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Quoted phrase not found in phrase index: "Deafness, X-linked 5"
Page 1
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected genes were analyzed by multiplex ligation-dependent probe amplification. ...Mean ages of onset of the different classes of RP were autoso …
Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected g …
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
Bush RA, Wei LL, Sieving PA. Bush RA, et al. Cold Spring Harb Perspect Med. 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. Cold Spring Harb Perspect Med. 2015. PMID: 26101206 Free PMC article. Review.
Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. ...
Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisi …
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
We subsequently identified seven affected males from five additional kindreds with novel and predicted pathogenic variants in GPC4. Segregation analysis and X-inactivation studies in carrier females provided supportive evidence that the GPC4 variants caused the condition. …
We subsequently identified seven affected males from five additional kindreds with novel and predicted pathogenic variants in GPC4. S …
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R, Wright AF. Vervoort R, et al. Hum Mutat. 2002 May;19(5):486-500. doi: 10.1002/humu.10057. Hum Mutat. 2002. PMID: 11968081 Review.
Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of retinal degeneration. ...Exon ORF15 is a "hot spot" for mutation, at least in the British population, in which it …
Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a sev …
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Chertkof J, et al. Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32787478 Free PMC article.
RESULTS: Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart bl …
RESULTS: Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/stra …
Uveal coloboma: clinical and basic science update.
Chang L, Blain D, Bertuzzi S, Brooks BP. Chang L, et al. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. Curr Opin Ophthalmol. 2006. PMID: 16932062 Review.
While most cases of coloboma are sporadic, autosomal dominant, autosomal recessive, and X-linked inheritance patterns have been described. Genetically, colobomata demonstrate pleiotropy, heterogeneity, variable expressivity, and reduced penetrance. Coloboma is a com …
While most cases of coloboma are sporadic, autosomal dominant, autosomal recessive, and X-linked inheritance patterns have bee …
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P. Su Y, et al. BMC Med Genet. 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. BMC Med Genet. 2018. PMID: 30176854 Free PMC article.
BACKGROUND: Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X- …
BACKGROUND: Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 tran …
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium. Demosthenous P, et al. Clin Genet. 2012 Mar;81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13. Clin Genet. 2012. PMID: 21332469
The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. ...We studied 42 patients (19M, 23F) of nine Hellenic families suspected clinically of X-linked ATS who presented with marked phenotypic hete …
The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. ...We studied 4 …
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S. Fouquet C, et al. Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23. Br J Haematol. 2019. PMID: 31338833 Free article.
Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. ...The prognoses of patients with TRNT1 and SLC2A38 mutations were generally d …
Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur clus …
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C. Kimchi A, et al. Ophthalmic Genet. 2019 Oct;40(5):443-448. doi: 10.1080/13816810.2019.1681008. Epub 2019 Oct 25. Ophthalmic Genet. 2019. PMID: 31651202
Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). ...(F742C) in CACNA1F (NM_001256789.2) in all three families, encompassed by a shared haplotypeConclusions: Our data suggests that p …
Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (i …
26 results