Search Results - "Bhat, Shambhu S"

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 by Rodriguez, Jayson D., Bhat, Shambhu S., Meloni, Ilaria, Ladd, Sydney, Leslie, Nancy D., Doyne, Emanuel O., Renieri, Alessandra, DuPont, Barbara R., Stevenson, Roger E., Schwartz, Charles E., Srivastava, Anand K.

“…Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. We…”
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Evidence that SIZN1 is a candidate X-linked mental retardation gene by Cho, Ginam, Bhat, Shambhu S., Gao, Jinsong, Collins, Julianne S., Rogers, R. Curtis, Simensen, Richard J., Schwartz, Charles E., Golden, Jeffrey A., Srivastava, Anand K.

“…An estimated 1–3% of individuals within the United States are diagnosed with mental retardation (MR), yet the cause is unknown in nearly 50% of the patients…”
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A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia by Bhat, Shambhu S., Rogers, R. Curtis, Holden, Kenton R., Srivastava, Anand K.

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Mutations in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation by Gécz, Jozef, Perry, Janet, Smith, Raffaella, Edkins, Sarah, Pearson, Pauline, Nguyen, Lam S, Shepherd, Rebecca, West, Sofie, Bobrow, Martin, Teague, John, Sanderson, Tracy, Richardson, David, Wooster, Richard, Varian, Jennifer, Rodriguez, Jayson, Bhat, Shambhu S, Jenkinson, Andrew, Vandeleur, Lucianne, Dicks, Ed, Srivastava, Anand K, Warner, John P, O'Meara, Sarah, Skinner, Cindy, Tarpey, Patrick S, Raine, Keiran, Stevenson, Roger E, Luo, Yin, Barthorpe, Syd, Butler, Adam, Moon, Jenny, Hackett, Anna, Parnau, Josep, Hoganson, George, Thomas, Paul, Hills, Katy, Brooks, Doug, Widaa, Sara, Halliday, Kelly, Lucy Raymond, F, Tofts, Calli, Andrew Futreal, P, Jones, David, Cole, Jennifer, Porteous, Mary E, Menzies, Andrew, Superneau, Duane, Corbett, Mark, Shoubridge, Cheryl, Schwartz, Charles E, Gardner, Alison, Stevens, Claire, Turner, Gillian, Parkinson-Lawrence, Emma, Stratton, Michael R, Buck, Gemma, Mironenko, Tatiana, Simensen, Richard J

“…Nonsense-mediated mRNA decay (NMD) is of universal biological significance. It has emerged as an important global RNA, DNA and translation regulatory pathway…”
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A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia by Bhat, Shambhu S, Rogers, R Curtis, Holden, Kenton R, Srivastava, Anand K

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Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 by Rodriguez, Jayson D., Bhat, Shambhu S., Meloni, Ilaria, Ladd, Sydney, Leslie, Nancy D., Doyne, Emanuel O., Renieri, Alessandra, DuPont, Barbara R., Stevenson, Roger E., Schwartz, Charles E., Srivastava, Anand K.

Get full text