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Journal Abstract Search

120 related items for PubMed ID: 30209282

  • 1. 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; 41(11):981-988. PubMed ID: 30209282
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  • 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
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  • 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
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  • 5. 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
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  • 6. 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
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  • 14. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
    Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP.
    Am J Med Genet A; 2016 Mar 14; 170(3):734-42. PubMed ID: 26640227
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  • 16. Brachydactyly E: isolated or as a feature of a syndrome.
    Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G.
    Orphanet J Rare Dis; 2013 Sep 12; 8():141. PubMed ID: 24028571
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  • 17. Hypertension linked to PDE3A activation.
    Houslay M.
    Nat Genet; 2015 Jun 12; 47(6):562-3. PubMed ID: 26018892
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  • 18. Reversal of cardiac and renal damage in a teenager with hypertension: A case report.
    Du H, Gao S, Dong W, Huang Q, Qu H, Zhang C, Guo L, Liu Z, Liu M.
    J Clin Hypertens (Greenwich); 2024 Mar 12; 26(3):295-298. PubMed ID: 38319596
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  • 19. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
    Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE.
    J Clin Endocrinol Metab; 2020 Aug 01; 105(8):. PubMed ID: 32311039
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