전남대학교 중앙도서관

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms

학술저널

issue: MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e676 7p.
Author: Cassini, Thomas A.
Duncan, Laura
Rives, Lynette C.
Newman, John H.
Phillips, John A.
Koziura, Mary E.
Brault, Jennifer
Hamid, Rizwan
Cogan, Joy
Adams, Christopher J.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mashid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chao, Katherine R.
Chen, Shan
Clark, Gary D.
Cooper, Cynthia M.
Craigen, William J.
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Fisher, Paul G.
Frisby, Trevor S.
Frost, Kate
Gahl, William A.
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Goldstein, David B.
Gordon, Mary G.
Gould, Sarah E.
Gourdine, JeanPhilippe F.
Graham, Brett H.
Groden, Catherine A.
Gropman, Andrea L.
Hackbarth, Mary E.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Hardee, Isabel
Herzog, Matthew R.
Holm, Ingrid A.
Howerton, Ellen M.
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Koehler, Alanna E.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Lazar, Jozef
Lee, Brendan H.
Lee, Hane
Lee, Paul R.
Levy, Shawn E.
Levy, Denise J.
Lewis, Richard A.
Liebendorfer, Adam P.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Mazur, Paul
McCarty, Alexandra J.
McConkie-Rosell, Allyn
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Ramoni, Rachel B.
Rodan, Lance H.
Rosenfeld, Jill A.
Sadozai, Sarah
Samson, Susan L.
Schaffer, Katherine E.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Soldatos, Ariane G.
Spillmann, Rebecca C.
Splinter, Kimberly
Stoler, Joan M.
Stong, Nicholas
Strong, Kimberly A.
Sullivan, Jennifer A.
Sweetser, David A.
Thomas, Sara P.
Tifft, Cynthia J.
Tolman, Nathanial J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Wangler, Michael F.
Warburton, Mike
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Weech, Alec A.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zhang, Jing
Zornio, Patricia A.
Undiagnosed Dis Network
DB Label: Database : Science Citation Index Expanded

원문보기: Open Access (Wiley) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

학술저널

issue: GENETICS IN MEDICINE; APR 2018, 20 4, p464-p469, 6p.
Author: Pena, Loren D. M.
Jiang, Yong-Hui
Schoch, Kelly
Spillmann, Rebecca C.
Walley, Nicole
Stong, Nicholas
Horn, Sarah Rapisardo
Sullivan, Jennifer A.
McConkie-Rosell, Allyn
Kansagra, Sujay
Smith, Edward C.
El-Dairi, Mays
Bellet, Jane
Keels, Martha Ann
Jasien, Joan
Kranz, Peter G.
Noel, Richard
Nagaraj, Shashi K.
Lark, Robert K.
Wechsler, Daniel S. G.
del Gaudio, Daniela
Leung, Marco L.
Hendon, Laura G.
Parker, Collette C.
Jones, Kelly L.
Goldstein, David B.
Shashi, Vandana
Alejandro, Mercedes E.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Graham, Brett H.
Hanchard, Neil A.
Jain, Mahim
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Azamian, Mashid S.
Moretti, Paolo M.
Nicholas, Sarah K.
Orange, Jordan S.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Zhang, Jing
Bellen, Hugo J.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Muzny, Donna M.
Ward, Patricia A.
Yang, Yaping
Walley, Nicole M.
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia M.
Donnell-Fink, Laurel A.
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walsh, Chris A.
Esteves, Cecilia
Holm, Ingrid A.
Kohane, Isaac S.
Mazur, Paul
McCray, Alexa T.
Might, Matthew
Ramoni, Rachel B.
Splinter, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna M.
Dorset, Daniel C.
Handley, Lori H.
Jacob, Howard J.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
Newberry, J. Scott
Schroeder, Molly C.
Strong, Kimberly A.
Worthey, Elizabeth A.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton, Ellen M.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Soldatos, Ariane G.
Brush, Matthew
Gourdine, Jean-Philippe F.
Haendel, Melissa
Koeller, David M.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Ashley, Euan A.
Bernstein, Jonathan A.
Dries, Annika M.
Fisher, Paul G.
Kohler, Jennefer N.
Waggott, Daryl M.
Wheeler, Matthew T.
Zornio, Patricia A.
Allard, Patrick
Barseghyan, Hayk
Dell'Angelica, Esteban C.
Dillon, Ani
Dipple, Katrina M.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Lipson, Allen
Loo, Sandra K.
Martinez-Agosto, Julian A.
Nelson, Stan F.
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Zheng, Allison
Adams, Christopher J.
Burke, Elizabeth A.
Chao, Katherine R.
Davids, Mariska
Draper, David D.
Estwick, Tyra
Frisby, Trevor S.
Frost, Kate
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Gordon, Mary G.
Groden, Catherine A.
Hackbarth, Mary E.
Hardee, Isabel
Johnston, Jean M.
Koehler, Alanna E.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Levy, Denise J.
Liebendorfer, Adam P.
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
McCarty, Alexandra J.
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sadozai, Sarah
Schaffer, Katherine E.
Sharma, Prashant
Thomas, Sara P.
Tolman, Nathanial J.
Toro, Camilo
Valivullah, Zaheer M.
Wahl, Colleen E.
Warburton, Mike
Weech, Alec A.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine, V
Tifft, Cynthia J.
Wolfe, Lynne A.
Lee, Paul R.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Cogan, Joy D.
Hamid, Rizwan
Newman, John H.
Phillips, John A., III
Robertson, Amy K.
Undiagnosed Dis Network Members
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

Discriminative Stimulus Properties of Idazoxan: Mediation by Both alpha(2) Adrenoceptor Antagonism and 5-HT1A Receptor Agonism

학술저널

issue: DRUG DEVELOPMENT RESEARCH; JUN 2010, 71 4, p261-p267, 7p.
Author: Prus, Adam J.
Zornio, Patricia A.
Schuck, Candice J.
Heerts, Tanya
Jacobson, Sarah M.
Winiarski, Dominika A.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Discriminative stimulus properties of idazoxan: mediation by both α2 adrenoceptor antagonism and 5-HT1A receptor agonism.

학술저널

issue: Drug Development Research; Jun2010, Vol. 71 Issue 4, p261-267, 7p
Author: Prus, Adam J.
Zornio, Patricia A.
Schuck, Candice J.
Heerts, Tanya
Jacobson, Sarah M.
Winiarski, Dominika A.
DB Label: Database : Complementary Index

원문보기: Full Text (Wiley-DB) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Discriminative stimulus properties of idazoxan: mediation by both α2adrenoceptor antagonism and 5‐HT1Areceptor agonism

정기출판물

issue: Drug Development Research; June 2010, Vol. 71 Issue: 4 p261-267, 7p
Author: Prus, Adam J.
Zornio, Patricia A.
Schuck, Candice J.
Heerts, Tanya
Jacobson, Sarah M.
Winiarski, Dominika A.
DB Label: Database : Supplemental Index

원문보기: Full Text (Wiley-DB) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

학술저널

issue: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Jan; Vol. 3 (1), pp. a001388.
Author: Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Zornio PA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Dries A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Fernandez L; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Waggott D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Walkiewicz M; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Eng CM; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Manning MA; Department of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.
Farrelly E; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA.
Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Neurology, Stanford School of Medicine, Stanford, California 94304, USA.
Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford School of Medicine, Stanford, California 94305, USA.
Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA.
Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) 등재 - SCOPUS 조회 - Impact Factor (JCR)

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