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Year Number of Results
1993 2
2007 1
2009 1
2017 2
2018 3
2019 5
2020 5
2021 3
2023 5
2024 2

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Page 1
Geleophysic Dysplasia.
Marzin P, Cormier-Daire V. Marzin P, et al. 2009 Sep 22 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Sep 22 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301776 Free Books & Documents. Review.
Weill-Marchesani Syndrome.
Marzin P, Cormier-Daire V, Tsilou E. Marzin P, et al. 2007 Nov 1 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Nov 1 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301293 Free Books & Documents. Review.
New perspectives on the treatment of skeletal dysplasia.
Marzin P, Cormier-Daire V. Marzin P, et al. Ther Adv Endocrinol Metab. 2020 Mar 3;11:2042018820904016. doi: 10.1177/2042018820904016. eCollection 2020. Ther Adv Endocrinol Metab. 2020. PMID: 32166011 Free PMC article. Review.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: marzin p. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460
An intermediate phenotype in IDH related enchondromatosis spectrum.
Yilmaz-Gulec E, Marzin P, Huber-Lequesne C, Cormier-Daire V. Yilmaz-Gulec E, et al. Among authors: marzin p. Eur J Med Genet. 2023 Mar;66(3):104697. doi: 10.1016/j.ejmg.2023.104697. Epub 2023 Jan 14. Eur J Med Genet. 2023. PMID: 36649847
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: marzin p. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: marzin p. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
20 results