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PUBMED FOR HANDHELDS

Journal Abstract Search

141 related items for PubMed ID: 9489789

  • 1. Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.
    Grange DK, Balfour IC, Chen SC, Wood EG.
    Am J Med Genet; 1998 Feb 17; 75(5):469-80. PubMed ID: 9489789
    [Abstract] [Full Text] [Related]

  • 2. 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 17; 179(12):2500-2505. PubMed ID: 31633303
    [Abstract] [Full Text] [Related]

  • 3. Grange syndrome: an identifiable cause of stroke in young adults.
    Volonghi I, Frigerio M, Mardighian D, Gasparotti R, Del Zotto E, Giossi A, Costa P, Poli L, Jeannin G, Gregorini GA, Padovani A, Pezzini A.
    Am J Med Genet A; 2012 Nov 17; 158A(11):2894-8. PubMed ID: 22987684
    [Abstract] [Full Text] [Related]

  • 4. Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
    Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.
    J Hum Genet; 2019 Sep 17; 64(9):885-890. PubMed ID: 31270375
    [Abstract] [Full Text] [Related]

  • 5. Familial fibromuscular dysplasia presenting as sudden death.
    Dominguez FE, Tate LG, Robinson MJ.
    Am J Cardiovasc Pathol; 1988 Sep 17; 2(3):269-72. PubMed ID: 3219210
    [Abstract] [Full Text] [Related]

  • 6. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
    Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM.
    Am J Hum Genet; 2017 Jan 05; 100(1):21-30. PubMed ID: 27939641
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 179(2):295-299. PubMed ID: 30556293
    [Abstract] [Full Text] [Related]

  • 8. The genetics of fibromuscular dysplasia.
    Rushton AR.
    Arch Intern Med; 1980 Feb 05; 140(2):233-6. PubMed ID: 7352819
    [Abstract] [Full Text] [Related]

  • 9. Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia.
    Rambaud-Cousson A, Dudin AA, Zuaiter AS, Thalji A.
    Am J Med Genet; 1991 Aug 01; 40(2):144-5. PubMed ID: 1654744
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.
    Brunner HG, Winter RM.
    J Med Genet; 1991 Jun 01; 28(6):389-94. PubMed ID: 1870095
    [Abstract] [Full Text] [Related]

  • 11. Familial form of fibromuscular dysplasia of the internal carotid artery.
    Petit H, Bouchez B, Destee A, Clarisse J.
    J Neuroradiol; 1983 Jun 01; 10(1):15-22. PubMed ID: 6864261
    [No Abstract] [Full Text] [Related]

  • 12. A new case of Grange syndrome without cardiac findings.
    Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K.
    Am J Med Genet A; 2006 Jun 15; 140(12):1316-20. PubMed ID: 16691574
    [Abstract] [Full Text] [Related]

  • 13. Penetrance estimates and recurrence risks for fibromuscular dysplasia.
    Gladstien K, Rushton AR, Kidd KK.
    Clin Genet; 1980 Feb 15; 17(2):115-6. PubMed ID: 7363496
    [Abstract] [Full Text] [Related]

  • 14. Familial fibromuscular dysplasia of the mesenteric arteries.
    Meacham PW, Brantley B.
    South Med J; 1987 Oct 15; 80(10):1311-6. PubMed ID: 3660048
    [Abstract] [Full Text] [Related]

  • 15. Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.
    Learman Y, Katznelson MB, Bonné-Tamir B, Engel J, Hertz M, Goodman RM.
    Am J Med Genet; 1981 Oct 15; 10(3):245-55. PubMed ID: 6272576
    [Abstract] [Full Text] [Related]

  • 16. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993 Oct 15; 4(2):147-51. PubMed ID: 8395190
    [Abstract] [Full Text] [Related]

  • 17. Arterial hypertension with brachydactyly in a 15-year-old boy.
    Litwin M, Jurkiewicz E, Nowak K, Kościesza A, Grenda R, Malczyk K, Kościesza I.
    Pediatr Nephrol; 2003 Aug 15; 18(8):814-9. PubMed ID: 12811651
    [Abstract] [Full Text] [Related]

  • 18. Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.
    Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN, Bresnick GH, Giedion A, Lachman RS, Rimoin DL.
    Am J Med Genet; 1997 Dec 19; 73(3):279-85. PubMed ID: 9415685
    [Abstract] [Full Text] [Related]

  • 19. Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome?
    Weymann S, Yonekawa Y, Khan N, Martin E, Heppner FL, Schinzel A, Kotzot D.
    Am J Med Genet; 2001 Mar 15; 99(3):190-5. PubMed ID: 11241488
    [Abstract] [Full Text] [Related]

  • 20. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
    Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W.
    Clin Genet; 2012 Jul 15; 82(1):48-55. PubMed ID: 21554266
    [Abstract] [Full Text] [Related]

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