw-Hautier, H. Aubert, 2019, Acta dermato-venereologica.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

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

G. Gyapay, A. Smahi, C. Bodemer, 2017, Nature Medicine.

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

D. Caillaud, P. Revy, M. O'Donohue, 2020, Human molecular genetics.

Other RASopathies

F. Morice‐Picard, F. Morice-Picard, 2019, Harper's Textbook of Pediatric Dermatology.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

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

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage

C. Ged, W. Rachidi, M. Fayyad-kazan, 2020, Frontiers in Genetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.

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

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

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

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

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

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation

F. Boralevi, A. Taïeb, J. Mazereeuw-Hautier, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

J. Toutain, D. Lacombe, L. Taine, 2011, European journal of medical genetics.

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

D. Lacombe, C. Wolf, A. Taïeb, 2011, Archives of dermatology.

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

F. Boralevi, E. Lasseaux, B. Arveiler, 2018, Pigment cell & melanoma research.

Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia

C. Ged, A. Taïeb, F. Morice-Picard, 2019, Journal of the European Academy of Dermatology and Venereology : JEADV.

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

S. Hadj-Rabia, E. Lasseaux, B. Arveiler, 2022, Genes.

Category : Melanin Chemistry & Pigmentation ( MCP ) Title : Lessons of a day hospital : comprehensive assessment of patients with albinism in a European setting Running title : Prospective study of albinism

F. Boralevi, E. Lasseaux, B. Arveiler, 2017 .

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

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

J. Clayton-Smith, R. Loffroy, C. Chiaverini, 2021, Genetics in Medicine.

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

D. Lacombe, F. Boralevi, J. Fischer, 2010, American journal of medical genetics. Part A.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

C. Hans, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

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

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp

E. Sprecher, F. Morice‐Picard, A. Taieb, 2011, Clinical and experimental dermatology.

Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review

B. Quintard, Nicolas Calcagni, F. Morice-Picard, 2023, Orphanet Journal of Rare Diseases.

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

C. Ged, J. Blouin, E. Richard, 2021, Molecular genetics and metabolism reports.

Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016, The FEBS journal.

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

C. Ged, H. Rezvani, A. Sarasin, 2019, British Journal of Dermatology.

ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

A. Smahi, D. Hohl, M. Plomann, 2021, Communications Biology.

ARP-T1 is a ciliogenesis protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupré-Christol Syndrome

A. Smahi, D. Hohl, M. Plomann, 2019, bioRxiv.

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

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

P. Fergelot, D. Lacombe, F. Boralevi, 2013, Pediatric dermatology.

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

G. Lina, D. Redoules, F. Boralevi, 2015, PloS one.

Xeroderma pigmentosum: clues to understanding cancer initiation

T. Jouary, C. Ged, F. Mazurier, 2010 .

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

F. Denoyelle, C. Rooryck, D. Lacombe, 2009, Clinical dysmorphology.

New clinico‐genetic classification of trichothiodystrophy

D. Lacombe, M. Cario-André, H. Rezvani, 2009, American journal of medical genetics. Part A.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome

C. Chiaverini, J. Mazereeuw-Hautier, D. Bessis, 2020, Pediatric dermatology.

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

F. Boralevi, F. Morice‐Picard, H. Rezvani, 2019, The Journal of investigative dermatology.

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

R. Desnick, F. Boralevi, Brenden Chen, 2018, Journal of Human Genetics.

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

J. McGrath, D. Lacombe, A. Taïeb, 2010, American journal of medical genetics. Part A.

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma

S. Hadj-Rabia, O. Letertre, C. Labrèze, 2023, Journal of the European Academy of Dermatology and Venereology : JEADV.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

P. Derambure, P. Fergelot, S. Rheims, 2021, Orphanet Journal of Rare Diseases.

Xenopus: An in vivo model for studying skin response to ultraviolet B irradiation

H. Fayyad-kazan, P. Thiébaud, Sandrine Fédou, 2023, Development, growth & differentiation.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

J. Pedespan, C. Goizet, M. Thibaud, 2020, Neuropediatrics.

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

C. Bodemer, M. Bennani, K. Ezzedine, 2018, Orphanet Journal of Rare Diseases.

Severe linear form of granuloma annulare along Blaschko’s lines preceding the onset of a classical form of granuloma annulare in a child

S. Lepreux, D. Lacombe, F. Boralevi, 2007, The British journal of dermatology.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients

Ismael Padioleau, C. Menck, Pierre Laplante, 2023, Nature communications.

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

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

SCN10A variants associated with congenital harlequin syndrome

F. Boralevi, B. Funalot, C. Labrèze, 2022, The British journal of dermatology.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

M. Larsabal, A. Taïeb, C. Caumont, 2018, British Journal of Dermatology.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.

Incontinentia pigmenti in boys: Causes and consequences.

C. Chiaverini, J. Lacour, E. Bourrat, 2020, Annales de dermatologie et de venereologie.

Rare genetic diseases, signalling pathways, and keloid scar formation

D. Lacombe, F. Morice-Picard, 2014, The British journal of dermatology.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Wells syndrome and acquired cutis laxa: An atypical association.

M. Doutre, J. Gibier, A. Trimouille, 2023, The Journal of dermatology.