Zobrazeno 1 - 4
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pro vyhledávání: '"Hachen, Rachel K"'
Autor:
Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M
Publikováno v:
Human Mutation
Human mutation
HUMAN MUTATION
Human mutation
HUMAN MUTATION
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
Akademický článek
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Akademický článek
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Autor:
Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Azizi AA; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Basel DG; Children's Hospital of Wisconsin, Milwaukee, WI, USA., Bellus G; Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado School of Medicine, Denver, Aurora, CO, USA., Bird LM; Department of Pediatrics, University of California San Diego; Division of Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA., Blazo MA; Baylor Scott and White Hospital, Temple, TX, USA., Burke LW; Clinical Genetics Program, University of Vermont Medical Center, Burlington, VT, USA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Collins F; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., DeFilippo C; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, CA, USA., Denayer E; Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's, IRCCS, Rome, Italy., Dills SK; Carolinas Medical Center, Charlotte, NC, USA., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Greenwood RS; Department of Neurology, Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA., Griffis C; Children's Hospital of Wisconsin, Milwaukee, WI, USA., Gupta P; Neurofibromatosis Diagnostic & Treatment Program, St. Joseph's Children's Hospital, Paterson, NJ, USA., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain.; Center for Biomedical Research-Network of Rare Diseases (CIBERER), Valencia, Spain., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Jones KJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Jordan JT; Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA, USA., Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Lonardo F; Medical Genetics Unit, G. Rummo Hospital, Benevento, Italy., Mahoney MJ; Department of Genetics, Yale University, New Haven, CT, USA., Ojeda MM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Mori M; Department of Pediatrics, Warren Alpert Medical School, Brown University, Providence, RI, USA., Oostenbrink R; Department of General Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands., Perreault S; CHU Sainte-Justine, Mother and Child University Hospital Center, Montréal, QC, Canada., Pierpont ME; Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, MN, USA., Piscopo C; U.O.S.C. Medical Genetics, A.O.R.N. 'A. Cardarelli', Naples, Italy., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA., Randolph LM; Division of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Rauen KA; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, CA, USA., Rednam S; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Saletti V; Developmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy., Schaefer GB; Division of Medical Genetics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Shugar A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, MN, USA., Starr LJ; Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Syed A; DCH Regional Medical Center and Northport Medical Center, Northport, AL, USA., Trapane PL; Stead Family Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, IA, USA., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Wakefield EG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Walsh LE; Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., van Minkelen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., De Luca A; IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, San Giovanni Rotondo, Foggia, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain.; Center for Biomedical Research-Network of Rare Diseases (CIBERER), Valencia, Spain., Legius E; Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. lmessiaen@uabmc.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 764-765.