Zobrazeno 1 - 9
of 9
pro vyhledávání: '"June Ortenberg"'
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
Autor:
Michael B. Bober, Eric Legius, Rachel Hachen, Sarah L. Ruppert, Tomi L. Toler, Jennifer Williams, Ludwine Messiaen, Hilde Brems, Misti Williams, Merel van Maarle, Elizabeth Siqveland, June Ortenberg, Marie T. McDonald, Ignace Samson, Alicia G. Gomes, Leonard B. Kaban, Joseph J. Shen, Hua Li, Tom Callens, Serge Melançon, Margaret R. Wallace, Angela E. Lin, Robert A. Saul, Kathleen Claes, Heather B. Radtke, Douglas R. Stewart
Publikováno v:
Genetics in medicine, 16(6), 448-459. Lippincott Williams and Wilkins
“Jaffe–Campanacci syndrome” describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and cafe-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe–Campanac
Autor:
Mahshad Darvish-Zargar, Laura Segal, Marie-Emmanuelle Dilenge, Robert C. Polomeno, June Ortenberg
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 14:155-158
Background Children born with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. The aim of this study is to evaluate the clinical course of NF1 patients with OPGs at our institution wit
Autor:
Nader Chalhoub, Bernard Lemieux, June Ortenberg, Lijuan Fang, Josué Feingold, Jean-Paul Thirion, Wentian Li
Publikováno v:
American Journal of Medical Genetics. 104:189-198
Department of Genetics, The McGill University-Montreal Children’s Hospital Research Institute, Montreal, CanadaWe genotyped 19 NF1 families from theFrench Canadians of the Que´bec populationwith six intragenic polymorphic markersincluding 2 RFLPs
Autor:
June Ortenberg, Patrice Eydoux, Kelly A. Collins, Kenneth Silver, Vazken M. Der Kaloustian, Alessandra M. V. Duncan
Publikováno v:
American Journal of Medical Genetics. 91:345-347
We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The kar
Autor:
Carolyn R. Freeman, June Ortenberg, Jean-Pierre Farmer, Saad A. Khan, Asad U. Khan, Augustin M. O'Gorman, José L. Montes
Publikováno v:
Pediatric neurosurgery. 37(3)
Children with neurofibromatosis type 1 (NF1) undergo costly surveillance scanning for a variety of asymptomatic central nervous system lesions whose natural history is poorly understood. We performed a 20-year retrospective chart review of 25 patient
Publikováno v:
Annales de genetique. 45(1)
We genotyped 19 neurofibromatosis type 1 (NF1) families from French Canadians of the Quebec population with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Linkage analysis of the four microsatellite markers am
Publikováno v:
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 120(5)
Autor:
David Viskochil, Karen Stephens, Kathleen A. Leppig, June Ortenberg, Paige Kaplan, Molly Weaver
Publikováno v:
American journal of medical genetics. 73(2)
A notable subset of the recent literature on the disorder neurofibromatosis type 1 (NF1) describes patients with NF1, facial anomalies, and other unusual findings. We describe a molecular re-evaluation of two such families reported previously by Kapl