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Journal Abstract Search

229 related items for PubMed ID: 36421833

  • 1. Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.
    Jaffey JA, Bullock G, Guo J, Mhlanga-Mutangadura T, O'Brien DP, Coates JR, Morrissey R, Hutchison R, Donnelly KS, Cohn LA, Katz ML, Johnson GS.
    Genes (Basel); 2022 Nov 19; 13(11):. PubMed ID: 36421833
    [Abstract] [Full Text] [Related]

  • 2. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
    Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS.
    Anim Genet; 2019 Oct 19; 50(5):543-545. PubMed ID: 31294848
    [Abstract] [Full Text] [Related]

  • 3. Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
    Simon R, Kiener S, Thom N, Schäfer L, Müller J, Schlohsarczyk EK, Gärtner U, Herden C, Leeb T, Lühken G.
    G3 (Bethesda); 2023 Aug 30; 13(9):. PubMed ID: 37462293
    [Abstract] [Full Text] [Related]

  • 4. Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome.
    Bauer A, Bateman JF, Lamandé SR, Hanssen E, Kirejczyk SGM, Yee M, Ramiche A, Jagannathan V, Welle M, Leeb T, Bateman FL.
    Genes (Basel); 2019 Sep 21; 10(10):. PubMed ID: 31546637
    [Abstract] [Full Text] [Related]

  • 5. Connective Tissue Disorders in Domestic Animals.
    Roberts JH, Halper J.
    Adv Exp Med Biol; 2021 Sep 21; 1348():325-335. PubMed ID: 34807427
    [Abstract] [Full Text] [Related]

  • 6. Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.
    Bullock G, Jaffey JA, Cohn LA, Sox E, Hostnik ET, Hutcheson KD, Matero E, Hoffmann KS, Johnson GS, Katz ML.
    J Vet Intern Med; 2024 Sep 21; 38(5):2431-2443. PubMed ID: 39175162
    [Abstract] [Full Text] [Related]

  • 7. Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis.
    Le Goff C, Somerville RP, Kesteloot F, Powell K, Birk DE, Colige AC, Apte SS.
    Development; 2006 Apr 21; 133(8):1587-96. PubMed ID: 16556917
    [Abstract] [Full Text] [Related]

  • 8. Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
    Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F.
    Genet Med; 2016 Sep 21; 18(9):882-91. PubMed ID: 26765342
    [Abstract] [Full Text] [Related]

  • 9. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
    Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV.
    J Invest Dermatol; 2004 Oct 21; 123(4):656-63. PubMed ID: 15373769
    [Abstract] [Full Text] [Related]

  • 10. Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
    Ha ZY, Chijiwa C, Lewis S.
    Genes (Basel); 2024 Apr 06; 15(4):. PubMed ID: 38674395
    [Abstract] [Full Text] [Related]

  • 11. A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome.
    Kiener S, Chevallier L, Jagannathan V, Briand A, Cochet-Faivre N, Reyes-Gomez E, Leeb T.
    Genes (Basel); 2022 May 23; 13(5):. PubMed ID: 35627319
    [Abstract] [Full Text] [Related]

  • 12. A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.
    Spycher M, Bauer A, Jagannathan V, Frizzi M, De Lucia M, Leeb T.
    Anim Genet; 2018 Dec 23; 49(6):641-644. PubMed ID: 30246406
    [Abstract] [Full Text] [Related]

  • 13. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.
    Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T.
    Anim Genet; 2019 Oct 23; 50(5):546-549. PubMed ID: 31365140
    [Abstract] [Full Text] [Related]

  • 14. Connective tissue disorders in domestic animals.
    Halper J.
    Adv Exp Med Biol; 2014 Oct 23; 802():231-40. PubMed ID: 24443030
    [Abstract] [Full Text] [Related]

  • 15. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
    Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M.
    Am J Med Genet C Semin Med Genet; 2015 Mar 23; 169C(1):43-53. PubMed ID: 25655071
    [Abstract] [Full Text] [Related]

  • 16. The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.
    Ni X, Jin C, Jiang Y, Wang O, Li M, Xing X, Xia W.
    BMC Med Genet; 2020 Oct 31; 21(1):214. PubMed ID: 33129265
    [Abstract] [Full Text] [Related]

  • 17. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
    Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV.
    Am J Hum Genet; 1999 Aug 31; 65(2):308-17. PubMed ID: 10417273
    [Abstract] [Full Text] [Related]

  • 18. A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
    Conti R, Zanchi C, Barbi E.
    Ital J Pediatr; 2021 Feb 12; 47(1):28. PubMed ID: 33579342
    [Abstract] [Full Text] [Related]

  • 19. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
    Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.
    Am J Med Genet A; 2004 Jul 01; 128A(1):39-45. PubMed ID: 15211654
    [Abstract] [Full Text] [Related]

  • 20. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
    Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M.
    Orphanet J Rare Dis; 2020 Jul 31; 15(1):197. PubMed ID: 32736638
    [Abstract] [Full Text] [Related]

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