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164 related items for PubMed ID: 8728692

  • 1. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
    Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D.
    J Med Genet; 1996 Mar; 33(3):203-11. PubMed ID: 8728692
    [Abstract] [Full Text] [Related]

  • 2. Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
    Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF.
    J Med Genet; 1997 Aug; 34(8):685-7. PubMed ID: 9279765
    [Abstract] [Full Text] [Related]

  • 3. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.
    Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A.
    Birth Defects Res A Clin Mol Teratol; 2003 Feb; 67(2):125-32. PubMed ID: 12769508
    [Abstract] [Full Text] [Related]

  • 4. Schwartz-Jampel syndrome: three pediatric case reports.
    Yapicioğlu H, Satar M, Yildizdaş D, Narli N, Suleymanova D, Tutak E.
    Genet Couns; 2003 Feb; 14(3):353-8. PubMed ID: 14577682
    [Abstract] [Full Text] [Related]

  • 5. Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.
    Verma A, Banait N, Suryawanshi P, Garegrat R.
    BMJ Case Rep; 2021 Jul 12; 14(7):. PubMed ID: 34253512
    [Abstract] [Full Text] [Related]

  • 6. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
    Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A.
    Eur J Pediatr; 1997 Mar 12; 156(3):214-23. PubMed ID: 9083764
    [Abstract] [Full Text] [Related]

  • 7. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
    Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A.
    Am J Med Genet; 1998 Jun 30; 78(2):150-4. PubMed ID: 9674906
    [Abstract] [Full Text] [Related]

  • 8. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
    Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.
    Am J Med Genet; 1998 Jun 30; 78(2):146-9. PubMed ID: 9674905
    [Abstract] [Full Text] [Related]

  • 9. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.
    Hunziker UA, Savoldelli G, Boltshauser E, Giedion A, Schinzel A.
    Prenat Diagn; 1989 Feb 30; 9(2):127-31. PubMed ID: 2646626
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  • 11. [Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review].
    Dai L, Fang F, Huang Y, Cheng H, Ren C.
    Zhonghua Er Ke Za Zhi; 2015 Nov 30; 53(11):855-9. PubMed ID: 26758326
    [Abstract] [Full Text] [Related]

  • 12. The Schwartz-Jampel syndrome.
    al Gazali LI.
    Clin Dysmorphol; 1993 Jan 30; 2(1):47-54. PubMed ID: 8298738
    [Abstract] [Full Text] [Related]

  • 13. Schwartz-Jampel syndrome: an atypical form?
    Figuera LE, Jimenez-Gil FJ, García-Cruz MO, Cantú JM.
    Am J Med Genet; 1993 Sep 15; 47(4):526-8. PubMed ID: 8256816
    [Abstract] [Full Text] [Related]

  • 14. Schwartz-Jampel syndrome with dominant inheritance.
    Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC.
    Muscle Nerve; 1990 Dec 15; 13(12):1152-63. PubMed ID: 2266988
    [Abstract] [Full Text] [Related]

  • 15. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
    Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y.
    Am J Hum Genet; 2002 May 15; 70(5):1368-75. PubMed ID: 11941538
    [Abstract] [Full Text] [Related]

  • 16. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
    Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE.
    Am J Med Genet; 2000 Oct 02; 94(4):287-95. PubMed ID: 11038441
    [Abstract] [Full Text] [Related]

  • 17. Neonatal manifestations of Schwartz-Jampel syndrome.
    Farrell SA, Davidson RG, Thorp P.
    Am J Med Genet; 1987 Aug 02; 27(4):799-805. PubMed ID: 3321990
    [Abstract] [Full Text] [Related]

  • 18. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.
    Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J.
    Hum Mol Genet; 1995 Sep 02; 4(9):1633-6. PubMed ID: 8541852
    [Abstract] [Full Text] [Related]

  • 19. Schwartz-Jampel syndrome: report of five cases.
    Reed UC, Reimao R, Espindola AA, Kok F, Ferreira LG, Resende MB, Messias TC, Carvalho MS, Diament A, Scaff M, Marie SK.
    Arq Neuropsiquiatr; 2002 Sep 02; 60(3-B):734-8. PubMed ID: 12364940
    [Abstract] [Full Text] [Related]

  • 20. [Schwartz-Jampel syndrome (osteochondromuscular dystrophy)].
    Ben Becher S, el Mabrouk J, Debbiche A, Hammou A, Ghram N, Makni S, Boudhina T.
    Arch Fr Pediatr; 1992 Nov 02; 49(9):799-802. PubMed ID: 1300968
    [Abstract] [Full Text] [Related]

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