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Items: 1 to 20 of 176

1.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.

Am J Hum Genet. 2002 Jan;70(1):224-9. Epub 2001 Nov 27.

3.

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J.

Clin Genet. 2009 Dec;76(6):552-7. doi: 10.1111/j.1399-0004.2009.01242.x. Epub 2009 Oct 6.

PMID:
19807744
4.

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9.

PMID:
11095629
5.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D.

Nat Genet. 2000 Nov;26(3):270-1.

PMID:
11062461
6.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA.

Clin Exp Dermatol. 2005 Jan;30(1):71-4.

PMID:
15663509
7.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
8.

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.

Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.

9.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.

10.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PMID:
17301963
11.

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.

12.

Perinatal hypophosphatasia caused by uniparental isodisomy.

Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.

Bone. 2014 Mar;60:93-7. doi: 10.1016/j.bone.2013.12.009. Epub 2013 Dec 12.

PMID:
24334170
13.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.

Am J Med Genet A. 2006 May 1;140(9):1004-9.

PMID:
16575891
14.
15.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.

Mol Vis. 2007 Jan 26;13:96-101.

16.

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M.

Hum Mutat. 2002 Dec;20(6):447-51.

PMID:
12442268
17.

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

Tschernutter M, Jenkins SA, Waseem NH, Saihan Z, Holder GE, Bird AC, Bhattacharya SS, Ali RR, Webster AR.

Br J Ophthalmol. 2006 Jun;90(6):718-23.

18.

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.

Schejbel L, Schmidt IM, Kirchhoff M, Andersen CB, Marquart HV, Zipfel P, Garred P.

Genes Immun. 2011 Mar;12(2):90-9. doi: 10.1038/gene.2010.63. Epub 2011 Jan 27.

PMID:
21270828
19.

Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.

Ou X, Liu C, Chen S, Yu J, Zhang Y, Liu S, Sun H.

Transfusion. 2013 Jun;53(6):1266-9. doi: 10.1111/j.1537-2995.2012.03863.x. Epub 2012 Aug 23.

PMID:
22924962
20.

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.

Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T.

Mol Vis. 2011;17:1485-92. Epub 2011 Jun 4.

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