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 *

111 related articles for article (PubMed ID: 12786757)

  • 21. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
    Chiarelli N; Carini G; Zoppi N; Ritelli M; Colombi M
    PLoS One; 2018; 13(1):e0191220. PubMed ID: 29346445
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
    Milewicz DM; Witz AM; Smith AC; Manchester DK; Waldstein G; Byers PH
    Am J Hum Genet; 1993 Jul; 53(1):62-70. PubMed ID: 8317500
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
    Shimaoka Y; Kosho T; Wataya-Kaneda M; Funakoshi M; Suzuki T; Hayashi S; Mitsuhashi Y; Isei T; Aoki Y; Yamazaki K; Ono M; Makino K; Tanaka T; Kunii E; Hatamochi A
    Br J Dermatol; 2010 Oct; 163(4):704-10. PubMed ID: 20518783
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].
    Chen B; Guan YQ; Wu XL; Qi YX; Yu HX; Li JX; Zhang J
    Zhonghua Yi Xue Za Zhi; 2011 Apr; 91(16):1122-4. PubMed ID: 21609597
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.
    Kuivaniemi H; Tromp G
    Gene; 2019 Jul; 707():151-171. PubMed ID: 31075413
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.
    Güven S; Kule O; Güleş D; Okumuş H; Oruç M; Celbiş O
    J Forensic Leg Med; 2020 Jul; 73():101969. PubMed ID: 32442117
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
    Nuytinck L; De Paepe A; Renard JP; Adriaens F; Leroy J
    Hum Mutat; 1994; 3(3):268-74. PubMed ID: 8019562
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Type IV Ehlers-Danlos syndrome with aspirin sensitivity. A family study.
    Grenko RT; Burns SL; Golden EA; Byers PH; Bovill EG
    Arch Pathol Lab Med; 1993 Oct; 117(10):989-92. PubMed ID: 8215841
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
    Tsipouras P; Byers PH; Schwartz RC; Chu ML; Weil D; Pepe G; Cassidy SB; Ramirez F
    Hum Genet; 1986 Sep; 74(1):41-6. PubMed ID: 2875936
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.
    Hamel BC; Pals G; Engels CH; van den Akker E; Boers GH; van Dongen PW; Steijlen PM
    Clin Genet; 1998 Jun; 53(6):440-6. PubMed ID: 9712532
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
    Richards AJ; Ward PN; Narcisi P; Nicholls AC; Lloyd JC; Pope FM
    Hum Genet; 1992 Jun; 89(4):414-8. PubMed ID: 1352273
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
    Jørgensen A; Fagerheim T; Rand-Hendriksen S; Lunde PI; Vorren TO; Pepin MG; Leistritz DF; Byers PH
    Eur J Hum Genet; 2015 Jun; 23(6):796-802. PubMed ID: 25205403
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
    Horn D; Siebert E; Seidel U; Rost I; Mayer K; Abou Jamra R; Mitter D; Kornak U
    Am J Med Genet A; 2017 Sep; 173(9):2534-2538. PubMed ID: 28742248
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.
    Pyeritz RE; Stolle CA; Parfrey NA; Myers JC
    Am J Med Genet; 1984 Nov; 19(3):607-22. PubMed ID: 6507506
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV.
    Barboi A; Dennis C; Timins M; Peltier W; Klotz CM; Jaradeh S
    J Clin Neuromuscul Dis; 2009 Dec; 11(2):81-7. PubMed ID: 19955990
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Baas AF; Spiering W; Moll FL; Page-Christiaens L; Beenakkers IC; Dooijes D; Vonken EP; van der Smagt JJ; Knoers NV; Koenen SV; van Herwaarden JA; Sieswerda GT
    Am J Med Genet A; 2017 Feb; 173(2):519-523. PubMed ID: 28102592
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.
    Collins MH; Schwarze U; Carpentieri DF; Kaplan P; Nathanson K; Meyer JS; Byers PH
    Pediatr Dev Pathol; 1999; 2(1):86-93. PubMed ID: 9841712
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
    Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 6.