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 *

178 related articles for article (PubMed ID: 19455184)

  • 41. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
    Borck G; Beighton P; Wilhelm C; Kohlhase J; Kubisch C
    Am J Med Genet A; 2010 Aug; 152A(8):2090-3. PubMed ID: 20635400
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.
    Huljev Frković S; Slišković AM; Toivonen M; Crkvenac Gregore A; Šutalo A; Vrkić Kirhmajer M
    Croat Med J; 2022 Aug; 63(4):394-398. PubMed ID: 36046937
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
    Ruscitti F; Trevisan L; Rosti G; Gotta F; Cianflone A; Geroldi A; Origone P; Pichiecchio A; Viglio S; Iascone M; Mandich P
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1753. PubMed ID: 34318601
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.
    Konieczyńska M; Wypasek E; Karpiński M; Komar M; Symoens S; Coucke PJ; Undas A
    Kardiol Pol; 2019 Nov; 77(11):1070-1073. PubMed ID: 31575845
    [No Abstract]   [Full Text] [Related]  

  • 45. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
    Hebebrand M; Vasileiou G; Krumbiegel M; Kraus C; Uebe S; Ekici AB; Thiel CT; Reis A; Popp B
    Am J Med Genet A; 2019 Jan; 179(1):50-56. PubMed ID: 30548383
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
    Schwarze U; Hata R; McKusick VA; Shinkai H; Hoyme HE; Pyeritz RE; Byers PH
    Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
    Olson SL; Murray ML; Skeik N
    Ann Vasc Surg; 2019 Nov; 61():472.e9-472.e13. PubMed ID: 31394236
    [TBL] [Abstract][Full Text] [Related]  

  • 48. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
    Yeowell HN; Walker LC; Neumann LM
    Eur J Dermatol; 2005; 15(5):353-8. PubMed ID: 16172044
    [TBL] [Abstract][Full Text] [Related]  

  • 49. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
    Bouma P; Cabral WA; Cole WG; Marini JC
    J Biol Chem; 2001 Apr; 276(16):13356-64. PubMed ID: 11278977
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
    Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
    J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
    Malfait F; Syx D; Vlummens P; Symoens S; Nampoothiri S; Hermanns-Lê T; Van Laer L; De Paepe A
    Hum Mutat; 2010 Nov; 31(11):1233-9. PubMed ID: 20842734
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC; Marini JC; Grange DK; Filie J; Yeowell HN
    Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Phenotype of COL3A1/COL5A2 deletion patients.
    Kempers MJ; Wessels M; Van Berendoncks A; van de Laar IM; de Leeuw N; Loeys B
    Eur J Med Genet; 2022 Oct; 65(10):104593. PubMed ID: 35964930
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
    Ritelli M; Rovati C; Venturini M; Chiarelli N; Cinquina V; Castori M; Colombi M
    Clin Genet; 2020 Feb; 97(2):287-295. PubMed ID: 31600821
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.
    Lan NSR; Fietz M; Pachter N; Paul V; Playford D
    Cardiovasc Pathol; 2018; 35():48-51. PubMed ID: 29778910
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
    Giunta C; Nuytinck L; Raghunath M; Hausser I; De Paepe A; Steinmann B
    Am J Med Genet; 2002 May; 109(4):284-90. PubMed ID: 11992482
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene.
    Shimaoka Y; Hayashi S; Hamasaki Y; Terui K; Hatamochi A
    J Dermatol; 2013 Mar; 40(3):226-8. PubMed ID: 23293852
    [No Abstract]   [Full Text] [Related]  

  • 58. Nine Successful Pregnancy Outcomes in a Woman With Vascular Ehlers-Danlos Syndrome: A Case Report and Literature Review.
    Zaman Z; Henry SJ; Birkeland LE; Petty EM
    WMJ; 2022 Dec; 121(4):e71-e74. PubMed ID: 36637850
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
    Drera B; Zoppi N; Ritelli M; Tadini G; Venturini M; Wischmeijer A; Nicolazzi MA; Musumeci A; Penco S; Buscemi L; Crivelli S; Danesino C; Clementi M; Calzavara-Pinton P; Viglio S; Valli M; Barlati S; Colombi M
    J Dermatol Sci; 2011 Dec; 64(3):237-40. PubMed ID: 22019127
    [No Abstract]   [Full Text] [Related]  

  • 60. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
    Giunta C; Elçioglu NH; Albrecht B; Eich G; Chambaz C; Janecke AR; Yeowell H; Weis M; Eyre DR; Kraenzlin M; Steinmann B
    Am J Hum Genet; 2008 Jun; 82(6):1290-305. PubMed ID: 18513683
    [TBL] [Abstract][Full Text] [Related]  

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