245 related articles for article (PubMed ID: 33129265)
21. Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.
Takaluoma K; Hyry M; Lantto J; Sormunen R; Bank RA; Kivirikko KI; Myllyharju J; Soininen R
J Biol Chem; 2007 Mar; 282(9):6588-96. PubMed ID: 17197443
[TBL] [Abstract][Full Text] [Related]
22. Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Colman M; Vroman R; Dhooge T; Malfait Z; Symoens S; Burnyté B; Nampoothiri S; Kariminejad A; Malfait F; Syx D
Hum Mutat; 2022 Dec; 43(12):1994-2009. PubMed ID: 36054293
[TBL] [Abstract][Full Text] [Related]
23. Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with
Bhandari A; Siu V; Duncan AA
J Vasc Surg Cases Innov Tech; 2024 Jun; 10(3):101465. PubMed ID: 38694482
[No Abstract] [Full Text] [Related]
24. Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the
Yan X; Shu J; Nie Y; Zhang Y; Wang P; Zhou W; Cui X; Liu Y
Front Pediatr; 2022; 10():813758. PubMed ID: 35252061
[TBL] [Abstract][Full Text] [Related]
25. Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene.
Zieminski P; Risse J; Legrand A; Dufrost V; Bal L; Settembre N; Malikov S; Jeunemaitre X; Wahl D; Zuily S
Acta Cardiol; 2021 Jul; 76(5):557-558. PubMed ID: 32746767
[No Abstract] [Full Text] [Related]
26. A case of Ehlers Danlos syndrome type VI.
Salavoura K; Valari M; Kolialexi A; Mavrou A; Kitsiou S
Genet Couns; 2006; 17(3):291-4. PubMed ID: 17100196
[TBL] [Abstract][Full Text] [Related]
27. Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Walker LC; Teebi AS; Marini JC; De Paepe A; Malfait F; Atsawasuwan P; Yamauchi M; Yeowell HN
Mol Genet Metab; 2004 Dec; 83(4):312-21. PubMed ID: 15589118
[TBL] [Abstract][Full Text] [Related]
28. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).
Voermans NC; van Engelen BG
Neuromuscul Disord; 2008 Nov; 18(11):906; author reply 907. PubMed ID: 18815038
[No Abstract] [Full Text] [Related]
29. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
Hautala T; Heikkinen J; Kivirikko KI; Myllylä R
Genomics; 1993 Feb; 15(2):399-404. PubMed ID: 8449506
[TBL] [Abstract][Full Text] [Related]
30. Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?
Kariminejad A; Bozorgmehr B; Khatami A; Kariminejad MH; Giunta C; Steinmann B
Iran J Pediatr; 2010 Sep; 20(3):358-62. PubMed ID: 23056730
[TBL] [Abstract][Full Text] [Related]
31. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
Pousi B; Hautala T; Heikkinen J; Pajunen L; Kivirikko KI; Myllylä R
Am J Hum Genet; 1994 Nov; 55(5):899-906. PubMed ID: 7977351
[TBL] [Abstract][Full Text] [Related]
32. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.
Pousi B; Heikkinen J; Schröter J; Pope M; Myllylä R
Mutat Res; 2000 Feb; 432(1-2):33-7. PubMed ID: 10729709
[TBL] [Abstract][Full Text] [Related]
33. Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.
Zahed-Cheikh M; Tosello B; Coze S; Gire C
Indian Pediatr; 2017 Jun; 54(6):495-497. PubMed ID: 28667723
[TBL] [Abstract][Full Text] [Related]
34. Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
Giunta C; Bürer-Chambaz C; Steinmann B
Hum Genet; 2009 Apr; 125(3):346. PubMed ID: 19320026
[No Abstract] [Full Text] [Related]
35. Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Dordoni C; Ciaccio C; Venturini M; Calzavara-Pinton P; Ritelli M; Colombi M
Am J Med Genet A; 2016 Aug; 170(8):2031-8. PubMed ID: 27149304
[TBL] [Abstract][Full Text] [Related]
36. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
Hyland J; Ala-Kokko L; Royce P; Steinmann B; Kivirikko KI; Myllylä R
Nat Genet; 1992 Nov; 2(3):228-31. PubMed ID: 1345174
[TBL] [Abstract][Full Text] [Related]
37. Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.
Castronovo P; Aleo S; Seresini A; Grilli F; Brunati E; Marchisio P; Guez S; Milani D
Genes (Basel); 2022 Nov; 13(12):. PubMed ID: 36553464
[TBL] [Abstract][Full Text] [Related]
38. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
Al-Hussain H; Zeisberger SM; Huber PR; Giunta C; Steinmann B
Am J Med Genet A; 2004 Jan; 124A(1):28-34. PubMed ID: 14679583
[TBL] [Abstract][Full Text] [Related]
39. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
Wenstrup RJ; Murad S; Pinnell SR
J Pediatr; 1989 Sep; 115(3):405-9. PubMed ID: 2504907
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]