Works matching Dryja, Thaddeus P.

Results: 22

Variation in retinitis pigmentosa-11 ( PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 644, doi. 10.1002/humu.20325

By:

Rivolta, Carlo;
McGee, Terri L.;
Frio, Thomas Rio;
Jensen, Roderick V.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 248, doi. 10.1002/humu.20142

By:

Nishiguchi, Koji M.;
Sandberg, Michael A.;
Gorji, Nasim;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 488, doi. 10.1002/humu.1226

By:

Rivolta, Carlo;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1243

By:

Rivolta, Carlo;
Peck, Naomi E.;
Fulton, Anne B.;
Fishman, Gerald A.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.

Published in:

Genes, 2019, v. 10, n. 11, p. 879, doi. 10.3390/genes10110879

By:

Berry, Jesse L.;
Polski, Ashley;
Cavenee, Webster K.;
Dryja, Thaddeus P.;
Murphree, A. Linn;
Gallie, Brenda L.

Publication type:

Article

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.

Published in:

Nature Genetics, 2008, v. 40, n. 10, p. 1230, doi. 10.1038/ng.223

By:

Hartong, Dyonne T.;
Dange, Mayura;
McGee, Terri L.;
Berson, Eliot L.;
Dryja, Thaddeus P.;
Colman, Roberta F.

Publication type:

Article

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

Published in:

Nature Genetics, 1999, v. 23, n. 4, p. 393, doi. 10.1038/70496

By:

Morimura, Hiroyuki;
Saindelle-Ribeaudeau, Florence;
Berson, Eliot L;
Dryja, Thaddeus P

Publication type:

Article

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Published in:

Nature Genetics, 1999, v. 22, n. 3, p. 248, doi. 10.1038/10305

By:

Pierce, Eric A.;
Quinn, Tracey;
Meehan, Terrence;
McGee, Terri L.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

Published in:

Nature Genetics, 1999, v. 22, n. 2, p. 188, doi. 10.1038/9707

By:

Yamamoto, Hiroyuki;
Simon, András;
Eriksson, Ulf;
Harris, Eddie;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram.

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 3, p. 135, doi. 10.1080/13816810701503681

By:

Thiagalingam, Sureka;
McGee, Terri L.;
Weleber, Richard G.;
Sandberg, Michael A.;
Trzupek, Karmen M.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 3, p. 119, doi. 10.1080/13816810500229090

By:

Schatz, Patrik;
Ponjavic, Vesna;
Andréasson, Sten;
McGee, Terri L.;
Dryja, Thaddeus P.;
Abrahamson, Magnus

Publication type:

Article

Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 2, p. 91, doi. 10.1080/13816810590968032

By:

Ben-Arie-Weintrob, Yael;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 583, doi. 10.1093/hmg/12.5.583

By:

Rivolta, Carlo;
Sharon, Dror;
DeAngelis, Margaret M.;
Dryja, Thaddeus P.

Publication type:

Article

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 10, p. 1219, doi. 10.1093/hmg/11.10.1219

By:

Rivolta, Carlo;
Sharon, Dror;
DeAngelis, Margaret M.;
Dryja, Thaddeus P.

Publication type:

Article

Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open‐Angle Glaucoma.

Published in:

Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 4, p. 874, doi. 10.1002/cpt.1490

By:

Wang, Shirley V.;
Li, Ning;
Rice, Dennis S.;
Grosskreutz, Cynthia L.;
Dryja, Thaddeus P.;
Prasanna, Ganesh;
Lii, Joyce;
Gagne, Joshua J.

Publication type:

Article

Complement Proteins in the Retina in Cancer-Associated Retinopathy.

Published in:

2019

By:

Dryja, Thaddeus P.;
Demirs, John T.;
Twarog, Michael;
Lee, Vivian

Publication type:

journal article

Early Insight Into Neovascular Age-Related Macular Degeneration.

Published in:

2016

By:

Dryja, Thaddeus P.

Publication type:

journal article

Molecular Genetics of Intraocular Tumors.

Published in:

2020

By:

Hanbazazh, Mehenaz;
Dryja, Thaddeus P.

Publication type:

journal article

A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma.

Published in:

2019

By:

Cortes Barrantes, Paula;
Jakobiec, Frederick A.;
Dryja, Thaddeus P.

Publication type:

journal article

A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases.

Published in:

2019

By:

Ma, Lina;
Jakobiec, Frederick A.;
Dryja, Thaddeus P.

Publication type:

journal article

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Published in:

Nature, 2004, v. 427, n. 6969, p. 75, doi. 10.1038/nature02170

By:

Nislilguchi, Koji M.;
Sandbag, Michael A.;
Kooijman, Aart C.;
Martemyanov, Kirill A.;
Pott, Jan W. R.;
Hagstrom, Stephanie A.;
Arshavsky, Vadim Y.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1

By:

Fujita, Tsuyoshi;
Ohtani-Fujita, Naoko;
Sakai, Toshiyuki;
Rapaport, Joyce M.;
Dryja, Thaddeus P.;
Kato, Mitsuo V.;
Ishizaki, Kanji;
Sasaki, Masao S.;
Hotta, Yoshihiro;
Maeda, Koshi;
Kinoshita, Shigeru;
Ohnishi, Yoshitaka;
Minoda, Kensei

Publication type:

Article