Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Syndrome and ACVRL1[original query] |
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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. BMC medical genetics 2009 10 (1): 53. Sadick Haneen, Hage Johanna, Goessler Ulrich, Stern-Straeter Jens, Riedel Frank, Hoermann Karl, Bugert Pet |
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. PloS one 2015 10 (7): e0132111. Alaa El Din Ferdos, Patri Sylvie, Thoreau Vincent, Rodriguez-Ballesteros Montserrat, Hamade Eva, Bailly Sabine, Gilbert-Dussardier Brigitte, Abou Merhi Raghida, Kitzis Ala |
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. Upsala journal of medical sciences 2018 9 123 (3): 153-157. Karlsson Torbjörn, Cherif Hon |
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of pediatrics 2020 Jun . Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M |
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. American journal of medical genetics. Part A 2021 12 188 (3): 959-964. Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, , Aldred Micheala A, Shovlin Claire |
Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study. Jornal de pediatria 2021 Oct . Nakwan Narongsak, Mahasirimongkol Surakameth, Satproedprai Nusara, Chaiyasung Tassamonwan, Kunhapan Punna, Charoenlap Cheep, Singkhamanan Kamonnut, Charalsawadi Chariyaw |
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