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Journal Abstract Search

131 related items for PubMed ID: 38355093

  • 1. 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.
    Eur J Med Genet; 2024 Apr; 68():104919. PubMed ID: 38355093
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  • 2. [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].
    Major T, Gindele R, Szabó Z, Jóni N, Kis Z, Bora L, Bárdossy P, Rácz T, Karosi T, Bereczky Z.
    Orv Hetil; 2019 May; 160(18):710-719. PubMed ID: 31030535
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  • 3. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).
    McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K.
    Genet Med; 2020 Jul; 22(7):1201-1205. PubMed ID: 32300199
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  • 4. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
    Kitayama K, Ishiguro T, Komiyama M, Morisaki T, Morisaki H, Minase G, Hamanaka K, Miyatake S, Matsumoto N, Kato M, Takahashi T, Yorifuji T.
    BMC Med Genomics; 2021 Dec 06; 14(1):288. PubMed ID: 34872578
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  • 5. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
    Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, Pérez-Pérez J, Botella LM.
    BMC Med Genet; 2017 Feb 23; 18(1):20. PubMed ID: 28231770
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  • 10. New genetic drivers in hemorrhagic hereditary telangiectasia.
    Cerdà P, Castillo SD, Aguilera C, Iriarte A, Rocamora JL, Larrinaga AM, Viñals F, Graupera M, Riera-Mestre A.
    Eur J Intern Med; 2024 Jan 23; 119():99-108. PubMed ID: 37689549
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  • 11. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
    Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J.
    Genet Med; 2019 Sep 23; 21(9):2007-2014. PubMed ID: 30760892
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  • 13. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
    Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P.
    J Med Genet; 2018 Dec 23; 55(12):824-830. PubMed ID: 30244195
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  • 14. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
    Tørring PM, Kjeldsen AD, Ousager LB, Brusgaard K.
    Mol Genet Genomic Med; 2018 Jan 23; 6(1):121-125. PubMed ID: 29243366
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  • 15. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
    Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA, Genomics England Research ConsortiumGenomics England, London, UK., Aldred MA, Shovlin CL.
    Am J Med Genet A; 2022 Mar 23; 188(3):959-964. PubMed ID: 34904380
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  • 16. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
    Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S, French Rendu-Osler Network.
    Hum Mutat; 2006 Jun 23; 27(6):598. PubMed ID: 16705692
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  • 18. Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.
    Sadick H, Hage J, Goessler U, Stern-Straeter J, Riedel F, Hoermann K, Bugert P.
    BMC Med Genet; 2009 Jun 09; 10():53. PubMed ID: 19508727
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  • 19. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
    Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A.
    Genes (Basel); 2023 Mar 22; 14(3):. PubMed ID: 36981042
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  • 20. 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.
    Poisson A, Lesca G, Chatron N, Favre E, Cottin V, Gamondes D, Sanlaville D, Edery P, Giraud S, Demily C, Dupuis-Girod S.
    Eur J Med Genet; 2019 Nov 22; 62(11):103565. PubMed ID: 30389587
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