Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis J. Ptáček, Eric W. Johnson, Douglas A. Marchuk,
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures. Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 are responsible for CCM3. DNA sequence analysis of the known CCM genes in a cohort of 63 CCM-affected families showed that a high proportion (40%) of these lacked any identifiable ...
Tópico(s): Intracerebral and Subarachnoid Hemorrhage Research
2006 - Elsevier BV | The American Journal of Human Genetics
Christina L. Liquori, Michel J. Berg, Adrian M. Siegel, Elizabeth Huang, Jon S. Zawistowski, T’Prien Stoffer, Dominique J. Verlaan, Fiyinfolu Balogun, L.A. Hughes, Tracey P. Leedom, Nicholas W. Plummer, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Eric W. Johnson, Guy A. Rouleau, Louis J. Ptáček, Douglas A. Marchuk,
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2). MGC4607, similar to the KRIT1 binding partner ICAP1α, encodes a protein with a phosphotyrosine-binding domain. This protein ...
Tópico(s): Intracranial Aneurysms: Treatment and Complications
2003 - Elsevier BV | The American Journal of Human Genetics
Jonathan Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk,
The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT). In this paper we present the genomic structure of the ALK-1 gene, a type I serine-threonine kinase receptor expressed predominantly in endothelial cells. The coding region is contained within nine exons, spanning < 15 kb of genomic DNA. All introns follow the GT-AG rule, except for intron 6, which has a TAG/gcaag 5' splice junction. The positions ...
Tópico(s): Tracheal and airway disorders
1997 - Elsevier BV | The American Journal of Human Genetics
Ingrid K. Svenson, Allison E. Ashley‐Koch, P. C. Gaskell, Travis J. Riney, W. J. Ken Cumming, Helen Kingston, Edward L. Hogan, Rose-Mary N. Boustany, Jeffery M. Vance, Martha Nance, Margaret A. Pericak‐Vance, Douglas A. Marchuk,
Tópico(s): Neurogenetic and Muscular Disorders Research
2001 - Elsevier BV | The American Journal of Human Genetics
Ingrid K. Svenson, Allison E. Ashley‐Koch, Margaret A. Pericak‐Vance, Douglas A. Marchuk,
To the Editor: Mutations in the gene encoding spastin, an ATPase of unknown function, cause the most common form of autosomal dominant hereditary spastic paraplegia (SPG4 [MIM 182601]; Hazan et al. Hazan et al., 1999Hazan J Fonknechten N Mavel D Paternotte C Samson D Artiguenave F Davoine C-S Cruaud D Dürr A Wincker P Brottier P Cattolico L Barbe V Burgunder J-M Prud’homme J-F Brice A Fontaine B Heilig R Weissenbach J Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2001 - Elsevier BV | The American Journal of Human Genetics
Evan Reid, Mark Kloos, Allison E. Ashley‐Koch, L.A. Hughes, Simon Bevan, Ingrid K. Svenson, Felicia L. Graham, P. C. Gaskell, Andrew Dearlove, Margaret A. Pericak‐Vance, David C. Rubinsztein, Douglas A. Marchuk,
We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant asparagine residue that, when mutated in orthologous kinesin heavy chain motor proteins, prevents stimulation of the motor ATPase by microtubule-binding. Mutation of kinesin orthologues in various species leads to phenotypes resembling hereditary ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2002 - Elsevier BV | The American Journal of Human Genetics
Daniel Snellings, Carol J. Gallione, Dewi Clark, Nicholas T. Vozoris, Marie E. Faughnan, Douglas A. Marchuk,
Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations (VMs) including visceral arteriovenous malformations and mucosal telangiectasia. HHT is caused by loss-of-function (LoF) mutations in one of three genes, ENG, ACVRL1, or SMAD4, and is inherited as an autosomal-dominant condition. Intriguingly, the constitutional mutation causing HHT is present throughout the body, yet the multiple VMs in individuals with HHT occur focally, rather than manifesting ...
Tópico(s): Sharing Economy and Platforms
2019 - Elsevier BV | The American Journal of Human Genetics
Ugur M. Ayturk, Javier Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P. Kozakewich, Joyce Bischoff, Arin K. Greene, Matthew L. Warman,
... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ... Diamonti A.J. Goumnerov B. Pasyk K.A. Marchuk D.A. Warman M.L. Cantley L.C. ... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ...
Tópico(s): Vascular Tumors and Angiosarcomas
2016 - Elsevier BV | The American Journal of Human Genetics
Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau,
... 92: 6620-6624Crossref PubMed Scopus (144) Google Scholar; Marchuk et al. Marchuk et al., 1995Marchuk DA Gallione CJ Morrison LA ... Rich SS Zabramski JM Boguski MS Green ED Marchuk DA Mutations in the gene encoding KRIT1, a ... Golemis E Beitinjaneh F Green ED Johnson EW Marchuk DA Computational and experimental analyses reveal previously undetected ...
Tópico(s): Intracranial Aneurysms: Treatment and Complications
2002 - Elsevier BV | The American Journal of Human Genetics
Zemin Deng, Jane H. Morse, Susan L. Slager, Nieves Cuervo, Keith J. Moore, George Venetos, Sergey Kalachikov, Eftìhia Cayanis, Stuart G. Fischer, Robyn J. Barst, Susan E. Hodge, James A. Knowles,
... al. Lux et al., 2000Lux A Gallione CJ Marchuk DA Expression analysis of endoglin missense and truncation ... Jackson CE Attisano L Kucherlapati R Porteous ME Marchuk DA Mutations in the activin receptor-like kinase ... al. Lux et al., 2000Lux A Gallione CJ Marchuk DA Expression analysis of endoglin missense and truncation ...
Tópico(s): Medical Imaging and Pathology Studies
2000 - Elsevier BV | The American Journal of Human Genetics
Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Geneviève, Olivier Goulet, Jean‐Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa‐Lyonnet,
... Lehtonen R Prior TW Frebourg T Teh BT Marchuk DA Aaltonen LA Eng C Molecular classification of ... Lehtonen R Prior TW Frebourg T Teh BT Marchuk DA Aaltonen LA Eng C Molecular classification of ... Lehtonen R Prior TW Frebourg T Teh BT Marchuk DA Aaltonen LA Eng C Molecular classification of ...
Tópico(s): NF-κB Signaling Pathways
2006 - Elsevier BV | The American Journal of Human Genetics
Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa, Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabéu, David A. Stevenson, James Runo, Pınar Bayrak‐Toydemir,
... D.S. Jackson C.E. Porteous M.E. Marchuk D.A. A second locus for hereditary hemorrhagic ... S. Mitchell G. Drouin E. Westermann C.J. Marchuk D.A. A combined syndrome of juvenile polyposis ...
Tópico(s): Tracheal and airway disorders
2013 - Elsevier BV | The American Journal of Human Genetics
Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha Nance, P. C. Gaskell, Jeffery M. Vance, Allison E. Ashley‐Koch, Margaret A. Pericak‐Vance,
... PC Dearlove A Pericak-Vance MA Rubinsztein DC Marchuk DA A kinesin heavy chain (KIF5A) mutation in ... Kail M Nance M Gaskell PC Svenson IK Marchuk DA Pericak-Vance MA Allison-Koch AE A ...
Tópico(s): Neurological diseases and metabolism
2006 - Elsevier BV | The American Journal of Human Genetics
Evon DeBose-Scarlett, Andrew K. Ressler, Carol J. Gallione, Gonzalo Sapisochin Cantis, Cassi Friday, Shantel Weinsheimer, Katharina Schimmel, Edda Spiekerkoetter, Helen Kim, James R. Gossage, Marie E. Faughnan, Douglas A. Marchuk,
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss of function mutation in one of three genes. Although individuals with HHT are haploinsufficient for one of these genes throughout their entire body, rather than exhibiting a systemic vascular phenotype, vascular malformations occur as focal lesions in discrete anatomic ...
Tópico(s): Tracheal and airway disorders
2024 - Elsevier BV | The American Journal of Human Genetics
Han Kyu Lee, Do Hoon Kwon, David L. Aylor, Douglas A. Marchuk,
Ischemic stroke, caused by vessel blockage, results in cerebral infarction, the death of brain tissue. Previously, quantitative trait locus (QTL) mapping of cerebral infarct volume and collateral vessel number identified a single, strong genetic locus regulating both phenotypes. Additional studies identified RAB GTPase-binding effector protein 2 (Rabep2) as the casual gene. However, there is yet no evidence that variation in the human ortholog of this gene plays any role in ischemic stroke outcomes. ...
Tópico(s): Protease and Inhibitor Mechanisms
2022 - Elsevier BV | The American Journal of Human Genetics
Yigit Karasozen, Joshua W. Osbun, Carolina A. Parada, Tina Busald, Philip D. Tatman, Luis F. Gonzalez‐Cuyar, Christopher J. Hale, Diana Alcantara, Mark O’Driscoll, William B. Dobyns, Mitzi L. Murray, Louis J. Kim, Peter H. Byers, Michael O. Dorschner, Manuel Ferreira,
... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ...
Tópico(s): Fibroblast Growth Factor Research
2019 - Elsevier BV | The American Journal of Human Genetics
Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse Caga-Anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen Wright Clayton, Gregory M. Cooper, Kelly M. East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Lewis, Carolyn M. Hutter, Pasi A. Jänne, Steven Joffe, David Kaufman, Bartha Maria Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Donna M. Muzny, R Myers, Deborah A. Nickerson, Jeffrey Ou, D. Williams Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan R. Robinson, Joseph S Salama, Sarah Scollon, Richard R. Sharp, Brian H. Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy‐Hornoch, David L. Veenstra, Nikhil Wagle, Karen E. Weck, Benjamin S. Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Joon‐Ho Yu, Michelle D. Amaral, Laura M. Amendola, Paul S. Appelbaum, Samuel Aronson, Shubhangi Arora, Danielle R. Azzariti, Gregory S. Barsh, E. Martina Bebin, Barbara B. Biesecker, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Brian Brown, Amber Burt, Peter H. Byers, Charlisse Caga-Anan, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Arul M. Chinnaiyan, Kurt D. Christensen, Wendy K. Chung, Allison L. Cirino, Ellen Wright Clayton, Laura K. Conlin, Gregory M. Cooper, David R. Crosslin, James V. Davis, Kelly Cue Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela M. Diamond, Michael O. Dorschner, Noreen P. Dugan, Dmitry Dukhovny, Matthew C. Dulik, Kelly M. East, Edgar A. Rivera‐Muñoz, Barbara J. Evans, James P. Evans, Jessica N. Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly K. Filipski, Candice R. Finnila, Kristen P. Fishler, Stephanie M. Fullerton, Bob Ghrundmeier, Karen Giles, Marian J. Gilmore, Zahra S. Girnary, Katrina A.B. Goddard, Stephen G. Gonsalves, Allan Gordon, Michele C. Gornick, William M. Grady, Stacy W. Gray, Stacy W. Gray, Robert C. Green, Robert Greenwood, Amanda M. Gutierrez, Paul K. J. Han, Ragan Hart, Patrick J. Heagerty, Gail E. Henderson, Naomi Hensman, Susan M. Hiatt, Patricia Himes, Lucia A. Hindorff, Fuki M. Hisama, Carolyn Y. Ho, Lily Hoffman‐Andrews, Ingrid A. Holm, Celine Hong, Martha Horike‐Pyne, Sara Chandros Hull, Carolyn M. Hutter, Seema M. Jamal, Gail P. Jarvik, Brian C. Jensen, Steven Joffe, Jennifer J. Johnston, Dean Karavite, Tia L. Kauffman, Dave Kaufman, Whitley V. Kelley, Jerry H. Kim, Christine Kirby, William M. P. Klein, Bartha Maria Knoppers, Barbara A. Koenig, Sek Won Kong, Ian D. Krantz, Joel B. Krier, Neil E. Lamb, Michele P. Lambert, Lan Q. Le, Matthew S. Lebo, Alexander Lee, Kaitlyn B. Lee, Niall J. Lennon, Michael C. Leo, Kathleen A. Leppig, Katie L. Lewis, Michelle Lewis, Neal I. Lindeman, Nicole C. Lockhart, Bob Lonigro, Edward J. Lose, Philip J. Lupo, Laura Lyman Rodriguez, Frances L. Lynch, Kalotina Machini, Calum A. MacRae, Teri A. Manolio, Daniel S. Marchuk, Josue Martinez, Aaron J. Masino, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Heather M. McLaughlin, Carmit K. McMullen, Piotr A. Mieczkowski, Jeff F. Miller, Victoria A. Miller, Rajen Mody, Sean D. Mooney, Elizabeth Moore, Elissa Morris, Michael F. Murray, Donna M. Muzny, R Myers, David Ng, Deborah A. Nickerson, Nelly Oliver, Jeffrey Ou, William H. Parsons, Donald L. Patrick, Jeffrey W. Pennington, Denise Perry, Gloria M. Petersen, Sharon E. Plon, Katie Porter, Bradford C. Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin Raesz-Martinez, Wendy H. Raskind, Heidi L. Rehm, Dean A. Reigar, Jacob A. Reiss, Carla A. Rich, C. Sue Richards, Christine Rini, Scott Roberts, Peggy D. Robertson, Dan R. Robinson, Jill O. Robinson, Marguerite Robinson, Myra I. Roche, Edward J. Romasko, Elisabeth A. Rosenthal, Joseph S Salama, Maria I. Scarano, Jennifer Schneider, Sarah Scollon, Christine E. Seidman, Bryce A. Seifert, Richard R. Sharp, Brian H. Shirts, Lynette M. Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V. Simons, Debra Skinner, Nancy B. Spinner, Elena M. Stoffel, Natasha T. Strande, Shamil Sunyaev, Virginia P. Sybert, Jennifer M. Taber, Holly K. Tabor, Peter Tarczy‐Hornoch, Deanne Taylor, Christian R. Tilley, Ashley N. Tomlinson, Susan Brown Trinidad, Ellen Tsai, Peter A. Ubel, Eliezer M. Van Allen, Jason L. Vassy, Pankaj Vats, David L. Veenstra, Victoria L. Vetter, Raymond De Vries, Nikhil Wagle, Sarah A. Walser, Rebecca Walsh, Karen E. Weck, Allison Werner‐Lin, Jana Whittle, Ben Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Yaping Yang, Jeffrey Ou, Joon‐Ho Yu, Brian J. Zikmund‐Fisher,
(The American Journal of Human Genetics 98, 1051–1066; June 2, 2016) In the originally published version of this article, the first name of Christian R. Tilley, a member of the CSER Consortium, was unfortunately misspelled. His name appears correctly here and online. The Journal apologizes for the error. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineGreen et al.The American Journal of Human GeneticsMay 12, 2016In BriefDespite rapid technical ...
Elsevier BV | The American Journal of Human Genetics
Young Hee Lim, Antonella Bacchiocchi, Jingyao Qiu, Robert F. Straub, Anna L. Bruckner, Lionel Bercovitch, Deepak Narayan, Jennifer M. McNiff, Christine J. Ko, Leslie Robinson‐Bostom, Richard J. Antaya, Ruth Halaban, Keith Choate,
... Frelin L.P. Cohen B. North P.E. Marchuk D.A. Comi A.M. Pevsner J. Sturge- ...
Tópico(s): Vascular Malformations Diagnosis and Treatment
2016 - Elsevier BV | The American Journal of Human Genetics
Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse Caga-Anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen Wright Clayton, Gregory M. Cooper, Kelly M. East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Lewis, Carolyn M. Hutter, Pasi A. Jänne, Steven Joffe, David Kaufman, Bartha Maria Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Donna M. Muzny, R Myers, Deborah A. Nickerson, Jeffrey Ou, D. Williams Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan R. Robinson, Joseph S Salama, Sarah Scollon, Richard R. Sharp, Brian H. Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy‐Hornoch, David L. Veenstra, Nikhil Wagle, Karen E. Weck, Benjamin S. Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Joon‐Ho Yu, Michelle D. Amaral, Laura M. Amendola, Paul S. Appelbaum, Samuel Aronson, Nonie S. Arora, Danielle R. Azzariti, Gregory S. Barsh, E. Martina Bebin, Barbara B. Biesecker, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Brian Brown, Amber Burt, Peter H. Byers, Charlisse Caga-Anan, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Arul M. Chinnaiyan, Kurt D. Christensen, Wendy K. Chung, Allison L. Cirino, Ellen Wright Clayton, Laura K. Conlin, Gregory M. Cooper, David R. Crosslin, James V. Davis, Kelly Cue Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela M. Diamond, Michael O. Dorschner, Noreen P. Dugan, Dmitry Dukhovny, Matthew C. Dulik, Kelly M. East, Edgar A. Rivera‐Muñoz, Barbara J. Evans, James P. Evans, Jessica N. Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly K. Filipski, Candice R. Finnila, Kristen P. Fishler, Stephanie M. Fullerton, Bob Ghrundmeier, Karen Giles, Marian J. Gilmore, Zahra S. Girnary, Katrina A.B. Goddard, Stephen G. Gonsalves, Allan Gordon, Michele C. Gornick, William M. Grady, Stacy W. Gray, Stacy W. Gray, Robert C. Green, Robert Greenwood, Amanda M. Gutierrez, Paul K. J. Han, Ragan Hart, Patrick J. Heagerty, Gail E. Henderson, Naomi Hensman, Susan M. Hiatt, Patricia Himes, Lucia A. Hindorff, Fuki M. Hisama, Carolyn Y. Ho, Lily Hoffman‐Andrews, Ingrid A. Holm, Celine Hong, Martha Horike‐Pyne, Sara Chandros Hull, Carolyn M. Hutter, Seema M. Jamal, Gail P. Jarvik, Brian C. Jensen, Steven Joffe, Jennifer J. Johnston, Dean Karavite, Tia L. Kauffman, Dave Kaufman, Whitley V. Kelley, Jerry H. Kim, Christine Kirby, William M. P. Klein, Bartha Maria Knoppers, Barbara A. Koenig, Sek Won Kong, Ian D. Krantz, Joel B. Krier, Neil E. Lamb, Michele P. Lambert, Lan Q. Le, Matthew S. Lebo, Alexander Lee, Kaitlyn B. Lee, Niall J. Lennon, Michael C. Leo, Kathleen A. Leppig, Katie L. Lewis, Michelle Lewis, Neal I. Lindeman, Nicole C. Lockhart, Bob Lonigro, Edward J. Lose, Philip J. Lupo, Laura Lyman Rodriguez, Frances L. Lynch, Kalotina Machini, Calum A. MacRae, Teri A. Manolio, Daniel S. Marchuk, Josue Martinez, Aaron J. Masino, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Heather M. McLaughlin, Carmit K. McMullen, Piotr A. Mieczkowski, Jeff F. Miller, Victoria A. Miller, Rajen Mody, Sean D. Mooney, Elizabeth Moore, Elissa Morris, Michael F. Murray, Donna M. Muzny, R Myers, David Ng, Deborah A. Nickerson, Nelly Oliver, Jeffrey Ou, William H. Parsons, Donald L. Patrick, Jeffrey W. Pennington, Denise Perry, Gloria M. Petersen, Sharon E. Plon, K. A. Porter, Bradford C. Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin Raesz-Martinez, Wendy H. Raskind, Heidi L. Rehm, Dean A. Reigar, Jacob A. Reiss, Carla A. Rich, C. Sue Richards, Christine Rini, Scott Alan Roberts, Peggy D. Robertson, Dan R. Robinson, Jill O. Robinson, Marguerite Robinson, Myra I. Roche, Edward J. Romasko, Elisabeth A. Rosenthal, Joseph S Salama, Maria I. Scarano, Jennifer Schneider, Sarah Scollon, Christine E. Seidman, Bryce A. Seifert, Richard R. Sharp, Brian H. Shirts, Lynette M. Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V. Simons, Debra Skinner, Nancy B. Spinner, Elena M. Stoffel, Natasha T. Strande, Shamil Sunyaev, Virginia P. Sybert, Jennifer M. Taber, Holly K. Tabor, Peter Tarczy‐Hornoch, Deanne Taylor, Christian R. Tilley, Ashley N. Tomlinson, Susan Brown Trinidad, Ellen Tsai, Peter A. Ubel, Eliezer M. Van Allen, Jason L. Vassy, Pankaj Vats, David L. Veenstra, Victoria L. Vetter, Raymond De Vries, Nikhil Wagle, Sarah A. Walser, Rebecca Walsh, Karen E. Weck, Allison Werner‐Lin, Jana Whittle, Ben Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Yaping Yang, Jeffrey Ou, Joon‐Ho Yu, Brian J. Zikmund‐Fisher,
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring ...
Elsevier BV | The American Journal of Human Genetics
Javier Couto, Matthew P. Vivero, Harry P. Kozakewich, Amir H. Taghinia, John B. Mulliken, Matthew L. Warman, Arin K. Greene,
... Diamonti A.J. Goumnerov B. Pasyk K.A. Marchuk D.A. Warman M.L. Cantley L.C. ...
Tópico(s): Vascular Anomalies and Treatments
2015 - Elsevier BV | The American Journal of Human Genetics
Produção Nacional
Revisado por pares
Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau,
... Kail ME Nance MA Gaskell PC Svenson IK Marchuk DA Pericak-Vance MA Ashley-Koch AE A ...
Tópico(s): Neurological diseases and metabolism
2006 - Elsevier BV | The American Journal of Human Genetics
Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen,
... PDF PubMed Scopus (705) Google Scholar, 3Ballester R Marchuk D Boguski M Saulino A Letcher R Wigler ...
Tópico(s): Vascular Malformations Diagnosis and Treatment
2007 - Elsevier BV | The American Journal of Human Genetics
Erin L. Heinzen, Woohyun Yoon, Sarah K. Tate, Arjune Sen, Nicholas Wood, Sanjay M. Sisodiya, David B. Goldstein,
... Plasmid pSPL3 was kindly provided by Dr. Douglas Marchuk (Duke University). We also thank Kenneth Cronin for ...
Tópico(s): Drug Transport and Resistance Mechanisms
2007 - Elsevier BV | The American Journal of Human Genetics
Carolina Marchuk, Laura Legal,
Valorar de forma objetiva y mensurable la influencia inmediata de la maniobra lift de vejiga sobre el umbral del dolor (UDP) del punto gatillo del tibial anterior (PGTA) y de la apófisis espinosa de lumbar 5 (AEL5). Estudio experimental, controlado, aleatorizado simple, cegado, sobre una muestra de 86 pacientes (dos grupos de 43) de cualquier sexo (44 varones y 42 mujeres), con edades comprendidas entre los 20 y los 60 años. El criterio de inclusión fue la presencia del punto doloroso con banda tensa ...
Tópico(s): Shoulder Injury and Treatment
2010 - Elsevier BV | Osteopatía Científica
Evon DeBose-Scarlett, Andrew K. Ressler, Carol J. Gallione, Gonzalo Sapisochin Cantis, Cassi Friday, Shantel Weinsheimer, Katharina Schimmel, Edda Spiekerkoetter, Helen Kim, James R. Gossage, Marie E. Faughnan, Douglas A. Marchuk,
Tópico(s): Vascular Anomalies and Treatments
2025 - Elsevier BV | The American Journal of Human Genetics
Daniel S. Greenspan, K.A. Papenberg, Douglas A. Marchuk,
Type V collagen is the only fibrillar collagen which has yet to be implicated in the pathogenesis of genetic diseases in humans or mice. To begin examining the possible role of type V collagen in genetic disease, we have previously mapped COL5A1, the gene for the {alpha}1 chain of type V collagen, to 9q23.2{r_arrow}q34.3 and described two restriction site polymorphisms which allowed us to exclude COL5A1 as candidate gene for nail-patella syndrome. We have now used these polymorphisms to exclude COL5A1 ...
Tópico(s): Vascular Malformations and Hemangiomas
1994 - Elsevier BV | The American Journal of Human Genetics