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Literature citations Results

X-linked ocular albinism: prevalence and mutations -- a national study.

Rosenberg T., Schwartz M.

Eur. J. Hum. Genet. 6:570-577(1998) · UniProtKB (1)

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke A.R., Meins M., Sadeghi M., Grundmann K., Apfelstedt-Sylla E., Zrenner E., Rosenberg T., Gal A.

Hum. Mutat. 13:133-140(1999) · UniProtKB (1)

Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.

Tsang S.H., Woodruff M.L., Jun L., Mahajan V., Yamashita C.K., Pedersen R., Lin C.S., Goff S.P., Rosenberg T., Larsen M. et al.

Hum. Mutat. 28:243-254(2007) · Mapped (7)

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

Hansen L., Comyn S., Mang Y., Lind-Thomsen A., Myhre L., Jean F., Eiberg H., Tommerup N., Rosenberg T., Pilgrim D.

Eur. J. Hum. Genet. 22:1290-1297(2014) · UniProtKB (2) · Mapped (10)

The mutation spectrum of the bestrophin protein -- functional implications.

Bakall B., Marknell T., Ingvast S., Koisti M.J., Sandgren O., Li W., Bergen A.A.B., Andreasson S., Rosenberg T., Petrukhin K. et al.

Hum. Genet. 104:383-389(1999) · UniProtKB (1)

The congenital 'ant-egg' cataract phenotype is caused by a missense mutation in connexin46.

Hansen L., Yao W., Eiberg H., Funding M., Riise R., Kjaer K.W., Hejtmancik J.F., Rosenberg T.

Mol. Vis. 12:1033-1039(2006) · UniProtKB (1) · Mapped (8)

TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies.

Katzke S., Booms P., Tiecke F., Palz M., Pletschacher A., Turkmen S., Neumann L.M., Pregla R., Leitner C., Schramm C. et al.

Hum. Mutat. 20:197-208(2002) · UniProtKB (1)

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert K.P., Vereecke I., Dewinter C., Rosenberg T., Beemer F.A., Leroy J.G., Bendix L., Bjorck E., Bonduelle M., Boute O. et al.

Eur. J. Hum. Genet. 18:872-880(2010) · Mapped (4)

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B., Brox V., Tranebjaerg L., Rosenberg T., Sadeghi A.M., Moeller C., Nilssen O.

Hum. Mutat. 29:451-451(2008) · UniProtKB (2) · Mapped (1)

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R., Rosenberg T., Schultz-Heienbrok R., Lenzner S., Feil S., Roepman R., Cremers F.P.M., Ropers H.-H., Berger W.

Hum. Mol. Genet. 8:1571-1578(1999) · UniProtKB (2) · Mapped (8)

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R., van Duijnhoven G., Rosenberg T., Pinckers A.J.L.G., Bleeker-Wagemakers L.M., Bergen A.A.B., Post J., Beck A., Reinhardt R., Ropers H.-H. et al.

Hum. Mol. Genet. 5:1035-1041(1996) · UniProtKB (1)

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U., Lenzner S., Dong J., Feil S., Hinzmann B., van Duijnhoven G., Kirschner R., Hemberger M., Bergen A.A.B., Rosenberg T. et al.

Nat. Genet. 19:327-332(1998) · UniProtKB (1) · Mapped (1)

PKR Inhibition Rescues Memory Deficit and ATF4 Overexpression in ApoE epsilon4 Human Replacement Mice.

Segev Y., Barrera I., Ounallah-Saad H., Wibrand K., Sporild I., Livne A., Rosenberg T., David O., Mints M., Bramham C.R. et al.

J. Neurosci. 35:12986-12993(2015) · Mapped (27)

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.

Duno M., Schwartz M., Larsen P.L., Rosenberg T.

Ophthalmic Genet. 33:225-231(2012) · Mapped (7)

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

Szabo V., Kreienkamp H.J., Rosenberg T., Gal A.

Hum. Mutat. 28:741-742(2007) · UniProtKB (1)

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Dad S., Rendtorff N.D., Kann E., Albrechtsen A., Mehrjouy M.M., Bak M., Tommerup N., Tranebjaerg L., Rosenberg T., Jensen H. et al.

Eur. J. Hum. Genet. 23:1646-1651(2015) · Mapped (2)

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Adeyemo A., Rotimi C.N., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.

Am. J. Med. Genet. A 146A:517-520(2008) · UniProtKB (1) · Mapped (2)

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Hansen L., Eiberg H., Rosenberg T.

Mol. Vis. 13:2019-2022(2007) · Mapped (4)

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

Rosenberg T., Klie F., Garred P., Schwartz M.

Mol. Vis. 13:1962-1969(2007) · Mapped (7)

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson P.N., Booms P., Katzke S., Ladewig M., Neumann L., Palz M., Pregla R., Tiecke F., Rosenberg T.

Hum. Mutat. 20:153-161(2002) · UniProtKB (1)

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., Wissinger B.

Am. J. Hum. Genet. 71:422-425(2002) · UniProtKB (1) · Mapped (2)

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

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

J. Med. Genet. 47:665-669(2010) · UniProtKB (1) · Mapped (2)

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova C.F., Hims M.M., Bolz H., Abu-Safieh L., Patel R.J., Papaioannou M.G., Inglehearn C.F., Keen T.J., Willis C., Moore A.T. et al.

Hum. Mol. Genet. 11:87-92(2002) · UniProtKB (1) · Mapped (4)

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Groenskov K., Dooley C.M., Oestergaard E., Kelsh R.N., Hansen L., Levesque M.P., Vilhelmsen K., Moellgaard K., Stemple D.L., Rosenberg T.

Am. J. Hum. Genet. 92:415-421(2013) · UniProtKB (1) · Mapped (2)

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Groenskov K., Rosenberg T., Sand A., Broendum-Nielsen K.

Eur. J. Hum. Genet. 7:274-286(1999) · UniProtKB (1)

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