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1

Sweat Gland Tumors in the Eyelids: A Clinicopathological Analysis of 55 Cases

NI, CHUO, DRYJA, THADDEUS P., ALBERT, DANIEL M.

Journal:

International Ophthalmology Clinics

Year:

1982

File:

PDF, 890 KB

1982

2

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 254 KB

english, 2001

3

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

Friend, Stephen H., Bernards, Rene, Rogelj, Snezna, Weinberg, Robert A., Rapaport, Joyce M., Albert, Daniel M., Dryja, Thaddeus P.

Journal:

Year:

1986

File:

PDF, 526 KB

1986

4

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Babak Jian Seyedahmadi, Carlo Rivolta, Julia A. Keene, Eliot L. Berson, Thaddeus P. Dryja

Journal:

Experimental Eye Research

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

5

Retinitis pigmentosa

Dyonne T Hartong, Eliot L Berson, Thaddeus P Dryja

Journal:

Year:

2006

Language:

english

File:

PDF, 359 KB

english, 2006

6

Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa

Olsson, Jane E., Gordon, Jon W., Pawlyk, Basil S., Roof, Dorothy, Hayes, Annmarie, Molday, Robert S., Mukai, Shizuo, Cowley, Glenn S., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Year:

1992

Language:

english

File:

PDF, 26.27 MB

english, 1992

7

Mutations in the RPE65 Gene in Patients with Autosomal Recessive Retinitis Pigmentosa or Leber Congenital Amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep A. Grover, Anne B. Fulton, Eliot L. Berson and Thaddeus P. Dryja

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.29 MB

english, 1998

8

Oncogenes and Tumor-Suppressing Genes

Flier, Jeffrey S., Underhill, Lisa H., Friend, Stephen H., Dryja, Thaddeus P., Weinberg, Robert A.

Journal:

Boston Medical and Surgical Journal

Year:

1988

Language:

english

File:

PDF, 915 KB

english, 1988

9

Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling

Yandell, David W., Campbell, Tracey A., Dayton, Siri H., Petersen, Robert, Walton, David, Little, John B., McConkie-Rosell, Allyn, Buckley, Edward G., Dryja, Thaddeus P.

Journal:

Boston Medical and Surgical Journal

Year:

1989

Language:

english

File:

PDF, 4.66 MB

english, 1989

10

A Homozygous Missense Mutation in the IRBP Gene ( RBP3 ) Associated with Autosomal Recessive Retinitis Pigmentosa

den Hollander, Anneke I., McGee, Terri L., Ziviello, Carmela, Banfi, Sandro, Dryja, Thaddeus P., Gonzalez-Fernandez, Federico, Ghosh, Debashis, Berson, Eliot L.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 958 KB

english, 2009

11

Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections

Wolkow, Natalie, Jakobiec, Frederick A., Dryja, Thaddeus P., Lefebvre, Daniel R.

Journal:

Ophthalmic Plastic & Reconstructive Surgery

Year:

2018

Language:

english

File:

PDF, 336 KB

english, 2018

12

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

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

Journal:

Year:

1999

Language:

english

File:

PDF, 81 KB

english, 1999

13

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

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

Journal:

Year:

2001

Language:

english

File:

PDF, 31 KB

english, 2001

14

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

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

Journal:

Year:

2005

Language:

english

File:

PDF, 326 KB

english, 2005

15

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

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

Journal:

Year:

2006

Language:

english

File:

PDF, 271 KB

english, 2006

16

RB1 genetic testing as a clinical service: A follow-up study

Jennifer G. Cohen, Thaddeus P. Dryja, Katherine B. Davis, Lisa R. Diller, Frederick P. Li

Journal:

Pediatric Blood & Cancer

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

17

Unbiased transmission of mutant alleles at the human retinoblastoma locus

Stephanie B. Seminara, Thaddeus P. Dryja

Journal:

Year:

1994

Language:

english

File:

PDF, 429 KB

english, 1994

18

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in theRDH5gene

Alessandro Iannaccone, Salvatore A. Tedesco, Kevin T. Gallaher, Hiroyuki Yamamoto, Steve Charles, Thaddeus P. Dryja

Journal:

Documenta Ophthalmologica

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

19

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes

Manal Hajali, Gerald A. Fishman, Thaddeus P. Dryja, Meredith O. Sweeney, Martin Lindeman

Journal:

Documenta Ophthalmologica

Year:

2009

Language:

english

File:

PDF, 324 KB

english, 2009

20

10.1038/10305

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

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 632 KB

english, 1999

21

Parental origin of mutations of the retinoblastoma gene

Dryja, Thaddeus P., Mukai, Shizuo, Petersen, Robert, Rapaport, Joyce M., Walton, David, Yandell, David W.

Journal:

Year:

1989

File:

PDF, 389 KB

1989

22

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Dryja, Thaddeus P., McGee, Terri L., Reichel, Elias, Hahn, Lauri B., Cowley, Glenn S., Yandell, David W., Sandberg, Michael A., Berson, Eliot L.

Journal:

Year:

1990

File:

PDF, 384 KB

1990

23

Deficiencies in sight with the candidate gene approach

Dryja, Thaddeus P.

Journal:

Year:

1990

File:

PDF, 154 KB

1990

24

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

Sakai, Toshiyuki, Ohtani, Naoko, McGee, Terri L., Robbins, Paul D., Dryja, Thaddeus P.

Journal:

Year:

1991

File:

PDF, 808 KB

1991

25

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Kajiwara, Kazuto, Hahn, Lauri B., Mukai, Shizuo, Travis, Gabriel H., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Year:

1991

File:

PDF, 561 KB

1991

26

10.1038/70499

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

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

27

10.1038/70496

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

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 291 KB

english, 1999

28

10.1038/9707

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

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

29

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

30

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

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

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 308 KB

english, 2008

31

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

Yamamoto, Shuji, Sippel, Kimberly C., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 593 KB

1997

32

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

North, Michael A., Nishina, Patsy M., Berson, Eliot L., Dryja, Thaddeus P., Hagstrom, Stephanie A.

Journal:

Nature Genetics

Year:

1998

File:

PDF, 369 KB

1998

33

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Kajiwara, Kazuto, Sandberg, Michael A., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 590 KB

1993

34

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

Rosenfeld, Philip J., Cowley, Glenn S., McGee, Terri L., Sandberg, Michael A., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Nature Genetics

Year:

1992

File:

PDF, 573 KB

1992

35

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

McLaughlin, Margaret E., Sandberg, Michael A., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 579 KB

1993

36

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

Dryja, Thaddeus P., Berson, Eliot L., Rao, Vikram R., Oprian, Daniel D.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 367 KB

1993

37

Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Dryja, Thaddeus P., Hahn, Lauri B., Reboul, Thierry, Arnaud, Bernard

Journal:

Nature Genetics

Year:

1996

File:

PDF, 342 KB

1996

38

Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

Huang, Sherleen H., Pittler, Steven J., Huang, Xizhong, Oliveira, Luanne, Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 489 KB

1995

39

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma

Naoko Ohtani-Fujita, Thaddeus P Dryja, Joyce M Rapaport, Tsuyoshi Fujita, Satoshi Matsumura, Kotaro Ozasa, Yoshiyuki Watanabe, Kyohei Hayashi, Koshi Maeda, Shigeru Kinoshita, Takafumi Matsumura, Yoshi

Journal:

Cancer Genetics and Cytogenetics

Year:

1997

Language:

english

File:

PDF, 645 KB

english, 1997

40

Evaluation of the Rhodopsin Kinase Gene in Patients with Retinitis Pigmentosa

SHUJI YAMAMOTO, SHAHROKH C KHANI, ELIOT L BERSON, THADDEUS P DRYJA

Journal:

Experimental Eye Research

Year:

1997

Language:

english

File:

PDF, 243 KB

english, 1997

41

Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type I

Amitabh K Bharadwaj, Joseph P Kasztejna, Syed Huq, Eliot L Berson, Thaddeus P Dryja

Journal:

Experimental Eye Research

Year:

2000

Language:

english

File:

PDF, 152 KB

english, 2000

42

Complete Genomic Sequence of the Human Retinoblastoma Susceptibility Gene

Junya Toguchida, Terri L. McGee, Jennifer C. Paterson, Janine R. Eagle, Stephanie Tucker, David W. Yandell, Thaddeus P. Dryja

Journal:

Year:

1993

File:

PDF, 541 KB

1993

43

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Rajani Vaithinathan, Eliot L. Berson, Thaddeus P. Dryja

Journal:

Year:

1994

File:

PDF, 158 KB

1994

44

Nonallelic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa with Incomplete Penetrance

Stella K. Kim, Jonathan L. Haines, Eliot L. Betson, Thaddeus P. Dryja

Journal:

Year:

1994

File:

PDF, 73 KB

1994

45

Characterization and Chromosomal Localization of the Gene for Human Rhodopsin Kinase

Shahrokh C. Khani, Marc Abitbol, Shuji Yamamoto, Ivana Maravic-Magovcevic, Thaddeus P. Dryja

Journal:

Year:

1996

Language:

english

File:

PDF, 204 KB

english, 1996

46

Presence of cysteinyldopa in the mature bovine eye

Thaddeus P. Dryja, Daniel M. Albert, Ewald Rosengren, Ted W. Reid

Journal:

Experimental Eye Research

Year:

1977

Language:

english

File:

PDF, 462 KB

english, 1977

47

Glial cell component in retinoblastoma

Joseph L. Craft, Delia N. Sang, Thaddeus P. Dryja, Robert J. Brockhurst, Nancy L. Robinson, Daniel M. Albert

Journal:

Experimental Eye Research

Year:

1985

Language:

english

File:

PDF, 21.22 MB

english, 1985

48

Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA

Paul R. Cotran, Peter J. Ringens, John W. Crabb, Eliot L. Berson, Thaddeus P. Dryja

Journal:

Experimental Eye Research

Year:

1990

Language:

english

File:

PDF, 539 KB

english, 1990

49

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

Paul R. Cotran, Gail A.P. Bruns, Eliot L. Berson, Thaddeus P. Dryja

Journal:

Experimental Eye Research

Year:

1991

Language:

english

File:

PDF, 1.43 MB

english, 1991

50

Mapping of the human cone transducin α-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

Ivana Magovcevic, Stanislawa Weremowicz, Cynthia C. Morton, Shao-Ling Fong, Eliot L. Berson, Thaddeus P. Dryja

Journal:

Year:

1995

Language:

english

File:

PDF, 304 KB

english, 1995

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