المؤلفون: Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia., Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy., Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia., Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina., Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile., Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey., Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lichty A; Greenwood Genetic Center, Greenwood, South Carolina., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa., Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York., Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota., Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine., Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy., Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama., Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas., Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia., Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

المصدر: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Alleles* , Genetic Association Studies* , Genetic Predisposition to Disease* , Mutation, Missense*, Neurofibromatosis 1/*diagnosis , Neurofibromatosis 1/*genetics , Neurofibromin 1/*genetics, Amino Acid Substitution ; Cross-Sectional Studies ; Heterozygote ; Humans ; Phenotype

المؤلفون: Rauen KA; Department of Pediatics, Division of Genomic Medicine, University of California Davis, Sacramento, California., Alsaegh A; Genetics Department, Sultan Qaboos University and Hospital, Muscat, Oman., Ben-Shachar S; Genetics Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Illinois., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, Australia., Blakeley J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland., Cordeiro I; Hospital Santa Maria, Lisbon, Portugal., Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, Netherlands., Evans DG; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Fisher MJ; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Frayling IM; Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom., George J; Salford Royal NHS Foundation Trust, Manchester, United Kingdom., Huson SM; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Kerr B; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Khire U; Allomek Therapeutics, Farmington, Connecticut., Korf B; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Legius E; Center for Human Genetics, University Hospitals Leuven and KULeuven, Belgium., Messiaen L; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., van Minkelen R; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, Netherlands., Nampoothiri S; Amrita Institute of Medical Sciences, Kochi, Kerala, India., Ngeow J; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore., Parada LF; Memorial Sloan Kettering Cancer Center, New York, New York., Phadke S; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Pillai A; Amrita Institute of Medical Sciences, Kochi, Kerala, India., Plotkin SR; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Puri R; Sir Ganga Ram Hospital, New Delhi, India., Raji A; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Ramesh V; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Ratner N; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio., Shankar SP; Department of Pediatics, Division of Genomic Medicine, University of California Davis, Sacramento, California., Sharda S; MEDGENOME Labs, Bangalore, India., Tambe A; Royal Manchester Children's Hospital, Manchester, United Kingdom., Vikkula M; University of Louvain, Brussels, Belgium., Widemann BC; NCI Center for Cancer Research, Bethesda, Maryland., Wolkenstein P; Henri-Mondor University and Hospital, Paris, France., Upadhyaya M; Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 1091-1097. Date of Electronic Publication: 2019 Mar 25.

نوع المنشور: Congress; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease*, Mitogen-Activated Protein Kinases/*genetics , Neurofibromatoses/*etiology , ras Proteins/*genetics, Biomarkers ; Disease Management ; Humans ; Mitogen-Activated Protein Kinases/metabolism ; Molecular Diagnostic Techniques ; Molecular Targeted Therapy ; Neurofibromatoses/diagnosis ; Neurofibromatoses/therapy ; Signal Transduction ; Translational Research, Biomedical ; ras Proteins/metabolism

المؤلفون: Wang X; H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida. xia.wang@moffitt.org., Kallionpää RA; Department of Dermatology and Venereology, Institute of Biomedicine, University of Turku, Turku, Finland., Gonzales PR; The University of Alabama at Birmingham, Birmingham, Alabama., Chitale DA; Henry Ford Hospital, Detroit, Michigan., Tousignant RN; GeneDx, Gaithersburg, Maryland., Crowley JP; Thermo Fisher Scientific, Tampa, Florida., Chen Z; H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida., Yoder SJ; H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida., Blakeley JO; Johns Hopkins Hospital and Health System, Baltimore, Maryland., Acosta MT; Children's National Health System, George Washington University, Washington, DC., Korf BR; The University of Alabama at Birmingham, Birmingham, Alabama., Messiaen LM; The University of Alabama at Birmingham, Birmingham, Alabama., Tainsky MA; Wayne State University, Detroit, Michigan.

المصدر: Cancer prevention research (Philadelphia, Pa.) [Cancer Prev Res (Phila)] 2018 Oct; Vol. 11 (10), pp. 655-664. Date of Electronic Publication: 2018 Aug 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101479409 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-6215 (Electronic) Linking ISSN: 19406215 NLM ISO Abbreviation: Cancer Prev Res (Phila) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Breast Neoplasms/*genetics , Neurofibromatosis 1/*genetics , Neurofibromin 1/*genetics , Receptor, ErbB-2/*genetics, Breast Neoplasms/pathology ; Cyclin-Dependent Kinase 4/genetics ; DNA Mutational Analysis ; Datasets as Topic ; Female ; Gene Dosage ; Gene Expression Regulation, Neoplastic ; Germ-Line Mutation ; Humans ; Loss of Heterozygosity ; Neurofibromatosis 1/complications ; Receptor, ErbB-2/metabolism

المؤلفون: Piotrowski A; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland. [3]., Xie J; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2]., Liu YF; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Poplawski AB; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gomes AR; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Madanecki P; Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland., Fu C; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Crowley MR; Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA., Crossman DK; Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Babovic-Vuksanovic D; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Bergner A; Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA., Blakeley JO; Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA., Blumenthal AL; Lakeridge Health Corporation, Oshawa, Ontario, Canada., Daniels MS; Clinical Cancer Genetics Program, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA., Feit H; Department of Neurology, Henry Ford Hospital, Detroit, Michigan, USA., Gardner K; Department of Neurology, Veterans Administration Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Hurst S; Lakeridge Health Corporation, Oshawa, Ontario, Canada., Kobelka C; Kaiser Permanente Genetics Northern California, San Francisco, California, USA., Lee C; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA., Nagy R; Department of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Rauen KA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA., Slopis JM; Department of Neuro-Oncology, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA., Suwannarat P; Kaiser Permanente Genetics Northern California, San Francisco, California, USA., Westman JA; Department of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Zanko A; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA., Korf BR; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA., Messiaen LM; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

المصدر: Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 182-7. Date of Electronic Publication: 2013 Dec 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Models, Molecular* , Protein Conformation*, Chromosomes, Human, Pair 22/*genetics , Genetic Predisposition to Disease/*genetics , Germ-Line Mutation/*genetics , Neurilemmoma/*genetics , Transcription Factors/*genetics, Base Sequence ; Chromosomal Proteins, Non-Histone/genetics ; DNA, Complementary/genetics ; DNA-Binding Proteins/genetics ; Gene Components ; Genes, Dominant/genetics ; Humans ; Loss of Heterozygosity ; Microsatellite Repeats/genetics ; Molecular Sequence Data ; Neurofibromatosis 2/genetics ; Pedigree ; SMARCB1 Protein ; Sequence Analysis, DNA ; Transcription Factors/chemistry

المؤلفون: Boyd KP; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A

المصدر: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2010 Sep; Vol. 63 (3), pp. 440-7. Date of Electronic Publication: 2010 Jun 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 7907132 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6787 (Electronic) Linking ISSN: 01909622 NLM ISO Abbreviation: J Am Acad Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Cafe-au-Lait Spots/*genetics , Neurofibromatosis 1/*genetics, Adolescent ; Adult ; Age Factors ; Cafe-au-Lait Spots/complications ; Cafe-au-Lait Spots/diagnosis ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genetic Variation ; Humans ; Male ; Middle Aged ; Mutation ; Mutation, Missense ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnosis ; Phenotype ; Prognosis ; Retrospective Studies ; Sex Factors ; Spectrophotometry ; Young Adult

المؤلفون: Claes K; Center for Medical Genetics, Ghent University Hospital, Belgium. Kathleen.Claes@rug.ac.be, Poppe B, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L

المصدر: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2003 Jul; Vol. 37 (3), pp. 314-20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Print ISSN: 1045-2257 (Print) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Genes, BRCA1* , Genes, BRCA2* , Mutation*, Genetic Predisposition to Disease/*genetics , Polymorphism, Genetic/*genetics , RNA Splice Sites/*genetics, Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Breast Neoplasms, Male/genetics ; Breast Neoplasms, Male/pathology ; Cell Line, Transformed ; Female ; Frameshift Mutation/genetics ; Humans ; Male ; Middle Aged ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Reading Frames/genetics

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

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8m17h094

المؤلفون: 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

المساهمون: 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

المصدر: Human Mutation
Human mutation
HUMAN MUTATION

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, INDEPENDENT NF1, Neurofibromatosis 1, NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149, NOONAN-SYNDROME, Mutation, Missense, PULMONARY STENOSIS, AU-LAIT SPOTS, Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Met1149, Alleles, Genetic Association Studies, Research Articles, Arg1276, Genetics & Heredity, SPINAL NEUROFIBROMATOSIS, Science & Technology, Neurofibromin 1, MUTATIONS, OPTIC PATHWAY TUMORS, NATURAL-HISTORY, genotype–phenotype correlation, SOUTH EAST WALES, nervous system diseases, Lys1423, Cross-Sectional Studies, Phenotype, Amino Acid Substitution, Human medicine, Life Sciences & Biomedicine, Research Article

وصف الملف: Print-Electronic; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8e6812a2caa160ce6729e5fdb8b7d05e
https://pubmed.ncbi.nlm.nih.gov/31595648

المؤلفون: Boyd, Kevin P., Gao, Liyan, Feng, Rui, Beasley, Mark, Messiaen, Ludwine, Korf, Bruce R., Theos, Amy

مصطلحات موضوعية: Adult, Male, Neurofibromatosis 1, Adolescent, Cafe-au-Lait Spots, Age Factors, Mutation, Missense, Genetic Variation, Middle Aged, Prognosis, Article, Cohort Studies, Young Adult, Phenotype, Sex Factors, Spectrophotometry, Child, Preschool, Mutation, Humans, Female, Genetic Predisposition to Disease, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::45454f84207731fa4f8e92b42c0107a2
https://europepmc.org/articles/PMC2922676/