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Journal Abstract Search

262 related items for PubMed ID: 24028571

  • 1. 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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  • 2. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
    Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A.
    J Hum Genet; 2016 May 12; 61(5):457-61. PubMed ID: 26763883
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  • 3. 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 12; 41(11):981-988. PubMed ID: 30209282
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  • 5. 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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  • 7. [Advances in the molecular genetics of brachydactyly].
    Guo Y, Liang H, Deng H.
    Yi Chuan; 2012 Dec 22; 34(12):1522-8. PubMed ID: 23262098
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  • 8. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
    Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q.
    Clin Chim Acta; 2015 Jun 15; 446():9-14. PubMed ID: 25801215
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  • 11. 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 15; 170(3):734-42. PubMed ID: 26640227
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  • 12. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
    Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.
    Eur J Hum Genet; 2013 Jul 15; 21(7):743-8. PubMed ID: 23188045
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  • 13. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
    Jean-Marçais N, Decamp M, Gérard M, Ribault V, Andrieux J, Kottler ML, Plessis G.
    Am J Med Genet A; 2015 Jan 15; 167A(1):185-9. PubMed ID: 25402011
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  • 14. 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 15; 63(4):103781. PubMed ID: 31589936
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  • 15. A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
    Scheffer-Rath MEA, Veenstra-Knol HE, Boot AM.
    Bone Rep; 2023 Dec 15; 19():101699. PubMed ID: 37501674
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  • 16. 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 15; 26(3):295-298. PubMed ID: 38319596
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  • 17. Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.
    Derbent M, Baskin E, Ağildere M, Agras PI, Saatçi U.
    Pediatr Nephrol; 2006 Mar 15; 21(3):390-3. PubMed ID: 16369843
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  • 18. Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.
    Mahendhar R, Zarghamravanbakhsh P, Pavlovic MN, Butuc R, Sachmechi I.
    Cureus; 2018 Aug 21; 10(8):e3169. PubMed ID: 30357083
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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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  • 20. 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 01; 61(8):701-3. PubMed ID: 27053290
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