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Journal Abstract Search

128 related items for PubMed ID: 36051068

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  • 2. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
    Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.
    Blood; 2018 Aug 02; 132(5):469-483. PubMed ID: 29891534
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  • 7. Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.
    Chandrasekhar C, Pasupuleti SK, Sarma PVGK.
    Blood Cells Mol Dis; 2020 Nov 02; 85():102479. PubMed ID: 32739800
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  • 12. Novel gene mutation in von Hippel-Lindau disease - a report of two cases.
    Wang J, Cao W, Wang Z, Zhu H.
    BMC Med Genet; 2019 Dec 10; 20(1):194. PubMed ID: 31823746
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  • 13. Genetic basis of unexplained erythrocytosis in Indian patients.
    Mallik N, Sharma P, Kaur Hira J, Chhabra S, Sreedharanunni S, Kumar N, Naseem S, Sachdeva MUS, Ahluwalia J, Malhotra P, Varma N, Varma S, Das R.
    Eur J Haematol; 2019 Aug 10; 103(2):124-130. PubMed ID: 31132167
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  • 15. Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
    Sochorcova L, Hlusickova Kapralova K, Fialova Kucerova J, Pospisilova D, Prochazkova D, Jahoda O, Kurekova S, Kralova B, Divoka M, Navratilova J, Manakova J, Kriegova E, Indrak K, Faber E, Divoky V, Horvathova M.
    Br J Haematol; 2023 Aug 10; 202(3):674-685. PubMed ID: 37246471
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  • 16. Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease.
    Huang Y, Zhou D, Liu J, Zhou P, Li X, Wang Z.
    Int J Mol Med; 2012 Jan 10; 29(1):47-52. PubMed ID: 21972040
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  • 17. Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.
    Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S.
    Bol Med Hosp Infant Mex; 2021 May 03; 78(4):341-345. PubMed ID: 33938902
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  • 19. [Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].
    Su Y, Shen WD, Wang CC, Han WJ, Liu J, Hou ZH, Song ZG, Huang DL, Han DY, Yang SM.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2013 Nov 03; 48(11):913-8. PubMed ID: 24444636
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