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Rita Shiang
Rita Shiang
Associate Professor of Human and Molecular Genetics, Virginia Commonwealth University
在 vcu.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
ME MacDonald, CM Ambrose, MP Duyao, RH Myers, C Lin, L Srinidhi, ...
Cell 72 (6), 971-983, 1993
22801993
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
R Shiang, LM Thompson, YZ Zhu, DM Church, TJ Fielder, M Bocian, ...
Cell 78 (2), 335-342, 1994
16111994
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ...
Nature genetics 9 (3), 321-328, 1995
6921995
Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
R Shiang, SG Ryan, YZ Zhu, AF Hahn, P O'Connell, JJ Wasmuth
Nature genetics 5 (4), 351-358, 1993
5811993
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
S Amr, C Heisey, M Zhang, XJ Xia, KH Shows, K Ajlouni, A Pandya, ...
The American Journal of Human Genetics 81 (4), 673-683, 2007
3022007
Why do faculty leave? Reasons for attrition of women and minority faculty from a medical school: four-year results
KL Cropsey, SW Masho, R Shiang, V Sikka, SG Kornstein, CL Hampton, ...
Journal of women's health 17 (7), 1111-1118, 2008
2572008
Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines
AC Lidral, JC Murray, KH Buetow, AM Basart, H Schearer, R Shiang, ...
The Cleft palate-craniofacial journal 34 (1), 1-6, 1997
2541997
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
MI Rees, K Harvey, BR Pearce, SK Chung, IC Duguid, P Thomas, ...
Nature genetics 38 (7), 801-806, 2006
2472006
Mutations in ANKH cause chondrocalcinosis
A Pendleton, MD Johnson, A Hughes, KA Gurley, AM Ho, M Doherty, ...
The American Journal of Human Genetics 71 (4), 933-940, 2002
2462002
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ...
The American Journal of Human Genetics 68 (6), 1321-1326, 2001
2172001
A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse
SG Ryan, MS Buckwalter, JW Lynch, CA Handford, L Segura, R Shiang, ...
Nature genetics 7 (2), 131-135, 1994
2141994
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
SK Chung, JF Vanbellinghen, JGL Mullins, A Robinson, J Hantke, ...
Journal of Neuroscience 30 (28), 9612-9620, 2010
1452010
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO).
R Shiang, AC Lidral, HH Ardinger, KH Buetow, PA Romitti, RG Munger, ...
American journal of human genetics 53 (4), 836, 1993
1351993
Mutational analysis of familial and sporadic hyperekplexia
R Shiang, SG Ryan, YZ Zhu, TJ Fielder, RJ Allen, A Fryer, S Yamashita, ...
Annals of Neurology: Official Journal of the American Neurological …, 1995
1321995
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
PL Tavormina, DL Rimoin, DH Cohn, YZ Zhu, R Shiang, JJ Wasmuth, ...
Oxford University Press, 1995
1221995
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and …
J Dixon, K Hovanes, R Shiang, MJ Dixon
Human molecular genetics 6 (5), 727-737, 1997
1171997
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
ST Winokur, R Shiang
Human molecular genetics 7 (12), 1947-1952, 1998
1081998
A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates
KH Buetow, R Shiang, P Yang, Y Nakamura, GM Lathrop, R White, ...
American journal of human genetics 48 (5), 911, 1991
921991
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
J Theilmann, S Kanani, R Shiang, C Robbins, O Quarrell, M Huggins, ...
Journal of medical genetics 26 (11), 676-681, 1989
891989
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease
E Carta, SK Chung, VM James, A Robinson, JL Gill, N Remy, ...
Journal of Biological Chemistry 287 (34), 28975-28985, 2012
882012
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