Val Sheffield: search on Z-Library

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1

A 30-Mile-per-Hour Headwind

Sheffield, Val C.

Journal:

JAMA The Journal of the American Medical Association

Year:

2018

Language:

english

File:

PDF, 43 KB

english, 2018

2

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

Arafat, Maram, Harlev, Avi, Har-Vardi, Iris, Levitas, Eliahu, Priel, Tsvia, Gershoni, Moran, Searby, Charles, Sheffield, Val C, Lunenfeld, Eitan, Parvari, Ruti

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 5.56 MB

2020

3

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

4

Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene ( GLC1A )

Alward, Wallace L.M., Fingert, John H., Coote, Michael A., Johnson, A. Tim, Lerner, S. Fabian, Junqua, Denise, Durcan, Fiona J., McCartney, Paul J., Mackey, David A., Sheffield, Val C., Stone, Edwin M

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

5

TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice

Drack, Arlene V., Dumitrescu, Alina V., Bhattarai, Sajag, Gratie, Daniel, Stone, Edwin M., Mullins, Robert, Sheffield, Val C.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2012

Language:

english

File:

PDF, 3.92 MB

english, 2012

6

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations

Colleen Campbell, Robert A. Cucci, Sai Prasad, Glenn E. Green, J. Bradley Edeal, Chad E. Galer, Lawrence P. Karniski, Val C. Sheffield, Richard J.H. Smith

Journal:

Year:

2001

Language:

english

File:

PDF, 254 KB

english, 2001

7

Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot

William Shyy, Frederick Dietz, Matthew B. Dobbs, Val C. Sheffield, Jose A. Morcuende

Journal:

Clinical Orthopaedics and Related Research®

Year:

2009

Language:

english

File:

PDF, 146 KB

english, 2009

8

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

9

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

10

Evaluation of FOXP2 as an autism susceptibility gene

Thomas H. Wassink, Joseph Piven, Veronica J. Vieland, Jennifer Pietila, Rhinda J. Goedken, Susan E. Folstein, Val C. Sheffield

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

11

Genome-wide identification of pseudogenes capable of disease-causing gene conversion

Jared M. Bischof, Annie P. Chiang, Todd E. Scheetz, Edwin M. Stone, Thomas L. Casavant, Val C. Sheffield, Terry A. Braun

Journal:

Year:

2006

Language:

english

File:

PDF, 238 KB

english, 2006

12

Allelic Variants of Human Melatonin 1A Receptor in Patients with Familial Adolescent Idiopathic Scoliosis

Morcuende, Jose A., Minhas, Raman, Dolan, Lori, Stevens, Jeff, Beck, John, Wang, Kai, Weinstein, Stuart L., Sheffield, Val

Journal:

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003

13

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

Manjunath Nimmakayalu, Heather Major, Val Sheffield, Donald H. Solomon, Richard J. Smith, Shivanand R. Patil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 288 KB

english, 2011

14

A high-density microsatellite map of the ataxia-telangiectasia locus

Lina Vanagaite, Michael R. James, Galit Rotman, Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Yael Ziv, Vitalia Uchenik, Adam Sartiel, Francis S. Collins, Val C. Sheffield, Charles W. Richard, Jea

Journal:

Year:

1995

Language:

english

File:

PDF, 283 KB

english, 1995

15

Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism

Thomas H. Wassink, Molly Losh, Joseph Piven, Val C. Sheffield, Elizabeth Ashley, Erik R. Westin, Shivanand R. Patil

Journal:

Journal of Autism and Developmental Disorders

Year:

2007

Language:

english

File:

PDF, 133 KB

english, 2007

16

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

17

Development of a Screening Set for New (CAG/CTG)nDynamic Mutations

Julie M. Gastier, Thomas Brody, Jacqueline C. Pulido, Thomas Businga, Sara Sunden, Xintong Hu, Shanak Maitra, Kenneth H. Buetow, Jeffrey C. Murray, Val C. Sheffield, Mark Boguski, Geoffrey M. Duyk, Th

Journal:

Year:

1996

Language:

english

File:

PDF, 248 KB

english, 1996

18

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

19

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

Fingert, John H., Grassi, Michael A., Janutka, Josesph C., East, Jade S., Howard, James G., Sheffield, Val C., Jacobson, Dan M., Hayreh, Sohan S., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 171 KB

english, 2007

20

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

Piguet, Bertrand, Héon, Elise, Munier, Frasncis L., Grounauer, Pierre Alain, Niemeyer, Gunter, Butler, Noah, Schorderet, Daniel F., Sheffield, Val C., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Year:

1996

Language:

english

File:

PDF, 2.46 MB

english, 1996

21

Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures

Kawasaki, Makiri, Izu, Yayoi, Hayata, Tadayoshi, Ideno, Hisashi, Nifuji, Akira, Sheffield, Val C., Ezura, Yoichi, Noda, Masaki

Journal:

Year:

2016

Language:

english

File:

PDF, 1.69 MB

english, 2016

22

A case of autism and uniparental disomy of chromosome 1

Thomas H. Wassink, Molly Losh, Rebecca S. Frantz, Veronica J. Vieland, Rhinda Goedken, Joseph Piven, Val C. Sheffield

Journal:

Year:

2005

Language:

english

File:

PDF, 392 KB

english, 2005

23

10.1038/3798

Stone, Edwin M., Webster, Andrew R., Vandenburgh, Kimberlie, Streb, Luan M., Hockey, Robin R., Lotery, Andrew J., Sheffield, Val C.

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

24

Familial Cavitary Optic Disk Anomalies: Identification of a Novel Genetic Locus

John H. Fingert, Robert A. Honkanen, Suma P. Shankar, Louisa M. Affatigato, Mary A. Ehlinger, Michael D. Moore, Lee M. Jampol, Val C. Sheffield, Edwin M. Stone, Wallace L.M. Alward

Journal:

American Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 878 KB

english, 2007

25

Use of isolated inbred human populations for identification of disease genes

Val C Sheffield, Edwin M Stone, Rivka Carmi

Journal:

Trends in Genetics

Year:

1998

Language:

english

File:

PDF, 607 KB

english, 1998

26

Subretinal Gene Therapy of Mice With Bardet-Biedl Syndrome Type 1

Seo, Seongjin, Mullins, Robert F., Dumitrescu, Alina V., Bhattarai, Sajag, Gratie, Daniel, Wang, Kai, Stone, Edwin M., Sheffield, Val, Drack, Arlene V.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 1.72 MB

english, 2013

27

Absence of BBSome function leads to astrocyte reactivity in the brain

Singh, Minati, Garrison, Janelle E., Wang, Kai, Sheffield, Val C.

Journal:

Molecular Brain

Year:

2019

Language:

english

File:

PDF, 8.26 MB

english, 2019

28

Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene

Lea K. Davis, Heather C. Hazlett, Amy L. Librant, Peggy Nopoulos, Val C. Sheffield, Joesph Piven, Thomas H. Wassink

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 111 KB

english, 2008

29

Reply to Buddles et al.

Val C. Sheffield, Lihua Ying, Rivka Carmi, Daniel Landau

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

30

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

Seo, Seongjin, Zhang, Qihong, Bugge, Kevin, Breslow, David K., Searby, Charles C., Nachury, Maxence V., Sheffield, Val C., Barsh, Gregory S.

Journal:

Year:

2011

Language:

english

File:

PDF, 6.18 MB

english, 2011

31

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular non-compaction

Muhammad, Emad, Levitas, Aviva, Singh, Sonia R., Braiman, Alex, Ofir, Rivka, Etzion, Sharon, Sheffield, Val C., Etzion, Yoram, Carrier, Lucie, Parvari, Ruti

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.35 MB

english, 2015

32

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

33

Rat, Mouse, and Primate Models of Chronic Glaucoma Show Sustained Elevation of Extracellular ATP and Altered Purinergic Signaling in the Posterior Eye

Lu, Wennan, Hu, HuiLing, Sévigny, Jean, Gabelt, B'Ann T., Kaufman, Paul L., Johnson, Elaine C., Morrison, John C., Zode, Gulab S., Sheffield, Val C., Zhang, Xiulan, Laties, Alan M., Mitchell, Claire H

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

34

Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper

Falls-Hubert, Kelly C., Butler, Aimee L., Gui, Kai, Anderson, Michael, Li, Mengshi, Stolwijk, Jeffrey M., Rodman, Samuel N., Solst, Shane R., Tomanek-Chalkley, Ann, Searby, Charles C., Sheffield, Val

Journal:

Free Radical Biology and Medicine

Year:

2020

File:

PDF, 3.64 MB

2020

35

Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis

Hanna Shalev, Anat Mishori-Dery, Joseph Kapelushnik, Asher Moser, Val C. Sheffield, Ann McClain, Rivka Carmi

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 57 KB

english, 2001

36

Integrated human genome–wide maps constructed using the CEPH reference panel

Buetow, Kenneth H., Weber, James L., Ludwigsen, Susan, Scherpbier-Heddema, Titia, Duyk, Geoffrey M., Sheffield, Val C., Wang, Zhenyuan, Murray, Jeffrey C.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 290 KB

1994

37

Myocilin Glaucoma

John H Fingert, Edwin M Stone, Val C Sheffield, Wallace L.M Alward

Journal:

Survey of Ophthalmology

Year:

2002

Language:

english

File:

PDF, 183 KB

english, 2002

38

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

39

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

LAM, BYRON L., VANDENBURGH, KIMBERLIE, SHEFFIELD, VAL C., STONE, EDWIN M.

Journal:

American Journal of Ophthalmology

Year:

1995

Language:

english

File:

PDF, 2.13 MB

english, 1995

40

Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo

Zhu, Wei, Gramlich, Oliver W., Laboissonniere, Lauren, Jain, Ankur, Sheffield, Val C., Trimarchi, Jeffrey M., Tucker, Budd A., Kuehn, Markus H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2016

Language:

english

File:

PDF, 1.65 MB

english, 2016

41

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

42

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

Sheffield, Val C., Stone, Edwin M., Alward, Wallace L.M., Drack, Arlene V., Johnson, A. Tim, Streb, Luan M., Nichols, Brian E.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 571 KB

1993

43

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

Val C. Sheffield, John S. Beck, Anne E. Kwitek, Dirk W. Sandstrom, Edwin M. Stone

Journal:

Year:

1993

File:

PDF, 653 KB

1993

44

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

45

Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

Alessandro Iannaccone, Kirk Mykytyn, Antonio M. Persico, Charles C. Searby, Alfonso Baldi, Monica M. Jablonski, Val C. Sheffield

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

46

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, Esther Manor, Val C. Sheffield, Micha Aviram, Ruti Parvari

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 940 KB

english, 2011

47

The Cloning and Developmental Expression of Unconventional Myosin IXA (MYO9A) a Gene in the Bardet–Biedl Syndrome (BBS4) Region at Chromosome 15q22–q23

Susan W. Gorman, Neena B. Haider, Uta Grieshammer, Ruth E. Swiderski, Esther Kim, Juliet W. Welch, Charles Searby, Song Leng, Rivka Carmi, Val C. Sheffield, David M. Duhl

Journal:

Year:

1999

Language:

english

File:

PDF, 772 KB

english, 1999

48

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

Alexander V. Loktev, Qihong Zhang, John S. Beck, Charles C. Searby, Todd E. Scheetz, J. Fernando Bazan, Diane C. Slusarski, Val C. Sheffield, Peter K. Jackson, Maxence V. Nachury

Journal:

Developmental Cell

Year:

2008

Language:

english

File:

PDF, 2.07 MB

english, 2008

49

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43

Ruti Parvari, Eli Hershkovitz, Adam Kanis, Rafael Gorodischer, Shlomit Shalitin, Val C. Sheffield, Rivka Carmi

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 133 KB

english, 1998

50

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

Meyer, Kacie J., Axelsen, Michael S., Sheffield, Val C., Patil, Shivanand R., Wassink, Thomas H.

Journal:

Psychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 326 KB

english, 2012

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