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17 results

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Page 1
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Among authors: saillour v. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free article.
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Tusseau M, Eyries M, Chatron N, Coulet F, Guichet A, Colin E, Demeer B, Maillard H, Thevenon J, Lavigne C, Saillour V, Paris C, De Sainte Agathe JM, Pujalte M, Guilhem A, Dupuis-Girod S, Lesca G. Tusseau M, et al. Among authors: saillour v. Eur J Med Genet. 2024 Apr;68:104919. doi: 10.1016/j.ejmg.2024.104919. Epub 2024 Feb 12. Eur J Med Genet. 2024. PMID: 38355093 Free article.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: saillour v. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Lunati A, Petit A, Lapillonne H, Gameiro C, Saillour V, Garel C, Doummar D, Qebibo L, Aissat A, Fanen P, Bartolucci P, Galactéros F, Funalot B, Burglen L, Mansour-Hendili L. Lunati A, et al. Among authors: saillour v. Am J Hematol. 2021 Apr 1;96(4):E121-E123. doi: 10.1002/ajh.26099. Epub 2021 Feb 12. Am J Hematol. 2021. PMID: 33460484 Free article. No abstract available.
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. Beauregard-Lacroix E, et al. Among authors: saillour v. Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6. Eur J Hum Genet. 2020. PMID: 31695177 Free PMC article.
MYOD1 involvement in myopathy.
Lopes F, Miguet M, Mucha BE, Gauthier J, Saillour V, Nguyen CÉ, Vanasse M, Ellezam B, Michaud JL, Soucy JF, Campeau PM. Lopes F, et al. Among authors: saillour v. Eur J Neurol. 2018 Dec;25(12):e123-e124. doi: 10.1111/ene.13782. Eur J Neurol. 2018. PMID: 30403323 No abstract available.
Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. D'Amours G, et al. Among authors: saillour v. Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7. Clin Genet. 2018. PMID: 29700810
KMT2E-ASNS: a novel relapse-specific fusion gene in early T-cell precursor acute lymphoblastic leukemia.
Khater F, Lajoie M, Langlois S, Healy J, Cellot S, Richer C, Beaulieu P, St-Onge P, Saillour V, Minden M, Marzouki M, Krajinovic M, Bittencourt H, Sinnett D. Khater F, et al. Among authors: saillour v. Blood. 2017 Mar 23;129(12):1729-1732. doi: 10.1182/blood-2016-10-744219. Epub 2017 Jan 9. Blood. 2017. PMID: 28069604 Free PMC article. No abstract available.
17 results