Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Lane Rutledge"'
Autor:
Larson, Austin A., Balasubramaniam, Shanti, Christodoulou, John, Burrage, Lindsay C., Marom, Ronit, Graham, Brett H., Diaz, George A., Glamuzina, Emma, Hauser, Natalie, Heese, Bryce, Horvath, Gabriella, Mattman, Andre, van Karnebeek, Clara, Lane Rutledge, S., Williamson, Amy, Estrella, Lissette, Van Hove, Johan K.L., Weisfeld-Adams, James D.
Publikováno v:
In Mitochondrion January 2019 44:58-64
Autor:
Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi
Externí odkaz:
https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26
Autor:
Matthew N, Bainbridge, Aloran, Mazumder, Daisuke, Ogasawara, Rami, Abou Jamra, Geneviève, Bernard, Enrico, Bertini, Lydie, Burglen, Heidi, Cope, Ali, Crawford, Alexa, Derksen, Leon, Dure, Emily, Gantz, Margarete, Koch-Hogrebe, Anna C E, Hurst, Sonal, Mahida, Paige, Marshall, Alessia, Micalizzi, Antonio, Novelli, Hongfan, Peng, Diana, Rodriguez, Shira L, Robbins, S Lane, Rutledge, Roberta, Scalise, Sophia, Schließke, Vandana, Shashi, Siddharth, Srivastava, Isabella, Thiffault, Sarah, Topol, Leila, Qebibo, Dagmar, Wieczorek, Benjamin, Cravatt, Svasti, Haricharan, Ali, Torkamani, Rachel, Mahoney
Publikováno v:
Brain : a journal of neurology. 145(10)
The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246f1b898cc12be5c2aa104c3184b9c2
https://pubmed.ncbi.nlm.nih.gov/35737950
https://pubmed.ncbi.nlm.nih.gov/35737950
Autor:
Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
Publikováno v:
Human Mutation. 41:299-315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7
https://doi.org/10.1002/humu.23929
https://doi.org/10.1002/humu.23929
Autor:
Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Undiagnosed Diseases Network, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G
Publikováno v:
European journal of human genetics : EJHG, vol 29, iss 2
Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::18f73da60768e46c32a2aaf3af7df02f
https://escholarship.org/uc/item/8rz7m8qm
https://escholarship.org/uc/item/8rz7m8qm
Autor:
Lynne M. Bird, Justin T. Jordan, Laura Dosa, Sébastien Perreault, Punita Gupta, Surya P. Rednam, Nicole J. Ullrich, Donald Basel, Linda M. Randolph, Leah W. Burke, Andrea Shugar, Angela Sharp, Ludwine Messiaen, Carey McDougall, Alicia Gomes, Andrea M. Lewis, Maurice J. Mahoney, Rachel K. Hachen, Marie T. McDonald, Katherine A. Rauen, Colette DeFilippo, Carmelo Piscopo, Maria Cristina Digilio, Sandra Janssens, Mary Ella M Pierpont, Lois J. Starr, Eric Legius, Michael F. Wangler, G. Bradley Schaefer, Arthur S. Aylsworth, Pamela Trapane, Ashraf Syed, Laurence E. Walsh, Alesha D. Hicks, Emily Wakefield, Robert Listernick, Nancy J. Mendelsohn, Elaine H. Zackai, Fortunato Lonardo, Dinel A. Pond, Robert S. Greenwood, Alessandro De Luca, Elizabeth K. Schorry, Rianne Oostenbrink, Katharina Wimmer, Ellen Denayer, Felicity Collins, Peter Kannu, Daryl A. Scott, S. Lane Rutledge, Yolanda Martin, Shelley K. Dills, Amedeo A. Azizi, Kristi J. Jones, David T. Miller, Gary Bellus, Yunjia Chen, Tom Callens, Magdalena Koczkowska, Kathleen Claes, Rick van Minkelen, Mayra Martinez Ojeda, Ashley Cannon, Bruce R. Korf, Cristin Griffis, Maria Blazo, Mari Mori, Veronica Saletti, Elizabeth Siqveland, Concepción Hernández-Chico
Publikováno v:
Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicine
PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2d562e93f2c1ec9bece7f0d68c99ac
https://lirias.kuleuven.be/handle/123456789/627148
https://lirias.kuleuven.be/handle/123456789/627148
Autor:
Luc Régal, Katie Clarkson, Katherine Lachlan, Kati J. Buckingham, Charles J. Waechter, F. Sessions Cole, Kimiyo Raymond, Rita Barone, Daisy Rymen, Derek Wong, Arve Vøllo, Gert Matthijs, Jay Shendure, Alina T. Midro, Erik A. Eklund, Hudson H. Freeze, Rudy Van Coster, Gregory M. Cooper, Jeffrey S. Rush, Sergey A. Shiryaev, Luísa Diogo, Philip James, Andrew J. Kornberg, Laurie A. Demmer, Jose E. Abdenur, Valerie Race, Maria Kibaek, Shawn O'Connor, Lynne A. Wolfe, Amarilis Sanchez-Valle, Agata Fiumara, Miao He, Raymond Y. Wang, Alex J. Fay, Martin Kircher, Rebecca D. Ganetzky, William A. Gahl, Erika Souche, Füsun Alehan, Amy Yang, Michael J. Bamshad, Himanshu Goel, S. Lane Rutledge, Jane E. Brumbaugh, Susan Sparks, Daniel Katz, Can Ficicioglu, Bobby G. Ng, Jaak Jaeken, Heidi Peters, Christina Lam, Gerard T. Berry, Liesbeth Keldermans, Eric Vilain, Tim Wood, Lyndsay A. Harshman, Deborah A. Nickerson, Pamela Trapane, Joy Yaplito-Lee
Publikováno v:
Human Mutation. 37:653-660
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37d794721c393eee4b671097cc801db2
https://doi.org/10.1002/humu.22983
https://doi.org/10.1002/humu.22983
Autor:
Stockton14 | Haley Streff38 | Amy Theos59 | ---This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, Magdalena Koczkowska1 | Tom Callens1 | Yunjia Chen1 | Alicia Gomes1 | Alesha D. Hicks1 | Angela Sharp1 | Eric Johns1 | Kim Armfield Uhas2 | Linlea Armstrong3 | Katherine Armstrong Bosanko4 | Dusica Babovic‐Vuksanovic5 | Laura Baker6 | Donald G. Basel7 | Mario Bengala8 | James T. Bennett9 | Chelsea Chambers10 | Lola K. Clarkson11 | Maurizio Clementi12 | Fanny M. Cortés13 | Mitch Cunningham14 | M. Daniela D’Agostino15 | Martin B. Delatycki16 | Maria C. Digilio17 | Laura Dosa18 | Silvia Esposito19 | Stephanie Fox15 | Mary‐Louise Freckmann20 | Christine Fauth21 | Teresa Giugliano22 | Sandra Giustini23 | Allison Goetsch24 | Yael Goldberg25 | Robert S. Greenwood26 | Cristin Griffis7 | Karen W. Gripp6 | Punita Gupta27 | Eric Haan28 | Rachel K. Hachen29 | Tamara L. Haygarth30 | Concepción Hernández‐Chico31 | Katelyn Hodge32 | Robert J. Hopkin33 | Louanne Hudgins34 | Sandra Janssens35 | Kory Keller36 | Geraldine Kelly‐Mancuso33 | Aaina Kochhar37 | Bruce R. Korf1 | Andrea M. Lewis38 | Jan Liebelt39 | Angie Lichty11 | Robert H. Listernick24 | Michael J. Lyons11 | Isabelle Maystadt40 | Mayra Martinez Ojeda41 | Carey McDougall42 | Lesley K. McGregor39 | Daniela Melis43 | Nancy Mendelsohn44 | Malgorzata J. M. Nowaczyk45 | June Ortenberg15 | Karin Panzer46 | John G. Pappas47 | Mary Ella Pierpont48 | Giulio Piluso22 | Valentina Pinna49 | Eniko K. Pivnick50 | Dinel A. Pond44 | Cynthia M. Powell51 | Caleb Rogers36 | Noa Ruhrman Shahar25 | S. Lane Rutledge1† | Veronica Saletti19 | Sarah A. Sandaradura52 | Claudia Santoro53 | Ulrich A. Schatz21 | Allison Schreiber54 | Daryl A. Scott38 | Elizabeth A. Sellars4 | Ruth Sheffer55 | Elizabeth Siqveland44 | John M. Slopis56 | Rosemarie Smith57 | Alberto Spalice58 | David W., which permits use and distribution in any medium, provided the original work is properly cited, Magdalena Koczkowska, the use is non‐commercial and no modifications or adaptations are made., Pascale, Francesco, is also affiliated with the Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, †This paper is dedicated to the memory of our wonderful colleague, Poland., Lane Rutledge, S., who passed away on January, 2, Messiaen1, 2019. Gail E. Tomlinson60 | Grace Tran61 | Pamela L. Trapane62 | Eva Trevisson12 | Nicole J. Ullrich63 | Jenneke Van den Ende64 | Samantha A. Schrier Vergano65 | Stephanie E. Wallace9 | Michael F. Wangler38 | David D. Weaver32 | Kaleb H. Yohay66 | Elaine Zackai42 | Jonathan Zonana67 | Vickie Zurcher54 | Kathleen B. M. Claes35 | Marica Eoli68 | Yolanda Martin31 | Katharina Wimmer21 | Alessandro De Luca49 | Eric Legius69 | Ludwine M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3666::3f4f86c7c21a41fd9c7fcc6c5daccebe
http://hdl.handle.net/11386/4732057
http://hdl.handle.net/11386/4732057
Autor:
Ludwine Messiaen, Ashley Cannon, Concepción Hernández-Chico, Yolanda Martin, Andrea Shugar, Mary Ella M Pierpont, Robert S. Greenwood, Yunjia Chen, Fortunato Lonardo, Ellen Denayer, Arthur S. Aylsworth, Shelley K. Dills, Mayra Martinez Ojeda, Elizabeth K. Schorry, Amedeo A. Azizi, Lois J. Starr, Andrea M. Lewis, Rianne Oostenbrink, Bruce R. Korf, Pamela Trapane, Peter Kannu, Daryl A. Scott, Elizabeth Siqveland, Rick van Minkelen, Justin T. Jordan, Laura Dosa, Nancy J. Mendelsohn, David T. Miller, Dinel A. Pond, Alessandro De Luca, Elaine H. Zackai, Rachel K. Hachen, Donald Basel, Linda M. Randolph, Eric Legius, Maurice J. Mahoney, Tom Callens, Maria Cristina Digilio, Alesha D. Hicks, Carmelo Piscopo, Sandra Janssens, Katherine A. Rauen, Michael F. Wangler, Ashraf Syed, Emily Wakefield, Punita Gupta, Lynne M. Bird, Alicia Gomes, Marie T. McDonald, Katharina Wimmer, S. Lane Rutledge, Colette DeFilippo, Robert Listernick, Kathleen Claes, Surya P. Rednam, Nicole J. Ullrich, Leah W. Burke, Carey McDougall, Sébastien Perreault, Gary Bellus, Magdalena Koczkowska, Cristin Griffis, Laurence E. Walsh, Angela Sharp, Felicity Collins, Maria Blazo, Kristi J. Jones, Mari Mori, Veronica Saletti, G. Bradley Schaefer
Publikováno v:
Genetics in Medicine, vol 21, iss 3
A correction has been published to this Article. The PDF and HTML have been updated accordingly.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfb8f23e708287d8fdd1611de2cb80f
https://doi.org/10.1038/s41436-018-0326-8
https://doi.org/10.1038/s41436-018-0326-8
Autor:
Fady M. Mikhail, S. Lane Rutledge, Maria Descartes, Nathaniel H. Robin, Brooke Rush, Andrew J. Carroll, Jennifer Ibrahim, Rachel D. Burnside, Robin Godshalk
Publikováno v:
Genetics in Medicine. 16:92-100
The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdelet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5c9f359cb86717925d117fae05e1c9
https://doi.org/10.1038/gim.2013.79
https://doi.org/10.1038/gim.2013.79