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Journal Abstract Search

120 related items for PubMed ID: 30209282

  • 21. 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]

  • 22. Hypertension With Brachydactyly Syndrome: A Case Report.
    Asim R, Reddy A, Grigorieva Olson O, Ronen JA, Prasad V.
    Cureus; 2020 May 28; 12(5):e8329. PubMed ID: 32617206
    [Abstract] [Full Text] [Related]

  • 23. Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
    Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M.
    Am J Med Genet A; 2020 Oct 28; 182(10):2432-2436. PubMed ID: 32789964
    [Abstract] [Full Text] [Related]

  • 24. Childhood hypertension in autosomal-dominant hypertension with brachydactyly.
    Toka O, Maass PG, Aydin A, Toka H, Hübner N, Rüschendorf F, Gong M, Luft FC, Bähring S.
    Hypertension; 2010 Nov 28; 56(5):988-94. PubMed ID: 20837885
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.
    Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M.
    J Clin Endocrinol Metab; 2012 Sep 15; 97(9):E1808-13. PubMed ID: 22723333
    [Abstract] [Full Text] [Related]

  • 27. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
    Shalev SA, Spiegel R, Borochowitz ZU.
    Eur J Med Genet; 2012 Apr 15; 55(4):256-64. PubMed ID: 22440536
    [Abstract] [Full Text] [Related]

  • 28. A new mutation in the gene ROR2 causes brachydactyly type B1.
    Huang D, Jiang S, Zhang Y, Liu X, Zhang J, He R.
    Gene; 2014 Aug 15; 547(1):106-10. PubMed ID: 24954533
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
    Palka C, Antonucci I, Alfonsi M, Bedeschi MF, Mohn A, Lalatta F, Chiarelli F, Palka G, Stuppia L.
    Clin Dysmorphol; 2012 Jul 15; 21(3):137-140. PubMed ID: 22406540
    [No Abstract] [Full Text] [Related]

  • 31. Hypertension and brachydactyly syndrome: a further case report.
    Huang X, Li XL, Liu FY, Li H, Zhou H, Li XM.
    Clin Dysmorphol; 2022 Oct 01; 31(4):201-205. PubMed ID: 35762486
    [No Abstract] [Full Text] [Related]

  • 32. [Advances in the molecular genetics of brachydactyly].
    Guo Y, Liang H, Deng H.
    Yi Chuan; 2012 Dec 01; 34(12):1522-8. PubMed ID: 23262098
    [Abstract] [Full Text] [Related]

  • 33. Further delineation of the phenotype caused by loss of function mutations in PRMT7.
    Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E.
    Eur J Med Genet; 2019 Mar 01; 62(3):182-185. PubMed ID: 30006058
    [Abstract] [Full Text] [Related]

  • 34. Grange syndrome due to homozygous YY1AP1 missense rare variants.
    Ciuffetelli Alamo IV, Kwartler CS, Regalado ER, Afifi RO, Parkash S, Rideout A, Guo DC, Milewicz DM.
    Am J Med Genet A; 2019 Dec 01; 179(12):2500-2505. PubMed ID: 31633303
    [Abstract] [Full Text] [Related]

  • 35. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
    Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, FORGE Canada Consortium, Parboosingh JS, Innes AM.
    Hum Mutat; 2013 Jan 01; 34(1):97-102. PubMed ID: 23033274
    [Abstract] [Full Text] [Related]

  • 36. Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.
    Page MM, Hooper AJ, Glendenning P, Burnett JR.
    BMJ Case Rep; 2017 Apr 06; 2017():. PubMed ID: 28385908
    [Abstract] [Full Text] [Related]

  • 37. A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.
    Huang J, Liu HY, Wang RR, Xiao H, Wu D, Li T, Jiang YH, Zhang X.
    Chin Med J (Engl); 2019 Jul 20; 132(14):1681-1688. PubMed ID: 31283647
    [Abstract] [Full Text] [Related]

  • 38. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
    Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M.
    Eur J Hum Genet; 2016 Aug 20; 24(8):1132-6. PubMed ID: 26733284
    [Abstract] [Full Text] [Related]

  • 39. A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
    Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Juárez-Vázquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Núñez P.
    Eur J Med Genet; 2012 Nov 20; 55(11):611-4. PubMed ID: 22828468
    [Abstract] [Full Text] [Related]

  • 40. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
    Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE.
    Clin Endocrinol (Oxf); 2018 Jun 20; 88(6):820-829. PubMed ID: 29464738
    [Abstract] [Full Text] [Related]

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