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Journal Abstract Search

175 related items for PubMed ID: 32631253

  • 1. Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
    Li X, Li Z, Chen P, Wang Y, Wang DW, Wang DW.
    BMC Med Genet; 2020 Jul 06; 21(1):144. PubMed ID: 32631253
    [Abstract] [Full Text] [Related]

  • 2. Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.
    Fan P, Zhang D, Yang KQ, Zhang QY, Luo F, Lou Y, Liu YX, Zhang HM, Song L, Cai J, Wu HY, Zhou XL.
    Am J Hypertens; 2020 Feb 22; 33(2):190-197. PubMed ID: 31549136
    [Abstract] [Full Text] [Related]

  • 3. A PDE3A mutation in familial hypertension and brachydactyly syndrome.
    Boda H, Uchida H, Takaiso N, Ouchi Y, Fujita N, Kuno A, Hata T, Nagatani A, Funamoto Y, Miyata M, Yoshikawa T, Kurahashi H, Inagaki H.
    J Hum Genet; 2016 Aug 22; 61(8):701-3. PubMed ID: 27053290
    [Abstract] [Full Text] [Related]

  • 4. PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
    Renkema KY, Westermann JM, Nievelstein RAJ, Lo-A-Njoe SM, van der Zwaag B, Manshande ME, van Haelst MM.
    Hypertens Res; 2018 Nov 22; 41(11):981-988. PubMed ID: 30209282
    [Abstract] [Full Text] [Related]

  • 5. PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
    Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S.
    Nat Genet; 2015 Jun 22; 47(6):647-53. PubMed ID: 25961942
    [Abstract] [Full Text] [Related]

  • 6. PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
    Lee CG, Kang K, Yoon RG, Seo JY, Park JM.
    Eur J Med Genet; 2020 Apr 22; 63(4):103781. PubMed ID: 31589936
    [Abstract] [Full Text] [Related]

  • 7. Phosphodiesterase 3A and Arterial Hypertension.
    Ercu M, Markó L, Schächterle C, Tsvetkov D, Cui Y, Maghsodi S, Bartolomaeus TUP, Maass PG, Zühlke K, Gregersen N, Hübner N, Hodge R, Mühl A, Pohl B, Illas RM, Geelhaar A, Walter S, Napieczynska H, Schelenz S, Taube M, Heuser A, Anistan YM, Qadri F, Todiras M, Plehm R, Popova E, Langanki R, Eichhorst J, Lehmann M, Wiesner B, Russwurm M, Forslund SK, Kamer I, Müller DN, Gollasch M, Aydin A, Bähring S, Bader M, Luft FC, Klussmann E.
    Circulation; 2020 Jul 14; 142(2):133-149. PubMed ID: 32524868
    [Abstract] [Full Text] [Related]

  • 8. A novel variant of IHH in a Chinese family with brachydactyly type 1.
    Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y.
    BMC Med Genet; 2020 Mar 24; 21(1):60. PubMed ID: 32209048
    [Abstract] [Full Text] [Related]

  • 9. [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
    Ren H, Zhao W, Jiang N, Li S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):561-564. PubMed ID: 38684301
    [Abstract] [Full Text] [Related]

  • 10. Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
    Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U.
    Am J Med Genet A; 2019 Feb 10; 179(2):295-299. PubMed ID: 30556293
    [Abstract] [Full Text] [Related]

  • 11. Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.
    Toka O, Tank J, Schächterle C, Aydin A, Maass PG, Elitok S, Bartels-Klein E, Hollfinger I, Lindschau C, Mai K, Boschmann M, Rahn G, Movsesian MA, Müller T, Doescher A, Gnoth S, Mühl A, Toka HR, Wefeld-Neuenfeld Y, Utz W, Töpper A, Jordan J, Schulz-Menger J, Klussmann E, Bähring S, Luft FC.
    Hypertension; 2015 Oct 10; 66(4):800-8. PubMed ID: 26283042
    [Abstract] [Full Text] [Related]

  • 12. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.
    Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L.
    BMC Pediatr; 2022 Sep 05; 22(1):528. PubMed ID: 36064339
    [Abstract] [Full Text] [Related]

  • 13. Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
    Kim YR, Yi M, Cho SA, Kim WY, Min J, Shin JG, Lee SJ.
    Ann Hum Genet; 2021 Mar 05; 85(2):80-91. PubMed ID: 33249558
    [Abstract] [Full Text] [Related]

  • 14. Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
    Ozaki N, Okuda H, Kobayashi H, Harada KH, Inoue S, Youssefian S, Koizumi A.
    BMC Med Genomics; 2021 Jul 27; 14(1):190. PubMed ID: 34315464
    [Abstract] [Full Text] [Related]

  • 15. The Case| A handful of hypertension.
    van den Born BJ, Oskam LC, Zidane M, Schächterle C, Klussmann E, Bähring S, Luft FC.
    Kidney Int; 2016 Oct 27; 90(4):911-3. PubMed ID: 27633875
    [No Abstract] [Full Text] [Related]

  • 16. Hypertension linked to PDE3A activation.
    Houslay M.
    Nat Genet; 2015 Jun 27; 47(6):562-3. PubMed ID: 26018892
    [Abstract] [Full Text] [Related]

  • 17. Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.
    Karaca A, Reyes M, Shumate LT, Taskaldiran I, Omma T, Ersoz Gulcelik N, Bastepe M.
    Bone; 2019 Jun 27; 123():153-158. PubMed ID: 30914275
    [Abstract] [Full Text] [Related]

  • 18. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
    Micheal S, Siddiqui SN, Zafar SN, Venselaar H, Qamar R, Khan MI, den Hollander AI.
    Neurogenetics; 2016 Jan 27; 17(1):17-23. PubMed ID: 26489929
    [Abstract] [Full Text] [Related]

  • 19. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
    Bradshaw G, Lualhati RR, Albury CL, Maksemous N, Roos-Araujo D, Smith RA, Benton MC, Eccles DA, Lea RA, Sutherland HG, Haupt LM, Griffiths LR.
    Front Immunol; 2018 Jan 27; 9():420. PubMed ID: 29556235
    [Abstract] [Full Text] [Related]

  • 20. Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
    Toka HR, Bähring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, Wienker TF, Toka O, Schuster H, Luft FC.
    Ann Intern Med; 1998 Aug 01; 129(3):204-8. PubMed ID: 9696728
    [Abstract] [Full Text] [Related]

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