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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.
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-c …
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 ( …
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, Piard J, Morice-Picard F, Aubert H, Bessis D, Guerrot AM, Maruani A, Boccara O, Mazereeuw-Hautier J, Ott H, Phan A, Puzenat E, Quelin C, Thauvin-Robinet C, Faivre L, Vabres P. Kuentz P, et al. Among authors: morice picard f. Br J Dermatol. 2024 Apr 16:ljae167. doi: 10.1093/bjd/ljae167. Online ahead of print. Br J Dermatol. 2024. PMID: 38623710 No abstract available.
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: morice picard f. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
French national protocol for the management of congenital ichthyosis.
Severino-Freire M, Granier Tournier C, Chiaverini C, Audouze A, Morice-Picard F, Texier H, Dreyfus I, Bing-Lecointe AC, Mallet S, Bodemer C, Fischer J, Jonca N, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group. Severino-Freire M, et al. Among authors: morice picard f. Ann Dermatol Venereol. 2024 Mar;151(1):103247. doi: 10.1016/j.annder.2024.103247. Epub 2024 Mar 20. Ann Dermatol Venereol. 2024. PMID: 38513308
Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.
Kgokolo M, Morice-Picard F, Rezvani HR, Austerlitz F, Cartault F, Sarasin A, Sathekge M, Taieb A, Ged C. Kgokolo M, et al. Among authors: morice picard f. Br J Dermatol. 2019 Nov;181(5):1070-1072. doi: 10.1111/bjd.18030. Epub 2019 Jul 24. Br J Dermatol. 2019. PMID: 31017654 No abstract available.
Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246.
Aberdam E, Roux LN, Secrétan PH, Boralevi F, Schlatter J, Morice-Picard F, Sol S, Bodemer C, Missero C, Cisternino S, Aberdam D, Hadj-Rabia S. Aberdam E, et al. Among authors: morice picard f. Cell Death Dis. 2020 Jan 16;11(1):30. doi: 10.1038/s41419-020-2223-8. Cell Death Dis. 2020. PMID: 31949132 Free PMC article.
Here, we established primary epidermal culture from two AEC children (S.F. and Y.M.) suffering from persistent skin erosions at age of 9 and 15, respectively. ...
Here, we established primary epidermal culture from two AEC children (S.F. and Y.M.) suffering from persistent skin erosions at age o …
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P. Benyelles M, et al. Among authors: morice picard f. Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. Hum Mol Genet. 2020. PMID: 31985013
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.
Luu M, Vabres P, Devilliers H, Loffroy R, Phan A, Martin L, Morice-Picard F, Petit F, Willems M, Bessis D, Jacquemont ML, Maruani A, Chiaverini C, Mirault T, Clayton-Smith J, Carpentier M, Fleck C, Maurer A, Yousfi M, Parker VER, Semple RK, Bardou M, Faivre L. Luu M, et al. Among authors: morice picard f. Genet Med. 2021 Dec;23(12):2433-2442. doi: 10.1038/s41436-021-01290-y. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385668 Free PMC article. Clinical Trial.
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