Search Results - "Sastry, Sujatha"

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding by Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.

“…Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by…”
Get full text

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations by Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G

“…Purpose: Pitt-Hopkins syndrome is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset…”
Get full text

Duplication of the STS region in males is a benign copy‐number variant by Furrow, Aubry, Theisen, Aaron, Velsher, Lea, Bawle, Erawati V., Sastry, Sujatha, Mendelsohn, Nancy J., Jarvis, Kristi, Shaffer, Lisa G., Chitayat, David

“…Copy‐number variants (CNVs) are a common finding in the human genome, with copy gains occurring at a higher frequency than losses in several databases of…”
Get full text

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL X Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding by Blackburn, Patrick R, Tischer, Alexander, Zimmermann, Michael T, Kemppainen, Jennifer L, Sastry, Sujatha, Knight Johnson, Amy E, Cousin, Margot A, Boczek, Nicole J, Oliver, Gavin, Misra, Vinod K, Gavrilova, Ralitza H, Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W

“…Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by…”
Get full text

Duplication of the STS region in males is a benign copy-number variant by Furrow, Aubry, Theisen, Aaron, Velsher, Lea, Bawle, Erawati V., Sastry, Sujatha, Mendelsohn, Nancy J., Jarvis, Kristi, Shaffer, Lisa G., Chitayat, David

Get full text

Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome by Yenamandra, Aswani, Zhou, Xianting, Trinchitella, Lisa, Susin, Myron, Sastry, Sujatha, Mehta, Lakshmi

“…Klinefelter syndrome (KS) is a sex chromosome abnormality occurring in 1 in 1,000 males. An association with leukemia, germ cell tumor, and male breast cancer…”
Get full text