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2. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.

Author

Maloney, Kristin A., Mizerik, Elizabeth, King, Robin H., McGinnis, Erin M., Perkowitz, Susan, Diamonstein, Callie J., Schmanski, Andrew A., Saliganan, Sheila, Shipper, Andrea G., Udler, Miriam S., Guan, Yue, and Pollin, Toni I.

Abstract

Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors

Author

Maloney, Kristin A., primary, Mizerik, Elizabeth, additional, King, Robin H., additional, McGinnis, Erin M., additional, Perkowitz, Susan, additional, Diamonstein, Callie J., additional, Schmanski, Andrew A., additional, Saliganan, Sheila, additional, Shipper, Andrea G., additional, Udler, Miriam S., additional, Guan, Yue, additional, and Pollin, Toni I., additional

Published
2023
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4. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Author

Patterson, Victoria, primary, Ullah, Farid, additional, Bryant, Laura, additional, Griffin, John N., additional, Sidhu, Alpa, additional, Saliganan, Sheila, additional, Blaile, Mackenzie, additional, Saenz, Margarita S., additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Grange, Dorothy K., additional, Hu, Xuyun, additional, Mireguli, Maimaiti, additional, Luo, Yanfei, additional, Shen, Yiping, additional, Mulhern, Maureen, additional, Zackai, Elaine, additional, Ritter, Alyssa, additional, Izumi, Kosaki, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Riedhammer, Korbinian M., additional, Seitz, Barbara, additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Mignot, Cyril, additional, Keren, Boris, additional, Cox, Helen, additional, Jarvis, Joanna, additional, Hempel, Maja, additional, Gibson, Cynthia Forster, additional, Tran Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Bruel, Ange-Line, additional, Sorlin, Arthur, additional, Mehta, Sarju, additional, Raymond, F. Lucy, additional, Gilmore, Kelly, additional, Powell, Bradford C., additional, Weck, Karen, additional, Li, Chumei, additional, Vulto-van Silfhout, Anneke T., additional, Giacomini, Thea, additional, Mancardi, Maria Margherita, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Zara, Federico, additional, Vora, Neeta L., additional, Davis, Erica E., additional, Burdine, Rebecca, additional, and Bhoj, Elizabeth, additional

Published
2023
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5. Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024))

Author

Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J., and Human genetics

Abstract

(Human Genetics and Genomics Advances 2, 100024; April 8, 2021) Patients 3-1 and 3-2 (siblings) were tested at GeneDx. They were compound heterozygous for p.Arg1472Glu and c.3434del p.Lys1145fs∗7. However c.3434del p.Lys1145fs∗7 was noted as p.Leu1145fs∗7 in Table S1 and the supplemental text. This has now been corrected, and the authors regret the error.

Published
2022
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6. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Author

Nair, Divya, primary, Li, Dong, additional, Erdogan, Hannah, additional, Yoon, Andrew, additional, Harr, Margaret H., additional, Bergant, Gaber, additional, Peterlin, Borut, additional, Pušenjak, Maruša Škrjanec, additional, Jayakar, Parul, additional, Pfundt, Rolph, additional, Jansen, Sandra, additional, McWalter, Kirsty, additional, Sidhu, Alpa, additional, Saliganan, Sheila, additional, Agolini, Emanuele, additional, Jacob, Arthur, additional, Pasquier, Jennifer, additional, Arash, Rafii, additional, Kahrizi, Kimia, additional, Najmabadi, Hossein, additional, Ropers, Hans-Hilger, additional, and Bhoj, Elizabeth J., additional

Published
2022
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8. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Author

Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, and Bhoj, Elizabeth J.

Published
2021
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