Darryl Y Nishimura: search on Z-Library

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1

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Mykytyn, Kirk, Nishimura, Darryl Y., Searby, Charles C., Shastri, Mythreyi, Yen, Hsan-jan, Beck, John S., Braun, Terry, Streb, Luan M., Cornier, Alberto S., Cox, Gerald F., Fulton, Anne B., Carmi, Riv

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 156 KB

english, 2002

2

Bardet-Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Journal:

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

3

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Hsu, Ying, Garrison, Janelle E., Kim, Gunhee, Schmitz, Addison R., Searby, Charles C., Zhang, Qihong, Datta, Poppy, Nishimura, Darryl Y., Seo, Seongjin, Sheffield, Val C., Barsh, Gregory S.

Journal:

Year:

2017

Language:

english

File:

PDF, 106.70 MB

english, 2017

4

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.05 MB

english, 2005

5

10.1038/493

Nishimura, Darryl Y., Swiderski, Ruth E., Alward, Wallace L. M., Searby, Charles C., Patil, Shivanand R., Bennet, Steven R., Kanis, Adam B., Gastier, Julie M., Stone, Edwin M., Sheffield, Val C.

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 354 KB

english, 1998

6

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie P. Chiang, Darryl Nishimura, Charles Searby, Khalil Elbedour, Rivka Carmi, Amanda L. Ferguson, Jenifer Secrist, Terry Braun, Thomas Casavant, Edwin M. Stone, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.48 MB

english, 2004

7

GraphicConverter 3.9.1

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 381 KB

english, 2000

8

Molecular Genetics of Glaucoma

Camras, Carl, Alward, Wallace L. M., Johnson, A. Tim, Nishimura, Darryl Y., Sheffield, Val C., Stone, Edwin M.

Journal:

Journal of Glaucoma

Year:

1996

File:

PDF, 795 KB

1996

9

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

Kanis, Adam B., Al-Rajhi, Ali A., Taylor, Christine M., Mathers, William D., Folberg, Robert, Nishimura, Darryl Y., Sheffield, Val C., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

10

Reference Manager 9.5

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2001

Language:

english

File:

PDF, 921 KB

english, 2001

11

Book Reviews

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

12

10.1038/9722

Stone, Edwin M., Munier, Francis L., Sheffield, Val C., Lotery, Andrew J., Héon, Elise, Piguet, Bertrand, Guymer, Robyn H., Vandenburgh, Kimberlie, Cousin, Pascal, Nishimura, Darryl, Swiderski, Ruth E

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 596 KB

english, 1999

13

Phenotypic expression of Bardet–Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

Cox, Kyle F., Kerr, Natalie C., Kedrov, Marina, Nishimura, Darryl, Jennings, Barbara J., Stone, Edwin M., Sheffield, Val C., Iannaccone, Alessandro

Journal:

Vision Research

Year:

2012

Language:

english

File:

PDF, 1.64 MB

english, 2012

14

Editor’s Page

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 40 KB

english, 2000

15

ACDSee 1.0

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2001

Language:

english

File:

PDF, 429 KB

english, 2001

16

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

Pretorius, Pamela R., Baye, Lisa M., Nishimura, Darryl Y., Searby, Charles C., Bugge, Kevin, Yang, Baoli, Mullins, Robert F., Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C., Ikeda, Akihiro

Journal:

Year:

2010

Language:

english

File:

PDF, 1.94 MB

english, 2010

17

Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion

Victor Martinez-Glez, Isabel Lorda-Sanchez, Jose Manuel Ramirez, Pedro Ruiz-Barnes, Marta Rodriguez de Alba, Dan Diego-Alvarez, Carmen Ramos, Charles C. Searby, Darryl Y. Nishimura, Carmen Ayuso

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

18

Book Reviews

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 58 KB

english, 2000

19

Build Your Own Map

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

File:

PDF, 92 KB

2000

20

Editor's Page

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 38 KB

english, 2000

21

Ubiquinol Supplementation of Donor Tissue Enhances Corneal Endothelial Cell Mitochondrial Respiration

Skeie, Jessica M., Aldrich, Benjamin T., Nishimura, Darryl Y., Schmidt, Gregory A., Zimmerman, M. Bridget, Ling, Jennifer J., Naguib, Youssef W., Salem, Aliasger K., Greiner, Mark A.

Journal:

Year:

2020

File:

PDF, 251 KB

2020

22

The molecular genetics of Bardet–Biedl syndrome

Val C Sheffield, Darryl Nishimura, Edwin M Stone

Journal:

Current Opinion in Genetics & Development

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

23

EndNote 4.0

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

File:

PDF, 243 KB

2000

24

Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects

Ruth E. Swiderski, Rebecca S. Reiter, Darryl Y. Nishimura, Wallace L.M. Alward, Jeffrey W. Kalenak, Charles S. Searby, Edwin M. Stone, Val C. Sheffield, Jim Jung-Ching Lin

Journal:

Developmental Dynamics

Year:

1999

Language:

english

File:

PDF, 1.46 MB

english, 1999

25

ChromaTool 1.0

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 247 KB

english, 2000

26

Editor's Page

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2001

Language:

english

File:

PDF, 38 KB

english, 2001

27

Linkage localization of Börjeson-Forssman-Lehmann syndrome

Katherine D. Mathews, Holly H. Ardinger, Darryl Y. Nishimura, Kenneth H. Buetow, Jeffrey C. Murray, James A. Bartley

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 468 KB

english, 1989

28

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

Sapp, Julie C, Nishimura, Darryl, Johnston, Jennifer J, Stone, Edwin M, Héon, Elise, Sheffield, Val C, Biesecker, Leslie G

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

29

Book Reviews

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 68 KB

english, 2000

30

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome

Williams, Corey L., Uytingco, Cedric R., Green, Warren W., McIntyre, Jeremy C., Ukhanov, Kirill, Zimmerman, Arthur D., Shively, Dana T., Zhang, Lian, Nishimura, Darryl Y., Sheffield, Val C., Martens,

Journal:

Molecular Therapy

Year:

2017

Language:

english

File:

PDF, 3.81 MB

english, 2017

31

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

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Adebowale Adeyemo, Charles N. Rotimi, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 182 KB

english, 2008

32

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Darryl Y. Nishimura, Lisa M. Baye, Rahat Perveen, Charles C. Searby, Almudena Avila-Fernandez, Ines Pereiro, Carmen Ayuso, Diana Valverde, Paul N. Bishop, Forbes D.C. Manson, Jill Urquhart, Edwin M. S

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.40 MB

english, 2010

33

BioCarta

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2001

Language:

english

File:

PDF, 499 KB

english, 2001

34

A family with Axenfeld–Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

Robert A Honkanen, Darryl Y Nishimura, Ruth E Swiderski, Steven R Bennett, Sungpyo Hong, Young H Kwon, Edwin M Stone, Val C Sheffield, Wallace L.M Alward

Journal:

American Journal of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 410 KB

english, 2003

35

Progeny2000 Desktop and Navigator

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 209 KB

english, 2000

36

Progeny2000 Desktop and Navigator

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

File:

PDF, 209 KB

2000

37

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

Rahmouni, Kamal, Fath, Melissa A., Seo, Seongjin, Thedens, Daniel R., Berry, Christopher J., Weiss, Robert, Nishimura, Darryl Y., Sheffield, Val C.

Journal:

Journal of Clinical Investigation

Year:

2008

File:

PDF, 1.06 MB

2008

38

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

Sheffield, Val C., Kraiem, Zaki, Beck, John C., Nishimura, Darryl, Stone, Edwin M., Salameh, Muhamad, Sadeh, Orit, Glaser, Benjamin

Journal:

Nature Genetics

Year:

1996

File:

PDF, 612 KB

1996

39

Sequencher 3.1.1

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 323 KB

english, 2000

40

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobs

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 619 KB

english, 2003

41

Editor's Page

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

42

Novel approaches to linkage mapping

Val C Sheffield, Darryl Y Nishimura, Edwin M Stone

Journal:

Current Opinion in Genetics & Development

Year:

1995

Language:

english

File:

PDF, 572 KB

english, 1995

43

The CEPH consortium linkage map of human chromosome 1

Dracopoli, Nicholas C., O'Connell, Peter, Elsner, Tami I., Lalouel, Jean-Marc, White, Raymond L., Buetow, Kenneth H., Nishimura, Darryl Y., Murray, Jeffrey C., Helms, Cynthia, Mishra, Santosh K.

Journal:

Year:

1991

Language:

english

File:

PDF, 1.54 MB

english, 1991

44

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Darryl Y. Nishimura, Charles C. Searby, Wallace L. Alward, David Walton, Jamie E. Craig, David A. Mackey, Kazuhide Kawase, Adam B. Kanis, Shivanand R. Patil, Edwin M. Stone, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 653 KB

english, 2001

45

PubCrawler

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2000

Language:

english

File:

PDF, 103 KB

english, 2000

46

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

Rahmouni, Kamal, Fath, Melissa A., Seo, Seongjin, Thedens, Daniel R., Berry, Christopher J., Weiss, Robert, Nishimura, Darryl Y., Sheffield, Val C.

Journal:

Journal of Clinical Investigation

Year:

2008

Language:

english

File:

PDF, 1.06 MB

english, 2008

47

The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

Guo, Deng-Fu, Cui, Huxing, Zhang, Qihong, Morgan, Donald A., Thedens, Daniel R., Nishimura, Darryl, Grobe, Justin L., Sheffield, Val C., Rahmouni, Kamal, Héon, Elise

Journal:

Year:

2016

Language:

english

File:

PDF, 9.56 MB

english, 2016

48

Book Reviews

Nishimura, Darryl

Journal:

Biotech Software & Internet Report

Year:

2001

Language:

english

File:

PDF, 67 KB

english, 2001

49

Visual Cloning 3.0

Darryl Nishimura

Journal:

Year:

2004

Language:

english

File:

PDF, 48 KB

english, 2004

50

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Qihong Zhang, Darryl Nishimura, Seongjin Seo, Tim Vogel, Donald A. Morgan, Charles Searby, Kevin Bugge, Edwin M. Stone, Kamal Rahmouni and Val C. Sheffield

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.77 MB

english, 2011

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