Stephen P Daiger: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene IMPDH1 Cause Retina-Specific Photoreceptor Degeneration?

Bowne, Sara J., Liu, Qin, Sullivan, Lori S., Zhu, Jingya, Spellicy, Catherine J., Rickman, Catherine Bowes, Pierce, Eric A., Daiger, Stephen P.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 990 KB

english, 2006

2

Understanding the genetic architecture of human retinal degenerations

Hejtmancik, J. Fielding, Daiger, Stephen P.

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 502 KB

2020

3

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperst

Journal:

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

4

Deletion mapping of polymorphic loci by apparent parental exclusion

Dr. Stephen P. Daiger, Aravinda Chakravarti, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 305 KB

english, 1983

5

Clinical variability and genetic heterogeneity within the Acadian Usher population

Richard J. H. Smith, Mary Z. Pelias, Stephen P. Daiger, Bronya Keats, William Kimberling, J. Fielding Hejtmancik

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 495 KB

english, 1992

6

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis

Li Ni, Michael J. Wagner, William J. Kimberling, Marcus E. Pembrey, Kenneth M. Grundfast, Shrawan Kumar, Stephen P. Daiger, Dan E. Wells, Kristin Johnson, Richard J. H. Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 522 KB

english, 1994

7

Survival of Texas infants born with trisomies 21, 18, and 13

Catherine Vendola, Mark Canfield, Stephen P. Daiger, Michael Gambello, S. Shahrukh Hashmi, Terri King, Sarah J. Noblin, D. Kim Waller, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 102 KB

english, 2010

8

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

Dr. Huda Y. Zoghbi, Marilyn S. Pollack, Leslie A. Lyons, Robert E. Ferrell, Stephen P. Daiger, Arthur L. Beaudet

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 517 KB

english, 1988

9

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

Joseph A. Rodriguez, Carlos A. Herrera, David G. Birch, Stephen P. Daiger

Journal:

Year:

1993

Language:

english

File:

PDF, 716 KB

english, 1993

10

Evolution of nuclear gene families in primates, Copy-number variation in the argininosuccinate synthetase (ASS) pseudogene family and the anonymous DNA sequence, D1S1

Stephen P. Daiger, Maureen E. Goode, Barbara D. Trowbridge

Journal:

Year:

1987

Language:

english

File:

PDF, 628 KB

english, 1987

11

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

Rachel E. McGuire, Alexandra M. Gannon, Lori S. Sullivan, Joseph A. Rodriguez, Stephen P. Daiger

Journal:

Year:

1995

Language:

english

File:

PDF, 344 KB

english, 1995

12

Standardization of nomenclature for transcobalamin II variants

Marijke Fràter-Schröder, Henk J. Porck, Aldur W. Eriksson, Stephen P. Daiger, Luca L. Cavalli-Sforza

Journal:

Year:

1982

Language:

english

File:

PDF, 151 KB

english, 1982

13

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

Ranaiit Chakraborty, Alan S. Lidsky, Stephen P. Daiger, Flemming Güttler, Susan Sullivan, Anthony G. Dilella, Savio L. C. Woo

Journal:

Year:

1987

Language:

english

File:

PDF, 817 KB

english, 1987

14

Human thyroxine-binding globulin (TBG): Heterogeneity within individuals and among individuals demonstrated by isoelectric focusing

Stephen P. Daiger, Robert S. Wildin

Journal:

Biochemical Genetics

Year:

1981

Language:

english

File:

PDF, 593 KB

english, 1981

15

X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG) in baboons and screening of additional primates

David H. Lockwood, Dorian H. Coppenhaver, Robert E. Ferrell, Stephen P. Daiger

Journal:

Biochemical Genetics

Year:

1984

Language:

english

File:

PDF, 372 KB

english, 1984

16

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

Melanie M. Sohocki, Lori S. Sullivan, Dayna L. Tirpak, Stephen P. Daiger

Journal:

Mammalian Genome

Year:

2001

Language:

english

File:

PDF, 399 KB

english, 2001

17

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

Su-Ying Xu, Michael Denton, Lori Sullivan, Stephen P. Daiger, A. Gal

Journal:

Year:

1996

Language:

english

File:

PDF, 44 KB

english, 1996

18

10.1038/10314

Sullivan, Lori S., Heckenlively, John R., Bowne, Sara J., Zuo, Jian, Hide, Winston A., Gal, Andreas, Denton, Michael, Inglehearn, Chris F., Blanton, Susan H., Daiger, Stephen P.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

19

10.1038/71732

Daiger, Stephen P., Sohocki, Melanie M., Bowne, Sara J., Sullivan, Lori S., Blackshaw, Seth, Cepko, Constance L., Payne, Annette M., Bhattacharya, Shomi S., Khaliq, Shagufta, Qasim Mehdi, S., Birch, D

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 989 KB

english, 2000

20

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Köhn, Linda, Bowne, Sara J, S Sullivan, Lori, Daiger, Stephen P, Burstedt, Marie SI, Kadzhaev, Konstantin, Sandgren, Ola, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

21

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

Chen Zhao, Deepti L. Bellur, Shasha Lu, Feng Zhao, Michael A. Grassi, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Li Jia Chen, Chi Pui Pang, Kanxing Zhao, Jonathan P. Staley, Catharina Larsson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 739 KB

english, 2009

22

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

S. Amer Riazuddin, Muhammad Iqbal, Yue Wang, Tomohiro Masuda, Yuhng Chen, Sara Bowne, Lori S. Sullivan, Naushin H. Waseem, Shomi Bhattacharya, Stephen P. Daiger, Kang Zhang, Shaheen N. Khan, Sheikh Ri

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 994 KB

english, 2010

23

590: The influence of race on the rate of abnormal serum screens

Alyssa Knisley, Manju Monga, Terri King, Stephen Daiger, Melissa Strassberg, Jennifer Hoskovec

Journal:

American Journal of Obstetrics and Gynecology

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

24

Localization of Retina/Pineal-Expressed Sequences: Identification of Novel Candidate Genes for Inherited Retinal Disorders

Melanie M. Sohocki, Kimberly A. Malone, Lori S. Sullivan, Stephen P. Daiger

Journal:

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

25

Human Glutamate Pyruvate Transaminase (GPT): Localization to 8q24.3, cDNA and Genomic Sequences, and Polymorphic Sites

Melanie M. Sohocki, Lori S. Sullivan, Wilbur R. Harrison, Erica J. Sodergren, Frederick F.B. Elder, George Weinstock, Sumio Tanase, Stephen P. Daiger

Journal:

Year:

1997

Language:

english

File:

PDF, 307 KB

english, 1997

26

Localization and Characterization of the Human ADP-Ribosylation Factor 5 (ARF5) Gene

Rachel E. McGuire, Stephen P. Daiger, Eric D. Green

Journal:

Year:

1997

Language:

english

File:

PDF, 160 KB

english, 1997

27

Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

Richard W. Yee, Lori S. Sullivan, Hong T. Lai, E.Lee Stock, Yuhun Lu, Mohammed N. Khan, Susan H. Blanton, Stephen P. Daiger

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

28

Familial aggregation of coronary heart disease and its relation to known genetic risk factors

Leo P. ten Kate, Helge Boman, Stephen P. Daiger, Arno G. Motulsky

Journal:

The American Journal of Cardiology

Year:

1982

Language:

english

File:

PDF, 1.30 MB

english, 1982

29

Increased frequency of coronary heart disease in relatives of wives of myocardial infarct survivors: Assortative mating for lifestyle and risk factors?

Leo P. ten Kate, Helge Boman, Stephen P. Daiger, Arno G. Motulsky

Journal:

The American Journal of Cardiology

Year:

1984

Language:

english

File:

PDF, 651 KB

english, 1984

30

Retinal isoforms of inosine 5′-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins

Dong Xu, Garrett Cobb, Catherine J. Spellicy, Sara J. Bowne, Stephen P. Daiger, Lizbeth Hedstrom

Journal:

Archives of Biochemistry and Biophysics

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

31

Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

Petra Kozma, Dianna K. Hughbanks-Wheaton, Kirsten G. Locke, Garry E. Fish, Anisa I. Gire, Catherine J. Spellicy, Lori S. Sullivan, Sara J. Bowne, Stephen P. Daiger, David G. Birch

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 621 KB

english, 2005

32

Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci

Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, Kent Small, Robert E. Ferrell, Stephen P. Daiger

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 69 KB

english, 1997

33

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina

Jonathan E Sears, Thomas A Aaberg Sr, Stephen P Daiger, Darius M Moshfeghi

Journal:

American Journal of Ophthalmology

Year:

2001

Language:

english

File:

PDF, 305 KB

english, 2001

34

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

Lori S Sullivan, Stephen P Daiger

Journal:

Molecular Medicine Today

Year:

1996

Language:

english

File:

PDF, 755 KB

english, 1996

35

A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene

Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, David Birch, John R. Heckenlively, Carol L. Freund, Roderick R. McInnes, Stephen P. Daiger

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 838 KB

english, 1998

36

Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Alan J. Mears, Suja Hiriyanna, Raf Vervoort, Beverly Yashar, Linn Gieser, Stacey Fahrner, Stephen P. Daiger, John R. Heckenlively, Paul A. Sieving, Alan F. Wright, Anand Swaroop

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 864 KB

english, 2000

37

Inherited retinal diseases in humans

Stephen P Daiger

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 72 KB

english, 2000

38

Retina || Genetic Mechanisms of Retinal Disease

Daiger, Stephen P.

Year:

2013

Language:

english

File:

PDF, 526 KB

english, 2013

39

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

Blanton, Susan Halloran, Heckenlively, John R., Cottingham, Anne W., Friedman, Jackie, Sadler, Lori A., Wagner, Michael, Friedman, Lorraine H., Daiger, Stephen P.

Journal:

Year:

1991

Language:

english

File:

PDF, 1.38 MB

english, 1991

40

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: Effect of genotyping errors

Tomfohrde, James, Wood, Stephen, Schertzer, Michael, Wagner, Michael J., Wells, Dan E., Parrish, Julia, Sadler, Lori A., Blanton, Susan H., Daiger, Stephen P., Wang, Zhenyuan, Wilkie, Patricia J., Web

Journal:

Year:

1992

Language:

english

File:

PDF, 835 KB

english, 1992

41

Localization of two genes for usher syndrome type I to chromosome 11

Smith, Richard J.H., Lee, Elizabeth C., Kimberling, William J., Daiger, Stephen P., Pelias, Mary Z., Keats, Bronya J.B., Jay, Marcelle, Bird, Alan, Reardon, William, Guest, Mary

Journal:

Year:

1992

Language:

english

File:

PDF, 775 KB

english, 1992

42

Multilocus linkage analysis with the human argininosuccinate synthetase gene

Northrup, Hope, Lathrop, Mark, Lu, Shu-Ying, Daiger, Stephen P., Beaudet, Arthur L., O'Brien, William E.

Journal:

Year:

1989

Language:

english

File:

PDF, 320 KB

english, 1989

43

Group-Specific Component (Gc) Proteins Bind Vitamin D and 25-hydroxyvitamin D

Stephen P. Daiger, Mel S. Schanfield and L. L. Cavalli-Sforza

Journal:

Proceedings of the National Academy of Sciences

Year:

1975

Language:

english

File:

PDF, 1.20 MB

english, 1975

44

Visual phenotype in patients with Arg41Gln and Ala196+1bp mutations in the CRX gene

Tzekov, Radouil T., Sohocki, Melanie M., Daiger, Stephen P., Birch, David G.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 321 KB

english, 2000

45

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Shankar, Suma P., Fingert, John H., Carelli, Valerio, Valentino, Maria L., King, Terri M., Daiger, Stephen P., Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Braun, Terri A., Sheffield, Va

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 5.84 MB

english, 2008

46

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Churchill, Jennifer D., Bowne, Sara J., Sullivan, Lori S., Lewis, Richard Alan, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Daiger, Stephen P.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

47

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

Köhn, Linda, Kohl, Susanne, Bowne, Sara J, Sullivan, Lori S, Kellner, Ulrich, Daiger, Stephen P, Sandgren, Ola, Golovleva, Irina

Journal:

Ophthalmic Genetics

Year:

2010

Language:

english

File:

PDF, 527 KB

english, 2010

48

Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25

Sullivan, Lori S., Zhao, Xinping, Bowne, Sara J., Xu, Xiangyang, Daiger, Stephen P., Yee, Steven B., Yee, Richard W.

Journal:

Current Eye Research

Year:

2003

Language:

english

File:

PDF, 64 KB

english, 2003

49

Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

Cremers, Frans P.M., den Dunnen, Johan T., Ajmal, Muhammad, Hussain, Alamdar, Preising, Markus N., Daiger, Stephen P., Qamar, Raheel

Journal:

Year:

2014

Language:

english

File:

PDF, 110 KB

english, 2014

50

Dinucleotide repeat polymorphism at the CRH gene

Gu, Jessie, Sadler, Lori, Daiger, Stephen, Wells, Dan, Wagner, Michael

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 84 KB

english, 1993