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Page 1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: pichot a. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
Prevention of early ventilation-acquired pneumonia (VAP) in comatose brain-injured patients by a single dose of ceftriaxone: PROPHY-VAP study protocol, a multicentre, randomised, double-blind, placebo-controlled trial.
Dahyot-Fizelier C, Frasca D, Lasocki S, Asehnoune K, Balayn D, Guerin AL, Perrigault PF, Geeraerts T, Seguin P, Rozec B, Elaroussi D, Cottenceau V, Guyonnaud C, Mimoz O; PROPHY-VAP Study group, ATLANREA group. Dahyot-Fizelier C, et al. BMJ Open. 2018 Oct 18;8(10):e021488. doi: 10.1136/bmjopen-2018-021488. BMJ Open. 2018. PMID: 30341115 Free PMC article.
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: pichot a. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Platelets favor the outgrowth of established metastases.
Garcia-Leon MJ, Liboni C, Mittelheisser V, Bochler L, Follain G, Mouriaux C, Busnelli I, Larnicol A, Colin F, Peralta M, Osmani N, Gensbittel V, Bourdon C, Samaniego R, Pichot A, Paul N, Molitor A, Carapito R, Jandrot-Perrus M, Lefebvre O, Mangin PH, Goetz JG. Garcia-Leon MJ, et al. Among authors: pichot a. Nat Commun. 2024 May 13;15(1):3297. doi: 10.1038/s41467-024-47516-w. Nat Commun. 2024. PMID: 38740748 Free PMC article.
The MHC class I MICA gene is a histocompatibility antigen in kidney transplantation.
Carapito R, Aouadi I, Verniquet M, Untrau M, Pichot A, Beaudrey T, Bassand X, Meyer S, Faucher L, Posson J, Morlon A, Kotova I, Delbos F, Walencik A, Aarnink A, Kennel A, Suberbielle C, Taupin JL, Matern BM, Spierings E, Congy-Jolivet N, Essaydi A, Perrin P, Blancher A, Charron D, Cereb N, Maumy-Bertrand M, Bertrand F, Garrigue V, Pernin V, Weekers L, Naesens M, Kamar N, Legendre C, Glotz D, Caillard S, Ladrière M, Giral M, Anglicheau D, Süsal C, Bahram S. Carapito R, et al. Among authors: pichot a. Nat Med. 2022 May;28(5):989-998. doi: 10.1038/s41591-022-01725-2. Epub 2022 Mar 14. Nat Med. 2022. PMID: 35288692 Free PMC article.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. Castro CN, et al. Among authors: pichot a. J Exp Med. 2020 Dec 7;217(12):e20192275. doi: 10.1084/jem.20192275. J Exp Med. 2020. PMID: 32766723 Free PMC article.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: pichot a. Am J Hum Genet. 2020 Jan 2;106(1):137. doi: 10.1016/j.ajhg.2019.11.014. Epub 2019 Dec 24. Am J Hum Genet. 2020. PMID: 31879022 Free PMC article. No abstract available.
Temporal multiomic modeling reveals a B-cell receptor proliferative program in chronic lymphocytic leukemia.
Schleiss C, Carapito R, Fornecker LM, Muller L, Paul N, Tahar O, Pichot A, Tavian M, Nicolae A, Miguet L, Mauvieux L, Herbrecht R, Cianferani S, Freund JN, Carapito C, Maumy-Bertrand M, Bahram S, Bertrand F, Vallat L. Schleiss C, et al. Among authors: pichot a. Leukemia. 2021 May;35(5):1463-1474. doi: 10.1038/s41375-021-01221-5. Epub 2021 Apr 8. Leukemia. 2021. PMID: 33833385 Free PMC article.
47 results