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Von Willebrand factor promoter targets the expression of amyloid β protein precursor to brain vascular endothelial cells of transgenic mice.
Published in:
Journal of Alzheimer's Disease, 2003, v. 5, n. 2, p. 149, doi. 10.3233/JAD-2003-5209
By:
- Jahroudi, Nadia;
- Schmaier, Alvin;
- Srikanth, Sujata;
- Mahdi, Fakhri;
- Lutka, Frances A.;
- Bowser, Robert
Publication type:
Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
By:
- Cascio, Lauren;
- Chen, Chin‐Fu;
- Pauly, Rini;
- Srikanth, Sujata;
- Jones, Kelly;
- Skinner, Cindy D.;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Boccuto, Luigi
Publication type:
Article
SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies.
Published in:
PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0301225
By:
- Napolitano, Justin M.;
- Srikanth, Sujata;
- Noorai, Rooksana E.;
- Wilson, Stevin;
- Williams, Kaitlyn E.;
- Rosales-Garcia, Ramses A.;
- Krueger, Brian;
- Emerson, Chloe;
- Parker, Scott;
- Pruitt, John;
- Dango, Rachel;
- Iyer, Lax;
- Shafi, Adib;
- Jayawardena, Iromi;
- Parkinson, Christopher L.;
- McMahan, Christopher;
- Rennert, Lior;
- Peng, Congyue Annie;
- Dean, Delphine
Publication type:
Article
Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1047, doi. 10.1002/ajmg.a.61145
By:
- Zarate, Yuri A.;
- Boccuto, Luigi;
- Srikanth, Sujata;
- Pauly, Rini;
- Ocal, Eylem;
- Balmakund, Tonya;
- Hinkle, Kevin;
- Stefans, Vikki;
- Schaefer, Gerald B.;
- Collins, Ronnie Thomas
Publication type:
Article
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A ( FLNA) mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 881, doi. 10.1002/ajmg.a.37567
By:
- Lah, Melissa;
- Niranjan, Tejasvi;
- Srikanth, Sujata;
- Holloway, Lynda;
- Schwartz, Charles E.;
- Wang, Tao;
- Weaver, David D.
Publication type:
Article
Microfluidic Diffusional Sizing (MDS) Measurements of Secretory Neutralizing Antibody Affinity Against SARS-CoV-2.
Published in:
Annals of Biomedical Engineering, 2024, v. 52, n. 6, p. 1653, doi. 10.1007/s10439-024-03478-0
By:
- O'Mahoney, Cara;
- Watt, Ian;
- Fiedler, Sebastian;
- Devenish, Sean;
- Srikanth, Sujata;
- Justice, Erica;
- Dover, Tristan;
- Dean, Delphine;
- Peng, Congyue
Publication type:
Article
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Published in:
PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0253859
By:
- Srikanth, Sujata;
- Jain, Lavanya;
- Zepeda-Mendoza, Cinthya;
- Cascio, Lauren;
- Jones, Kelly;
- Pauly, Rini;
- DuPont, Barb;
- Rogers, Curtis;
- Sarasua, Sara;
- Phelan, Katy;
- Morton, Cynthia;
- Boccuto, Luigi
Publication type:
Article
Cortisol and Alpha-Synuclein Stability in Saliva under Varying Storage and Handling Conditions.
Published in:
Journal of the South Carolina Academy of Science, 2024, v. 22, n. 2, p. 129
By:
- Mo Zheng;
- Srikanth, Sujata;
- Carpenter, Jeremiah;
- Dean, Delphine
Publication type:
Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
By:
- Coleman, Jessica A Cooley;
- Gass, Jennifer M;
- Srikanth, Sujata;
- Pauly, Rini;
- Ziats, Catherine A;
- Everman, David B;
- Skinner, Steven A;
- Bell, Shannon;
- Louie, Raymond J;
- Cascio, Lauren;
- Patterson, Wesley G;
- Jones, Julie R;
- Donato, Nataliya Di;
- Stevenson, Roger E;
- Boccuto, Luigi
Publication type:
Article
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 5, p. 732, doi. 10.1093/hmg/ddac226
By:
- Colonna, Maxwell B;
- Moss, Tonya;
- Mokashi, Sneha;
- Srikanth, Sujata;
- Jones, Julie R;
- Foley, Jackson R;
- Skinner, Cindy;
- Lichty, Angie;
- Kocur, Anthony;
- Wood, Tim;
- Stewart, Tracy Murray;
- Casero Jr., Robert A;
- Flanagan-Steet, Heather;
- Edison, Arthur S;
- Lyons, Michael J;
- Steet, Richard
Publication type:
Article
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Published in:
Clinical Genetics, 2023, v. 104, n. 2, p. 198, doi. 10.1111/cge.14361
By:
- Moffitt, Bridgette A.;
- Oberman, Lindsay M.;
- Beamer, Laura;
- Srikanth, Sujata;
- Jain, Lavanya;
- Cascio, Lauren;
- Jones, Kelly;
- Pauly, Rini;
- May, Melanie;
- Skinner, Cindy;
- Buchanan, Caroline;
- DuPont, Barbara R.;
- Kaufmann, Walter E.;
- Valentine, Kathleen;
- Ward, Linda D.;
- Ivankovic, Diana;
- Rogers, R. Curtis;
- Phelan, Katy;
- Sarasua, Sara M.;
- Boccuto, Luigi
Publication type:
Article
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 87, doi. 10.1111/cge.14074
By:
- Jain, Lavanya;
- Oberman, Lindsay M.;
- Beamer, Laura;
- Cascio, Lauren;
- May, Melanie;
- Srikanth, Sujata;
- Skinner, Cindy;
- Jones, Kelly;
- Allen, Bridgette;
- Rogers, Curtis;
- Phelan, Katy;
- Kaufmann, Walter E.;
- DuPont, Barbara;
- Sarasua, Sara M.;
- Boccuto, Luigi
Publication type:
Article
Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 590, doi. 10.1111/cge.13451
By:
- Boccuto, Luigi;
- Abenavoli, Ludovico;
- Cascio, Lauren;
- Srikanth, Sujata;
- DuPont, Barbara;
- Mitz, Andrew R.;
- Rogers, Roger Curtis;
- Phelan, Katy
Publication type:
Article
Plasma prekallikrein: a risk marker for hypertension and nephropathy in type 1 diabetes.
Published in:
2003
By:
- Jaffa, Ayad A;
- Durazo-Arvizu, Ramon;
- Zheng, Deyi;
- Lackland, Daniel T;
- Srikanth, Sujata;
- Garvey, W Timothy;
- Schmaier, Alvin H;
- DCCT/EDIC Study Group
Publication type:
journal article
A Rise Marker for Hypertension and Nephropathy in Type 1 Diabetes.
Published in:
Diabetes, 2003, v. 52, n. 5, p. 1215, doi. 10.2337/diabetes.52.5.1215
By:
- Jaffa, Ayad A.;
- Durazo-Arvizu, Ramon;
- Zheng, Deyi;
- Lackland, Daniel T.;
- Srikanth, Sujata;
- Garvey, W. Timothy;
- Schmaier, Alvin H.
Publication type:
Article
Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue.
Published in:
Journal of Translational Medicine, 2012, v. 10, n. 1, p. 125, doi. 10.1186/1479-5876-10-125
By:
- Monsma, David J.;
- Monks, Noel R .;
- Cherba, David M.;
- Dylewski, Dawna;
- Eugster, Emily;
- Jahn, Hailey;
- Srikanth, Sujata;
- Scott, Stephanie B.;
- Richardson, Patrick J.;
- Everts, Robin E.;
- Ishkin, Aleksandr;
- Nikolsky, Yuri;
- Resau, James H.;
- Sigler, Robert;
- Nickoloff, Brian J.;
- Webb, Craig P.
Publication type:
Article
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Published in:
Biomedicines, 2024, v. 12, n. 5, p. 991, doi. 10.3390/biomedicines12050991
By:
- Pérez-Cano, Laura;
- Boccuto, Luigi;
- Sirci, Francesco;
- Hidalgo, Jose Manuel;
- Valentini, Samuel;
- Bosio, Mattia;
- Liogier D'Ardhuy, Xavier;
- Skinner, Cindy;
- Cascio, Lauren;
- Srikanth, Sujata;
- Jones, Kelly;
- Buchanan, Caroline B.;
- Skinner, Steven A.;
- Gomez-Mancilla, Baltazar;
- Hyvelin, Jean-Marc;
- Guney, Emre;
- Durham, Lynn
Publication type:
Article
Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors.
Published in:
Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1661-z
By:
- Shen, Fangzhou;
- Boccuto, Luigi;
- Pauly, Rini;
- Srikanth, Sujata;
- Chandrasekaran, Sriram
Publication type:
Article
Static uniform magnetic fields and amoebae.
Published in:
Bioelectromagnetics, 1997, v. 18, n. 1, p. 81, doi. 10.1002/(SICI)1521-186X(1997)18:1<81::AID-BEM12>3.0.CO;2-T
By:
- Berk, Sharon G.;
- Srikanth, Sujata;
- Mahajan, Satish M.;
- Ventrice, Carl A.
Publication type:
Article
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17452-6
By:
- Lee, Yu-Ri;
- Khan, Kamal;
- Armfield-Uhas, Kim;
- Srikanth, Sujata;
- Thompson, Nicola A.;
- Pardo, Mercedes;
- Yu, Lu;
- Norris, Joy W.;
- Peng, Yunhui;
- Gripp, Karen W.;
- Aleck, Kirk A.;
- Li, Chumei;
- Spence, Ed;
- Choi, Tae-Ik;
- Kwon, Soo Jeong;
- Park, Hee-Moon;
- Yu, Daseuli;
- Do Heo, Won;
- Mooney, Marie R.;
- Baig, Shahid M.
Publication type:
Article

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