261 related articles for article (PubMed ID: 23922384)
1. 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]
2. 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]
3. 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]
4. 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]
5. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Wang X; Jia X; Xiao X; Li S; Li J; Li Y; Wei Y; Liang X; Guo X
Mol Vis; 2016; 22():697-704. PubMed ID: 27390512
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Hearing impairment in Stickler syndrome: a systematic review.
Acke FR; Dhooge IJ; Malfait F; De Leenheer EM
Orphanet J Rare Dis; 2012 Oct; 7():84. PubMed ID: 23110709
[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. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
Nixon TRW; Alexander P; Richards A; McNinch A; Bearcroft PWP; Cobben J; Snead MP
Am J Med Genet A; 2019 Aug; 179(8):1498-1506. PubMed ID: 31090205
[TBL] [Abstract][Full Text] [Related]
11. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO; AlAbdi L; Patel N; Helaby R; Hashem M; Abdulwahab F; AlBadr FB; Alkuraya FS
Mol Genet Genomic Med; 2021 May; 9(5):e1628. PubMed ID: 33951325
[TBL] [Abstract][Full Text] [Related]
12. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G; Snoeckx RL; Hilgert N; van den Ende J; Fukuoka H; Wagatsuma M; Suzuki H; Smets RM; Vanhoenacker F; Declau F; Van de Heyning P; Usami S
Am J Hum Genet; 2006 Sep; 79(3):449-57. PubMed ID: 16909383
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Autosomal recessive Stickler syndrome associated with homozygous mutations in the
Kjellström U; Martell S; Brobeck C; Andréasson S
Ophthalmic Genet; 2021 Apr; 42(2):161-169. PubMed ID: 33356723
[No Abstract] [Full Text] [Related]
16. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Faletra F; D'Adamo AP; Bruno I; Athanasakis E; Biskup S; Esposito L; Gasparini P
Am J Med Genet A; 2014 Jan; 164A(1):42-7. PubMed ID: 24273071
[TBL] [Abstract][Full Text] [Related]
17. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Richards AJ; McNinch A; Martin H; Oakhill K; Rai H; Waller S; Treacy B; Whittaker J; Meredith S; Poulson A; Snead MP
Hum Mutat; 2010 Jun; 31(6):E1461-71. PubMed ID: 20513134
[TBL] [Abstract][Full Text] [Related]
18. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
Chan TK; Alkaabi MK; ElBarky AM; El-Hattab AW
Clin Genet; 2019 Feb; 95(2):325-328. PubMed ID: 30362103
[TBL] [Abstract][Full Text] [Related]
19. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Hufnagel SB; Weaver KN; Hufnagel RB; Bader PI; Schorry EK; Hopkin RJ
Am J Med Genet A; 2014 Oct; 164A(10):2607-12. PubMed ID: 25091507
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
