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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 4
2009 4
2010 7
2011 7
2012 3
2013 8
2014 5
2015 7
2016 10
2017 9
2018 12
2019 15
2020 16
2021 11
2022 3
2023 12
2024 5

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118 results

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Page 1
Molecular characterization of a series of 990 index patients with albinism.
Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B. Lasseaux E, et al. Among authors: morice picard f. Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. doi: 10.1111/pcmr.12688. Epub 2018 Feb 14. Pigment Cell Melanoma Res. 2018. PMID: 29345414
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: morice picard f. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
[Genetics and dermatology].
Morice-Picard F. Morice-Picard F. Ann Dermatol Venereol. 2019 Apr;146(4):326-339. doi: 10.1016/j.annder.2019.02.009. Epub 2019 Apr 18. Ann Dermatol Venereol. 2019. PMID: 31006539 French.
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI. Yurchenko AA, et al. Among authors: morice picard f. Nat Commun. 2023 May 4;14(1):2561. doi: 10.1038/s41467-023-38311-0. Nat Commun. 2023. PMID: 37142601 Free PMC article.
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E, Morice-Picard F, Lasseaux E, Robert MP, Coste V, Michaud V, Leclerc-Mercier S, Bremond-Gignac D, Arveiler B, Hadj-Rabia S. Moreno-Artero E, et al. Among authors: morice picard f. Genes (Basel). 2022 Nov 23;13(12):2198. doi: 10.3390/genes13122198. Genes (Basel). 2022. PMID: 36553465 Free PMC article.
SCN10A variants associated with congenital harlequin syndrome.
Halle A, De Becdelievre A, Funalot B, Labrèze C, Morice-Picard F, Boralevi F. Halle A, et al. Among authors: morice picard f. Br J Dermatol. 2022 Jun;186(6):1039-1041. doi: 10.1111/bjd.21011. Epub 2022 Mar 22. Br J Dermatol. 2022. PMID: 35007332 No abstract available.
New clinico-genetic classification of trichothiodystrophy.
Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A. Morice-Picard F, et al. Am J Med Genet A. 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. Am J Med Genet A. 2009. PMID: 19681155 Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Increasing the complexity: new genes and new types of albinism.
Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Among authors: morice picard f. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.
118 results