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Journal Abstract Search

231 related items for PubMed ID: 15211654

  • 21. A distinct variant of the Ehlers-Danlos syndrome.
    Hernández A, Aguirre-Negrete MG, Ramírez-Soltero S, González-Mendoza A, Martínez y Martínez R, Velázquez-Cabrera A, Cantú JM.
    Clin Genet; 1979 Nov; 16(5):335-9. PubMed ID: 519906
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  • 22. Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.
    Bally I, Dalonneau F, Chouquet A, Gröbner R, Amberger A, Kapferer-Seebacher I, Stoiber H, Zschocke J, Thielens NM, Rossi V, Gaboriaud C.
    Front Immunol; 2019 Nov; 10():2962. PubMed ID: 31921203
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  • 23. Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
    Furukawa K, Okajima T.
    Biochim Biophys Acta; 2002 Dec 19; 1573(3):377-81. PubMed ID: 12417421
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  • 24. Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
    Giunta C, Steinmann B.
    Am J Med Genet; 2000 Jan 03; 90(1):72-9. PubMed ID: 10602121
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  • 25. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep 03; 12(3):229-40. PubMed ID: 8217561
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  • 26. 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
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  • 27. 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 06; 50(5):546-549. PubMed ID: 31365140
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  • 28. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
    Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.
    Hum Mutat; 2015 May 06; 36(5):535-47. PubMed ID: 25703627
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  • 29. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
    Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2015 Jan 06; 23(1):49-53. PubMed ID: 24755949
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  • 31. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.
    Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, Colombi M.
    Genes (Basel); 2019 Feb 12; 10(2):. PubMed ID: 30759870
    [Abstract] [Full Text] [Related]

  • 32. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
    Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS.
    Genet Med; 2019 Sep 12; 21(9):2081-2091. PubMed ID: 30837697
    [Abstract] [Full Text] [Related]

  • 33. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.
    Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM.
    Am J Hum Genet; 1998 Aug 12; 63(2):390-8. PubMed ID: 9683580
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  • 34. A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
    Ullah I, Aamir M, Ilyas M, Ahmed A, Jelani M, Ullah W, Abbas M, Ishfaq M, Ali F, Yip J, Efthymiou S, Ahmed H, Houlden H.
    Congenit Anom (Kyoto); 2021 Sep 12; 61(5):177-182. PubMed ID: 34184791
    [Abstract] [Full Text] [Related]

  • 35. Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
    Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M.
    Am J Med Genet A; 2019 May 12; 179(5):846-851. PubMed ID: 30821104
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  • 36. Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
    Lorenz D, Kress W, Zaum AK, Speer CP, Hebestreit H.
    BMC Pediatr; 2021 Jun 30; 21(1):293. PubMed ID: 34193099
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