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51

Different Mutations in Carbohydrate Sulfotransferase 6 (CHST6) Gene Cause Macular Corneal Dystrophy Types I and II in a Single Sibship

Ning-Pu Liu, Wenjun Bao, Clayton F. Smith, Jeffery M. Vance, Gordon K. Klintworth

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

52

Thrombotic Storm Revisited: Preliminary Diagnostic Criteria Suggested by the Thrombotic Storm Study Group

Craig S. Kitchens, Doruk Erkan, Leonardo R. Brandão, Susan Hahn, Andra H. James, Roshni Kulkarni, Margaret Pericak-Vance, Jeffery Vance, Thomas L. Ortel

Journal:

The American Journal of Medicine

Year:

2011

Language:

english

File:

PDF, 235 KB

english, 2011

53

PS200. Notch Activation Induces Endothelial Cell Senescence and Pro-Inflammatory Response: Implication of Notch Signaling in Atherosclerosis

Zhao-Jun Liu, Yurong Tan, Runxia Tian, Yan Li, Gary W. Beecham, David M. Seo, Roberto I. Vazquez-Padron, Margaret Pericak-Vance, Jeffery Vance, Pascal Goldschmidt-Clermont, Alan S. Livingstone, Omaida

Journal:

Journal of Vascular Surgery

Year:

2011

Language:

english

File:

PDF, 231 KB

english, 2011

54

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

Brooke A. DeRosa, Jessica M. Van Baaren, Gaurav K. Dubey, Joycelyn M. Lee, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance, Derek M. Dykxhoorn

Journal:

Neuroscience Letters

Year:

2012

Language:

english

File:

PDF, 977 KB

english, 2012

55

Gene–environment interactions in Parkinson's disease and other forms of parkinsonism

Jeffery M. Vance, Syed Ali, Walter G. Bradley, Carlos Singer, Donato A. Di Monte

Journal:

NeuroToxicology

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

56

Toxicity of expanded polyglutamine-domain proteins in Escherichia coli

Osamu Onodera, Allen D. Rose, Shoji Tsuji, Jeffery M. Vance, Warren J. Strittmatter, James R. Burke

Journal:

Year:

1996

Language:

english

File:

PDF, 733 KB

english, 1996

57

The Deacetylase HDAC6 Regulates Aggresome Formation and Cell Viability in Response to Misfolded Protein Stress

Yoshiharu Kawaguchi, Jeffrey J Kovacs, Adam McLaurin, Jeffery M Vance, Akihiro Ito, Tso-Pang Yao

Journal:

Year:

2003

Language:

english

File:

PDF, 1.74 MB

english, 2003

58

Analysis of the stargardt disease gene (ABCR) in age-related macular degeneration

Monica A. De La Paz, Vanessa K. Guy, Suzanne Abou-Donia, Ruth Heinis, Bekki Bracken, Jeffery M. Vance, John R. Gilbert, J.Donald M. Gass, Jonathan L. Haines, Margaret A. Pericak-Vance

Journal:

Year:

1999

Language:

english

File:

PDF, 226 KB

english, 1999

59

Identification of MeCP2 mutations in a series of females with autistic disorder

Regina M. Carney, Chantelle M. Wolpert, Sarah A. Ravan, Mona Shahbazian, Allison Ashley-Koch, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 227 KB

english, 2003

60

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation

Jeffrey M. Stajich, James M. Gilchrist, Felicia Lennon, Arnold Lee, Larry Yamaoka, Barbara Rosi, Perry C. Gaskell, Meredyth Pritchard, Lauren Donald, Allen D. Roses, Jeffery M. Vance, Margaret A. Peri

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 583 KB

english, 1997

61

Clinical and genetic aspects of autosomal recessive CMT

Kamel Ben Othmane, Julie M. Rochelle, Ellen Johnson, Mongi Ben Hamida, Margaret A. Pericak-Vance, Faycal Hentati, Jeffery M. Vance

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 263 KB

english, 1997

62

Haplotype Analysis in Icelandic Families Defines a Minimal Interval for the Macular Corneal Dystrophy Type I Gene

Ning-Pu Liu, Jennifer Baldwin, Fridbert Jonasson, Susan Dew-Knight, Jeffrey M. Stajich, Felicia Lennon, Margaret A. Pericak-Vance, Gordon K. Klintworth, Jeffery M. Vance

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.30 MB

english, 1998

63

Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7

Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia Lennon Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison Rogala, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Tim, Marga

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.66 MB

english, 1999

64

A Duplication in Chromosome 4q35 Is Associated with Hereditary Benign Intraepithelial Dyskeratosis

R.Rand Allingham, Ben Seo, Evadnie Rampersaud, MaryLou Bembe, Pratap Challa, Ningpu Liu, Tanisha Parrish, Linda Karolak, John Gilbert, Margaret A. Pericak-Vance, Gordon K. Klintworth, Jeffery M. Vance

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 87 KB

english, 2001

65

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Ingrid K. Svenson, Allison E. Ashley-Koch, P. Craig Gaskell, Travis J. Riney, W. J. Ken Cumming, Helen M. Kingston, Edward L. Hogan, Rose-Mary N. Boustany, Jeffery M. Vance, Martha A. Nance, Margaret

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 757 KB

english, 2001

66

Association of Polymorphisms in the Apolipoprotein E Region with Susceptibility to and Progression of Multiple Sclerosis

Silke Schmidt, Lisa F. Barcellos, Karen DeSombre, Jacqueline B. Rimmler, Robin R. Lincoln, Patricia Bucher, Ann M. Saunders, Eric Lai, Eden R. Martin, Jeffery M. Vance, Jorge R. Oksenberg, Stephen L.

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 265 KB

english, 2002

67

myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, Alberto L. Rosa

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 348 KB

english, 2002

68

Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22

William K. Scott, Elizabeth R. Hauser, Donald E. Schmechel, Kathleen A. Welsh-Bohmer, Gary W. Small, Allen D. Roses, Ann M. Saunders, John R. Gilbert, Jeffery M. Vance, Jonathan L. Haines, Margaret A.

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 257 KB

english, 2003

69

Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease

Sofia A. Oliveira, Yi-Ju Li, Maher A. Noureddine, Stephan Züchner, Xuejun Qin, Margaret A. Pericak-Vance, Jeffery M. Vance

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.64 MB

english, 2005

70

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, Margaret A. Pericak-Vance

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 626 KB

english, 2006

71

No Gene Is an Island: The Flip-Flop Phenomenon

Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 648 KB

english, 2007

72

Clinical causes and treatment of the thrombotic storm

Ortel, Thomas L, Kitchens, Craig S, Erkan, Doruk, Brandão, Leonardo R, Hahn, Susan, James, Andra H, Kulkarni, Roshni, Manco-Johnson, Marilyn J, Pericak-Vance, Margaret, Vance, Jeffery

Journal:

Expert Review of Hematology

Year:

2012

Language:

english

File:

PDF, 3.91 MB

english, 2012

73

P1-361: Mapping genes affecting age-at-onset of Alzheimer’s disease in the chromosome 8

Jeffery M. Vance, Jie Deng, Gregory Mayhew, John Grimsley, Margaret A. Pericak-Vance, Yi-Ju Li

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

74

P2-129: Benefits of follow-up in Alzheimer disease genetics research

Michael L. Cuccaro, Regina M. Carney, Michael Slifer, Pete C. Gaskell, Donald M. Schmechel, Jeffery M. Vance, Christine M. Hulette, Margaret A. Pericak-Vance

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 60 KB

english, 2006

75

S1-04-06: Commonalities in the genetics of Alzheimer's disease and Parkinson's disease

Jeffery M. Vance

Journal:

Alzheimer's & Dementia

Year:

2008

Language:

english

File:

PDF, 52 KB

english, 2008

76

O2-06-02: A genetic susceptibility locus for depression of Alzheimer's disease and Parkinson's disease

Michael A. Slifer, Gary W. Beecham, Eden R. Martin, Gaofeng Wang, John R. Gilbert, Jonathan L. Haines, Jeffery Vance, Margaret A. Pericak-Vance

Journal:

Alzheimer's & Dementia

Year:

2008

Language:

english

File:

PDF, 70 KB

english, 2008

77

Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer's disease provides genetic evidence for folate-pathway abnormalities

Adam C. Naj, Gary W. Beecham, Eden R. Martin, Paul J. Gallins, Eric H. Powell, Ioanna Konidari, Patrice L. Whitehead, Guiqing Cai, Yuji Kajiwara, Vahram Haroutunian, William K. Scott, Jeffery M. Vance

Journal:

Alzheimer's & Dementia

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

78

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

Stephan Züchner, Jeffery M. Vance

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

79

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase ( HARS ) Gene is Neurotoxic In Vivo

Vester, Aimée, Velez-Ruiz, Gisselle, McLaughlin, Heather M., NISC Comparative Sequencing Program,, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Roda, Ricardo H., Fischbeck, K

Journal:

Year:

2013

Language:

english

File:

PDF, 527 KB

english, 2013

80

Myotonic muscular dystrophy: Calcium-dependent phosphatidate metabolism in the erythrocyte membrane

Larry H. Yamaoka, Jeffery M. Vance, Allen D. Roses

Journal:

Journal of the Neurological Sciences

Year:

1982

Language:

english

File:

PDF, 364 KB

english, 1982

81

High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2

Wang, Liyong, Nuytemans, Karen, Bademci, Guney, Jauregui, Cherylyn, Martin, Eden R., Scott, William K., Vance, Jeffery M., Zuchner, Stephan

Journal:

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

82

Coordination chemistry of new sulfur containing ligands. 27. Synthesis and coordination chemistry of a new 1,2-dithiolene containing the tetrathioethylene unit

Vance, Charles T., Bereman, Robert D., Bordner, Jon, Hatfield, William E., Helms, Jeffery H.

Journal:

Inorganic Chemistry

Year:

1985

Language:

english

File:

PDF, 662 KB

english, 1985

83

Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies

Züchner, Stephan, Vance, Jeffery M

Journal:

Nature Clinical Practice Neurology

Year:

2006

Language:

english

File:

PDF, 431 KB

english, 2006

84

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS ) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina,

Journal:

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

85

Notch activation induces endothelial cell senescence and pro-inflammatory response: Implication of Notch signaling in atherosclerosis

Liu, Zhao-Jun, Tan, Yurong, Beecham, Gary W., Seo, David M., Tian, Runxia, Li, Yan, Vazquez-Padron, Roberto I., Pericak-Vance, Margaret, Vance, Jeffery M., Goldschmidt-Clermont, Pascal J., Livingstone

Journal:

Atherosclerosis

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

86

Detecting Genetic Interactions in Pathway-Based Genome-Wide Association Studies

Huang, Anhui, Martin, Eden R., Vance, Jeffery M., Cai, Xiaodong

Journal:

Genetic Epidemiology

Year:

2014

Language:

english

File:

PDF, 331 KB

english, 2014

87

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

Vance, Jeffery M., Barker, David, Yamaoka, Larry H., Stajich, Jeffrey M., Loprest, Lorraine, Hung, Wu-Yen, Fischbeck, Kenneth, Roses, Allen D., Pericak-Vance, Margaret A.

Journal:

Year:

1991

Language:

english

File:

PDF, 645 KB

english, 1991

88

Confirmation of linkage in von Hippel-Lindau disease

Vance, Jeffery M., Small, Kent W., Jones, Mary A., Stajich, Jeffrey M., Yamaoka, Larry H., Roses, Allen D., Hung, Wu-Yen, Pericak-Vance, Margaret A.

Journal:

Year:

1990

Language:

english

File:

PDF, 295 KB

english, 1990

89

P4-072 Follow-up analysis of chromosome 2 linkage in early-onset Alzheimer disease

Browning, Carrie, Vance, Danica D., Bronson, Paola G., Schmechel, Donald, Welsh-Bohmer, Kathleen, Scott, William, Haines, Jonathan L., Vance, Jeffery M., Pericak-Vance, Margaret A.

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

90

A Potential Novel Variant of Hereditary Sensory Neuropathy in a 61-Year-Old Man With Cough-Induced Syncope and Vertebral Artery Dissection

Lou, Emil, Züchner, Stephan, Vance, Jeffery, Morgenlander, Joel

Journal:

Mayo Clinic Proceedings

Year:

2010

Language:

english

File:

PDF, 64 KB

english, 2010

91

P4-138 Genomic convergence on chromosome 12 in Alzheimer's disease

Quan, Hui, Haines, Jonathan L., Sanchez-Boutard, Nathalie, Small, Gary, Roses, Allen, Schmechel, Donald, Welsh-Bohmer, Kathleen, Xu, Pu-Ting, Li, Yi-Ju, Gilbert, John R., Vance, Jeffery M., Pericak-Va

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 164 KB

english, 2004

92

P4-088 Association analysis of interleukin 1 (IL-1) polymorphisms with age-at-onset and risk of Alzheimer disease

Li, Yi-Ju, Oliveira, Sofia A., Qin, Xue-Jun, Roses, Allen D., Schmechel, Donald, Welsh-Bohmer, Kathleen A., Haines, Jonathan L., Pericak-Vance, Margaret A., Vance, Jeffery M.

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 154 KB

english, 2004

93

North Carolina macular dystrophy is assigned to chromosome 6

Small, Kent W., Weber, James L., Roses, Allen, Lennon, Felicia, Vance, Jeffery M., Pericak-Vance, Margaret A.

Journal:

Year:

1992

Language:

english

File:

PDF, 12.41 MB

english, 1992

94

ELAVL4 locus confirmed in depression of Alzheimer's disease

Slifer, Michael A., Naj, Adam, Beecham, Gary, Martin, Eden, Konidari, Ioanna, Whitehead, Patrice, Gallins, Paul, Cai, Guiqing, Kajiwara, Yuji, Haroutunian, Vahram, Vance, Jeffery, Haines, Jonathan, Bu

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 47 KB

english, 2009

95

Earth observations during space shuttle flight STS‐35: Columbia's mission to planet earth, December 2–10, 1990

Lulla, Kamlesh P., Evans, Cynthia A., Helfert, Michael R., Brand, Vance D., Gardner, Guy S., Lounge, John M., Hoffman, Jeffery A., Parker, Robert A., Durrance, Samuel T., Parise, Ronald A.

Journal:

Geocarto International

Year:

1991

Language:

english

File:

PDF, 1.71 MB

english, 1991

96

Molecular markers of early Parkinson's disease based on gene expression in blood

Scherzer, Clemens R., Eklund, Aron C., Morse, Lee J., Liao, Zhixiang, Locascio, Joseph J., Fefer, Daniel, Schwarzschild, Michael A., Schlossmacher, Michael G., Hauser, Michael A., Vance, Jeffery M., S

Journal:

Proceedings of the National Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 1.31 MB

english, 2007

97

The Many Faces of Charcot-Marie-Tooth Disease

Vance, Jeffery M.

Journal:

Archives of Neurology

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000

98

A novel mutation in the von Hippel — Lindau gene

B.Loeb, Deborah, A.Pericak-Vance, Margaret, M.StajIch, Jeffrey, Vance, Jeffery M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.78 MB

english, 1994

99

The Cytosolic Sensor cGAS Detects Mycobacterium tuberculosis DNA to Induce Type I Interferons and Activate Autophagy

Watson, Robert O., Bell, Samantha L., MacDuff, Donna A., Kimmey, Jacqueline M., Diner, Elie J., Olivas, Joanna, Vance, Russell E., Stallings, Christina L., Virgin, Herbert W., Cox, Jeffery S.

Journal:

Cell Host & Microbe

Year:

2015

Language:

english

File:

PDF, 2.49 MB

english, 2015

100

Gene Expression Profiles in Parkinson Disease Prefrontal Cortex Implicate FOXO1 and Genes under Its Transcriptional Regulation

Dumitriu, Alexandra, Latourelle, Jeanne C., Hadzi, Tiffany C., Pankratz, Nathan, Garza, Dan, Miller, John P., Vance, Jeffery M., Foroud, Tatiana, Beach, Thomas G., Myers, Richard H., Gibson, Greg

Journal:

Year:

2012

Language:

english

File:

PDF, 469 KB

english, 2012

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