190 related articles for article (PubMed ID: 33348901)
1. Exon-Trapping Assay Improves Clinical Interpretation of
Micale L; Morlino S; Schirizzi A; Agolini E; Nardella G; Fusco C; Castellana S; Guarnieri V; Villa R; Bedeschi MF; Grammatico P; Novelli A; Castori M
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33348901
[TBL] [Abstract][Full Text] [Related]
2. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
Richards AJ; Fincham GS; McNinch A; Hill D; Poulson AV; Castle B; Lees MM; Moore AT; Scott JD; Snead MP
J Med Genet; 2013 Nov; 50(11):765-71. PubMed ID: 23922384
[TBL] [Abstract][Full Text] [Related]
3. Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
Vijzelaar R; Waller S; Errami A; Donaldson A; Lourenco T; Rodrigues M; McConnell V; Fincham G; Snead M; Richards A
BMC Med Genet; 2013 Apr; 14():48. PubMed ID: 23621912
[TBL] [Abstract][Full Text] [Related]
4. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Nixon T; Richards AJ; Lomas A; Abbs S; Vasudevan P; McNinch A; Alexander P; Snead MP
Mol Genet Genomic Med; 2020 Sep; 8(9):e1354. PubMed ID: 32578940
[TBL] [Abstract][Full Text] [Related]
5. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Abreu NJ; Koboldt DC; Gastier-Foster JM; Dave-Wala A; Flanigan KM; Waldrop MA
Am J Med Genet A; 2020 Mar; 182(3):557-560. PubMed ID: 31833174
[TBL] [Abstract][Full Text] [Related]
6. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Tompson SW; Faqeih EA; Ala-Kokko L; Hecht JT; Miki R; Funari T; Funari VA; Nevarez L; Krakow D; Cohn DH
Am J Med Genet A; 2012 Feb; 158A(2):309-14. PubMed ID: 22246659
[TBL] [Abstract][Full Text] [Related]
7. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR; Malfait F; Vanakker OM; Steyaert W; De Leeneer K; Mortier G; Dhooge I; De Paepe A; De Leenheer EM; Coucke PJ
Mol Genet Metab; 2014 Nov; 113(3):230-5. PubMed ID: 25240749
[TBL] [Abstract][Full Text] [Related]
8. A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.
Vogiatzi MG; Li D; Tian L; Garifallou JP; Kim CE; Hakonarson H; Levine MA
Osteoporos Int; 2018 Jan; 29(1):247-251. PubMed ID: 28971234
[TBL] [Abstract][Full Text] [Related]
9. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Brizola E; Gnoli M; Tremosini M; Nucci P; Bargiacchi S; La Barbera A; Giglio S; Sangiorgi L
Mol Genet Genomic Med; 2020 Sep; 8(9):e1353. PubMed ID: 32558342
[TBL] [Abstract][Full Text] [Related]
10. A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Lauritsen KF; Lildballe DL; Coucke PJ; Monrad R; Larsen DA; Gregersen PA
Eur J Med Genet; 2017 May; 60(5):275-278. PubMed ID: 28315471
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Higuchi Y; Hasegawa K; Yamashita M; Tanaka H; Tsukahara H
J Med Case Rep; 2017 Aug; 11(1):237. PubMed ID: 28841907
[TBL] [Abstract][Full Text] [Related]
12. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Kayserili H; Wollnik B; Güven G; Emiroğlu MU; Başerer N; Uyguner ZO
Am J Med Genet A; 2011 Jan; 155A(1):180-5. PubMed ID: 21204229
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M; Brunner HG; Manouvrier S; Hennekam R; Superti-Furga A; Kääriäinen H; Pauli RM; van Essen T; Warman ML; Bonaventure J; Miny P; Ala-Kokko L
Am J Hum Genet; 2000 Feb; 66(2):368-77. PubMed ID: 10677296
[TBL] [Abstract][Full Text] [Related]
14. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
Harel T; Rabinowitz R; Hendler N; Galil A; Flusser H; Chemke J; Gradstein L; Lifshitz T; Ofir R; Elbedour K; Birk OS
Am J Med Genet A; 2005 Jan; 132A(1):33-5. PubMed ID: 15558753
[TBL] [Abstract][Full Text] [Related]
15. Hearing Outcomes in Stickler Syndrome: Variation Due to
Bath F; Swanson D; Zavala H; Chinnadurai S; Roby BB
Cleft Palate Craniofac J; 2022 Aug; 59(8):970-975. PubMed ID: 34238052
[TBL] [Abstract][Full Text] [Related]
16. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
Janssen EJM; Stegmann APA; Stumpel CTRM
Clin Dysmorphol; 2021 Jan; 30(1):58-61. PubMed ID: 32897902
[No Abstract] [Full Text] [Related]
17. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
Li SW; Takanosu M; Arita M; Bao Y; Ren ZX; Maier A; Prockop DJ; Mayne R
Dev Dyn; 2001 Oct; 222(2):141-52. PubMed ID: 11668593
[TBL] [Abstract][Full Text] [Related]
18. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.
Martin S; Richards AJ; Yates JR; Scott JD; Pope M; Snead MP
Eur J Hum Genet; 1999; 7(7):807-14. PubMed ID: 10573014
[TBL] [Abstract][Full Text] [Related]
19. Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.
Avcin T; Makitie O; Susic M; Miller S; Thorne C; Tenenbaum J; Laxer RM; Cole WG
J Rheumatol; 2008 May; 35(5):920-6. PubMed ID: 18381781
[TBL] [Abstract][Full Text] [Related]
20. Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in
Su Y; Ran CQ; Liu ZL; Yang Y; Yuan G; Hu SH; Yu XF; He WT
Front Genet; 2023; 14():1154087. PubMed ID: 37347055
[No Abstract] [Full Text] [Related]
[Next] [New Search]
