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6 results on '"Yim Dwight"'

1. Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

Author

Kaurah, Pardeep, MacMillan, Andrée, Boyd, Niki, Senz, Janine, De Luca, Alessandro, Chun, Nicki, Suriano, Gianpaolo, Zaor, Sonya, Van Manen, Lori, Gilpin, Cathy, Nikkel, Sarah, Connolly-Wilson, Mary, Weissman, Scott, Rubinstein, Wendy S., Sebold, Courtney, Greenstein, Robert, Stroop, Jennifer, Yim, Dwight, Panzini, Benoit, McKinnon, Wendy, Greenblatt, Marc, Wirtzfeld, Debrah, Fontaine, Daniel, Coit, Daniel, Yoon, Sam, Chung, Daniel, Lauwers, Gregory, Pizzuti, Antonio, Vaccaro, Carlos, Redal, Maria Ana, Oliveira, Carla, Tischkowitz, Marc, Olschwang, Sylviane, Gallinger, Steven, Lynch, Henry, Green, Jane, Ford, James, Pharoah, Paul, Fernandez, Bridget, and Huntsman, David

Published
2007

3. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Author

Hiatt, Susan M., primary, Neu, Matthew B., additional, Ramaker, Ryne C., additional, Hardigan, Andrew A., additional, Prokop, Jeremy W., additional, Hancarova, Miroslava, additional, Prchalova, Darina, additional, Havlovicova, Marketa, additional, Prchal, Jan, additional, Stranecky, Viktor, additional, Yim, Dwight K. C., additional, Powis, Zöe, additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Rio, Marlene, additional, Revah-Politi, Anya, additional, Hemati, Parisa, additional, Stong, Nicholas, additional, Iglesias, Alejandro D., additional, Suchy, Sharon F., additional, Willaert, Rebecca, additional, Wentzensen, Ingrid M., additional, Wheeler, Patricia G., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Hurst, Anna C. E., additional, Wheless, James W., additional, Lacassie, Yves, additional, Myers, Richard M., additional, Barsh, Gregory S., additional, Sedlacek, Zdenek, additional, and Cooper, Gregory M., additional

Published
2018
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4. De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Author

Hiatt, Susan M., primary, Neu, Matthew B., additional, Ramaker, Ryne C., additional, Hardigan, Andrew A., additional, Prokop, Jeremy W., additional, Hancarova, Miroslava, additional, Prchalova, Darina, additional, Havlovicova, Marketa, additional, Prchal, Jan, additional, Stranecky, Viktor, additional, Yim, Dwight K.C., additional, Powis, Zöe, additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Rio, Marlene, additional, Revah-Politi, Anya, additional, Hemati, Parisa, additional, Stong, Nicholas, additional, Iglesias, Alejandro D., additional, Suchy, Sharon F., additional, Willaert, Rebecca, additional, Wentzensen, Ingrid M., additional, Wheeler, Patricia G., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Hurst, Anna C.E., additional, Wheless, James W., additional, Lacassie, Yves, additional, Myers, Richard M., additional, Barsh, Gregory S., additional, Sedlacek, Zdenek, additional, and Cooper, Gregory M., additional

Published
2018
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5. RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Author

Marc Abramowicz, Felicity Collins, Philippe Clapuyt, Christine Léauté-Labrèze, Brid O'Donnell, Julie Désir, Eulalia Baselga, María Antonia González-Enseñat, Antonella Mendola, Nicola Brunetti-Pierri, Yim Dwight, Nicole Revencu, Victoria R. Barrio, David J.E. Lord, Lesley C. Adès, David J. Amor, Mariarosaria Cozzolino, Orli Wargon, Shelagh Joss, Frank Hammer, Susan J. Bayliss, Josée Dubois, Didier Bessis, María del Carmen Boente, Leona Fishman, Wendy K. Chung, Miikka Vikkula, Oon T. Tan, Yolanda Gilaberte, Laurence M. Boon, Cheryl Cytrynbaum, Juliette Mazereeuw-Hautier, Carol A. Gardiner, Patricia E. Burrows, Sarah A. Sandaradura, Fred Ghali, Maria R. Cordisco, Alan D. Irvine, Asunción Vicente, Catheline Vilain, John B. Mulliken, Aicha Salhi, Francine Blei, Loreto Martorell, Anne Dompmartin, Janine Smith, Ashley Wilson, S. Syed, Sarah L. Chamlin, Ana Martín-Santiago, Marie Ange Delrue, Reed E. Pyeritz, Revencu, N, Boon, Lm, Mendola, A, Cordisco, Mr, Dubois, J, Clapuyt, P, Hammer, F, Amor, Dj, Irvine, Ad, Baselga, E, Dompmartin, A, Syed, S, Martin Santiago, A, Ades, L, Collins, F, Smith, J, Sandaradura, S, Barrio, Vr, Burrows, Pe, Blei, F, Cozzolino, M, BRUNETTI PIERRI, Nicola, Vicente, A, Abramowicz, M, D?sir, J, Vilain, C, Chung, Wk, Wilson, A, Gardiner, Ca, Dwight, Y, Lord, Dj, Fishman, L, Cytrynbaum, C, Chamlin, S, Ghali, F, Gilaberte, Y, Joss, S, Boente Mdel, C, L?aut? Labr?ze, C, Delrue, Ma, Bayliss, S, Martorell, L, Gonz?lez Ense?at, Ma, Mazereeuw Hautier, J, O'Donnell, B, Bessis, D, Pyeritz, Re, Salhi, A, Tan, Ot, Wargon, O, Mulliken, Jb, and Vikkula, M.

Subjects
Male, Pathology, medicine.medical_specialty, Capillary malformation, DNA Mutational Analysis, Port-Wine Stain, Sturge–Weber syndrome, arteriovenous malformation, P120 GTPase Activating Protein, Sturge-Weber syndrome, Biology, medicine.disease_cause, Arteriovenous Malformations, Gene Order, Genetics, medicine, Humans, Prospective Studies, Allele, Genetic Association Studies, Genetics (clinical), Retrospective Studies, Mutation, capillary malformation, p120 GTPase Activating Protein, Arteriovenous malformation, medicine.disease, Parkes Weber syndrome, Capillaries, Glomuvenous malformation, Phenotype, Amino Acid Substitution, Female, RASA1
Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n=100), common CM(s) (port-wine stain; n=100), Sturge-Weber syndrome (n=37), or isolated AVM(s) (n=24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the second-hit hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. (C) 2013 Wiley Periodicals, Inc.

Published
2013
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