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Journal Abstract Search

778 related items for PubMed ID: 15657616

  • 21. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
    Wopereis S, Morava E, Grünewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA.
    Glycobiology; 2005 Dec; 15(12):1312-9. PubMed ID: 16037491
    [Abstract] [Full Text] [Related]

  • 22. Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.
    Oğur G, Yüksel-Apak M, Demiryont M.
    Am J Med Genet; 1990 Sep; 37(1):6-9. PubMed ID: 1700609
    [Abstract] [Full Text] [Related]

  • 23. Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes.
    Ghomrasseni S, Dridi M, Bonnefoix M, Septier D, Gogly G, Pellat B, Godeau G.
    J Eur Acad Dermatol Venereol; 2001 Jul; 15(4):305-11. PubMed ID: 11730039
    [Abstract] [Full Text] [Related]

  • 24. Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn.
    Koklu E, Gunes T, Ozturk MA, Akcakus M, Buyukkayhan D, Kurtoglu S.
    Pediatr Dermatol; 2007 Jul; 24(5):525-8. PubMed ID: 17958802
    [Abstract] [Full Text] [Related]

  • 25. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
    Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML.
    Am J Hum Genet; 2003 Apr; 72(4):998-1004. PubMed ID: 12618961
    [Abstract] [Full Text] [Related]

  • 26. [Surgical treatment of skin changes in cutis laxa (author's transl)].
    Breitbart E, Mensing H, Meigel W.
    Z Hautkr; 1981 Jan 15; 56(2):90-7. PubMed ID: 7222885
    [Abstract] [Full Text] [Related]

  • 27. [Cutis laxa. Classification, clinical aspects and molecular defects].
    Mensing H, Krieg T, Meigel W, Braun-Falco O.
    Hautarzt; 1984 Oct 15; 35(10):506-11. PubMed ID: 6500933
    [Abstract] [Full Text] [Related]

  • 28. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
    Wolthuis DF, van Asbeck E, Mohamed M, Gardeitchik T, Lim-Melia ER, Wevers RA, Morava E.
    Eur J Paediatr Neurol; 2014 Jul 15; 18(4):511-5. PubMed ID: 24767728
    [Abstract] [Full Text] [Related]

  • 29. Sotos syndrome and cutis laxa.
    Robertson SP, Bankier A.
    J Med Genet; 1999 Jan 15; 36(1):51-6. PubMed ID: 9950366
    [Abstract] [Full Text] [Related]

  • 30. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
    Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA.
    J Inherit Metab Dis; 2020 Nov 15; 43(6):1382-1391. PubMed ID: 32418222
    [Abstract] [Full Text] [Related]

  • 31. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
    Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z.
    Hum Mol Genet; 2006 Dec 01; 15(23):3379-86. PubMed ID: 17035250
    [Abstract] [Full Text] [Related]

  • 32. [Cutis laxa syndrome. Clinical, histologic and ultrastructural study of a new variant].
    Pitzalis G, Bonamico M, Mariani P, Palmieri G, Ceccamea A, Signoretti A.
    Minerva Pediatr; 1989 Apr 01; 41(4):193-7. PubMed ID: 2770644
    [Abstract] [Full Text] [Related]

  • 33. No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria.
    Sun XK, Chen JF.
    Br J Dermatol; 2011 Jan 01; 164(1):215-7. PubMed ID: 20849517
    [No Abstract] [Full Text] [Related]

  • 34. [Cutis laxa syndrome. Case report].
    Kermane A, Tachfouti S, Lezrek M, Mohcine Z.
    Bull Soc Belge Ophtalmol; 2004 Jan 01; (292):5-8. PubMed ID: 15253484
    [Abstract] [Full Text] [Related]

  • 35. Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
    Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K.
    Matrix Biol; 2016 Dec 01; 56():132-149. PubMed ID: 27339457
    [Abstract] [Full Text] [Related]

  • 36. Cutis Laxa syndrome: a case report.
    Hbibi M, Abourazzak S, Idrissi M, Chaouki S, Atmani S, Hida M.
    Pan Afr Med J; 2015 Dec 01; 20():3. PubMed ID: 25995800
    [Abstract] [Full Text] [Related]

  • 37. [Congenital generalized cutis laxa].
    Lambert D, Beer F, Jeannin-Magnificat C, Mabille JP, Israël J, Lambert-Weyl M, Nivelon-Chevalier A, Alison M.
    Ann Dermatol Venereol; 1983 Dec 01; 110(2):129-38. PubMed ID: 6881855
    [Abstract] [Full Text] [Related]

  • 38. Autosomal recessive cutis laxa in two siblings associated with blue sclera.
    Girisgen I, Mungan I, Cakir M, Ersoz S, Okten A.
    Pediatr Dermatol; 2007 Dec 01; 24(3):E10-3. PubMed ID: 17509111
    [Abstract] [Full Text] [Related]

  • 39. Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
    Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE.
    Am J Med Genet A; 2008 Nov 01; 146A(21):2740-5. PubMed ID: 18819152
    [Abstract] [Full Text] [Related]

  • 40. Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
    Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT.
    Pediatr Dermatol; 2008 Nov 01; 25(1):66-71. PubMed ID: 18304158
    [Abstract] [Full Text] [Related]

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