PMC Links for Books (Select 2337840) - PMC

Select item 71964731.

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew S Lebo, Heather Mason‐Suares

Mol Genet Genomic Med. 2020 Apr; 8(4): e1180. Published online 2020 Feb 27. doi: 10.1002/mgg3.1180

PMCID:: PMC7196473

Select item 67920902.

Targeted Genomic Profiling of Acral Melanoma

Iwei Yeh, Eric Jorgenson, Ling Shen, Mengshu Xu, Jeffrey P North, A Hunter Shain, David Reuss, Hong Wu, William A Robinson, Adam Olshen, Andreas von Deimling, Pui-Yan Kwok, Boris C Bastian, Maryam M Asgari

J Natl Cancer Inst. 2019 Oct; 111(10): 1068–1077. Published online 2019 Jan 18. doi: 10.1093/jnci/djz005

PMCID:: PMC6792090

Abstract Article PDF–1.6M

Select item 67522853.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C. Digilio, Shelley K. Dills, Laura Dosa, Robert S. Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J. Jones, Justin T. Jordan, Peter Kannu, Bruce R. Korf, Andrea M. Lewis, Robert H. Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie T. McDonald, Carey McDougall, Nancy Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A. Pond, Linda M. Randolph, Katherine A. Rauen, Surya Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela L. Trapane, Nicole J. Ullrich, Emily G. Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine Zackai, Kathleen B. M. Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M. Messiaen

Genet Med. 2019; 21(4): 867–876. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0269-0

Correction in:: Genet Med. 2019; 21(3): 764–765.

PMCID:: PMC6752285

Abstract Article PDF–349K

Select item 67226414.

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Anna Grandone, Maria Elena Onore, Mariarosa Anna Beatrice Melone, Giulia Straccia, Daniela Melis, Vincenzo Piccolo, Giuseppe Limongelli, Salvatore Buono, Silverio Perrotta, Vincenzo Nigro, Giulio Piluso

Genes (Basel) 2019 Aug; 10(8): 580. Published online 2019 Jul 31. doi: 10.3390/genes10080580

PMCID:: PMC6722641

Abstract Article PDF–302K

Select item 66393235.

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

Felicity Newell, Yan Kong, James S. Wilmott, Peter A. Johansson, Peter M. Ferguson, Chuanliang Cui, Zhongwu Li, Stephen H. Kazakoff, Hazel Burke, Tristan J. Dodds, Ann-Marie Patch, Katia Nones, Varsha Tembe, Ping Shang, Louise van der Weyden, Kim Wong, Oliver Holmes, Serigne Lo, Conrad Leonard, Scott Wood, Qinying Xu, Robert V. Rawson, Pamela Mukhopadhyay, Reinhard Dummer, Mitchell P. Levesque, Göran Jönsson, Xuan Wang, Iwei Yeh, Hong Wu, Nancy Joseph, Boris C. Bastian, Georgina V. Long, Andrew J. Spillane, Kerwin F. Shannon, John F. Thompson, Robyn P. M. Saw, David J. Adams, Lu Si, John V. Pearson, Nicholas K. Hayward, Nicola Waddell, Graham J. Mann, Jun Guo, Richard A. Scolyer

Nat Commun. 2019; 10: 3163. Published online 2019 Jul 18. doi: 10.1038/s41467-019-11107-x

PMCID:: PMC6639323

Abstract Article PDF–1.2M

Select item 64759246.

Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma

Julien Ablain, Mengshu Xu, Harriet Rothschild, Richard C. Jordan, Jeffrey K. Mito, Brianne H. Daniels, Caitlin F. Bell, Nancy M. Joseph, Hong Wu, Boris C. Bastian, Leonard I. Zon, Iwei Yeh

Science. Author manuscript; available in PMC 2019 Apr 22.

Published in final edited form as: Science. 2018 Nov 30; 362(6418): 1055–1060. Published online 2018 Nov 1. doi: 10.1126/science.aau6509

PMCID:: PMC6475924

Abstract Article PDF–1.2M

Select item 50496097.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat‐Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius, Ludwine Messiaen

Hum Mutat. 2015 Nov; 36(11): 1052–1063. Published online 2015 Aug 21. doi: 10.1002/humu.22832

PMCID:: PMC5049609

Abstract Article PDF–226K

Select item 49414458.

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation

Theresia Dunzendorfer-Matt, Ellen L. Mercado, Karl Maly, Frank McCormick, Klaus Scheffzek

Proc Natl Acad Sci U S A. 2016 Jul 5; 113(27): 7497–7502. Published online 2016 Jun 16. doi: 10.1073/pnas.1607298113

PMCID:: PMC4941445

Abstract Article PDF–1.1M

Select item 49093779.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

D.G. Evans, N. Bowers, E. Burkitt-Wright, E. Miles, S. Garg, V. Scott-Kitching, M. Penman-Splitt, A. Dobbie, E. Howard, J. Ealing, G. Vassalo, A.J. Wallace, W. Newman, Northern UK NF1 Research Network, S.M. Huson

EBioMedicine. 2016 May; 7: 212–220. Published online 2016 Apr 13. doi: 10.1016/j.ebiom.2016.04.005

PMCID:: PMC4909377

Abstract Article PDF–358K

Select item 475136010.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

Yasuko Hirata, Hilde Brems, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Rimpei Morita, Isabel Llano-Rivas, Toyoyuki Ose, Ludwine Messiaen, Eric Legius, Akihiko Yoshimura

J Biol Chem. 2016 Feb 12; 291(7): 3124–3134. Published online 2015 Dec 3. doi: 10.1074/jbc.M115.703710

Correction in:: J Biol Chem. 2016 Feb 12; 291(7): 3135.

PMCID:: PMC4751360

Abstract Article PDF–2.1M

Select item 473192511.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 440262412.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Eric Pasmant, Béatrice Parfait, Armelle Luscan, Philippe Goussard, Audrey Briand-Suleau, Ingrid Laurendeau, Corinne Fouveaut, Chrystel Leroy, Annelore Montadert, Pierre Wolkenstein, Michel Vidaud, Dominique Vidaud

Eur J Hum Genet. 2015 May; 23(5): 596–601. Published online 2014 Jul 30. doi: 10.1038/ejhg.2014.145

PMCID:: PMC4402624

Abstract Article PDF–650K

Select item 432321313.

Legius syndrome: case report and review of literature

Elisa Benelli, Irene Bruno, Chiara Belcaro, Alessandro Ventura, Irene Berti

Ital J Pediatr. 2015; 41: 8. Published online 2015 Feb 8. doi: 10.1186/s13052-015-0115-9

PMCID:: PMC4323213

Abstract Article PDF–595K

Select item 340301014.

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

Irma B. Stowe, Ellen L. Mercado, Timothy R. Stowe, Erika L. Bell, Juan A. Oses-Prieto, Hilda Hernández, Alma L. Burlingame, Frank McCormick

Genes Dev. 2012 Jul 1; 26(13): 1421–1426. doi: 10.1101/gad.190876.112

PMCID:: PMC3403010

Abstract Article PDF–1.4M

Select item 324306415.

SPRED1 Mutations in a Neurofibromatosis Clinic

Talia M Muram-Zborovski, David A Stevenson, David H Viskochil, David C Dries, Andrew R Wilson, Rong Mao

J Child Neurol. Author manuscript; available in PMC 2011 Dec 20.

Published in final edited form as: J Child Neurol. 2010 Oct; 25(10): 1203–1209. Published online 2010 Feb 22. doi: 10.1177/0883073809359540

PMCID:: PMC3243064

Abstract Article PDF–1.0M

Select item 308163316.

Observations on Intelligence and Behavior in 15 Patients with Legius Syndrome

Ellen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, Kathelijn Keymolen, Ellen Plasschaert, Sarah L Ruppert, Joseph Snow, Audrey E Thurm, Lisa A Joseph, Jean-Pierre Fryns, Eric Legius

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2012 May 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 123–128. Published online 2011 Apr 14. doi: 10.1002/ajmg.c.30297

PMCID:: PMC3081633

Abstract Article PDF–295K

Select item 303832517.

Legius Syndrome in Fourteen Families

Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans MW Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert, Takuma Ishizaki, Tomoaki Mori, Kathelijn Keymolen, Jenneke Van den Ende, Elisabeth Mangold, Sirkku Peltonen, Glen Brice, Julia Rankin, Karin Y Van Spaendonck-Zwarts, Akihiko Yoshimura, Eric Legius

Hum Mutat. 2011 Jan; 32(1): E1985–E1998. doi: 10.1002/humu.21404

PMCID:: PMC3038325

Abstract Article PDF–644K

Select item 274311618.

The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation

William E. Tidyman, Katherine A. Rauen

Curr Opin Genet Dev. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: Curr Opin Genet Dev. 2009 Jun; 19(3): 230–236. Published online 2009 May 19. doi: 10.1016/j.gde.2009.04.001

PMCID:: PMC2743116

Abstract Article PDF–415K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 18

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity