These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 27857801)

  • 21. Identical twins with the classical form of Schwartz-Jampel syndrome.
    Pinto-Escalante D; Ceballos-Quintal JM; Canto-Herrera J
    Clin Dysmorphol; 1997 Jan; 6(1):45-9. PubMed ID: 9018418
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
    Nicole S; Davoine CS; Topaloglu H; Cattolico L; Barral D; Beighton P; Hamida CB; Hammouda H; Cruaud C; White PS; Samson D; Urtizberea JA; Lehmann-Horn F; Weissenbach J; Hentati F; Fontaine B
    Nat Genet; 2000 Dec; 26(4):480-3. PubMed ID: 11101850
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Schwartz-Jampel syndrome: report of one case.
    Yang MT; Yang CC; Chu LW; Lee WT; Young C; Wang PJ
    Acta Paediatr Taiwan; 2002; 43(4):220-3. PubMed ID: 12238912
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 70(5):1368-75. PubMed ID: 11941538
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Long-term follow-up of a Schwartz-Jampel syndrome case.
    Kuliński W; Burak M; Michalska A
    Wiad Lek; 2018; 71(7):1429-1432. PubMed ID: 30448822
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine.
    Squires LA; Prangley J
    Pediatr Neurol; 1996 Sep; 15(2):172-4. PubMed ID: 8888056
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
    Ho NC; Sandusky S; Madike V; Francomano CA; Dalakas MC
    BMC Neurol; 2003 Jul; 3():3. PubMed ID: 12839625
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spinal anesthesia in a patient with Schwartz-Jampel syndrome.
    Shaalan O; Daoud M; El-Molla A; Al-Otaibi R; Alatassi A
    JA Clin Rep; 2020 Jul; 6(1):51. PubMed ID: 32648012
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Schwartz-Jampel syndrome with autosomal-dominant inheritance.
    Ferrannini E; Perniola T; Krajewska G; Serlenga L; Trizio M
    Eur Neurol; 1982; 21(3):137-46. PubMed ID: 7117301
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Schwartz-Jampel syndrome and perlecan deficiency.
    Stum M; Davoine CS; Fontaine B; Nicole S
    Acta Myol; 2005 Oct; 24(2):89-92. PubMed ID: 16550923
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Schwartz-Jampel syndrome.
    Chandra SR; Issac TG; Gayathri N; Shivaram S
    J Pediatr Neurosci; 2015; 10(2):169-71. PubMed ID: 26167227
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
    Gürbüz G; Albayrak HM
    Turk J Pediatr; 2019; 61(6):967-970. PubMed ID: 32134596
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.
    Echaniz-Laguna A; Rene F; Marcel C; Bangratz M; Fontaine B; Loeffler JP; Nicole S
    Muscle Nerve; 2009 Jul; 40(1):55-61. PubMed ID: 19367640
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series.
    Aburahma SK; Al-Khateeb T; Alrefai A; Amarin Z
    J Child Neurol; 2009 Jan; 24(1):5-8. PubMed ID: 19168812
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Computer photogrammetry as a postural assessment in Schwartz-Jampel syndrome: A case report.
    Paula de Moraes Jorge A; Monteiro ER; Hoogenboom BJ; Oliveira A; Palassi Quintela MV
    J Bodyw Mov Ther; 2021 Apr; 26():72-76. PubMed ID: 33992300
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings.
    Iwata H; Ozawa H; Kamei A; Sasaki M; Hanaoka S; Sugai K; Hashimoto T; Nonaka I
    Brain Dev; 2000 Dec; 22(8):494-7. PubMed ID: 11111063
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Schwartz Jampel syndrome in children.
    Arya R; Sharma S; Gupta N; Kumar S; Kabra M; Gulati S
    J Clin Neurosci; 2013 Feb; 20(2):313-7. PubMed ID: 23219824
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 4(9):1633-6. PubMed ID: 8541852
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Schwartz-Jampel syndrome: a description of two adult siblings].
    Carod-Artal FJ; Fernandes da Silva TV; Christino-Marinho PB; Bonfim-Souza D
    Rev Neurol; 2002 Jul 16-31; 35(2):131-4. PubMed ID: 12221624
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome.
    Topaloğlu H; Serdaroğlu A; Okan M; Gücüyener K; Topçu M
    Neuropediatrics; 1993 Aug; 24(4):232-4. PubMed ID: 8232784
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.