换一批Clinical spectrum of individuals with pathogenic N F1 N N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
第一作者：
Koczkowska Magdalena
作者：
Koczkowska Magdalena [1]
;
Callens Tom [2]
;
Chen Yunjia [3]
;
Gomes Alicia [4]
;
Hicks Alesha D. [5]
;
Sharp Angela [6]
;
Johns Eric [7]
;
Uhas Kim Armfield [8]
;
Armstrong Linlea [9]
;
Bosanko Katherine Armstrong [10]
;
Babovic‐Vuksanovic Dusica [11]
;
Baker Laura [12]
;
Basel Donald G. [13]
;
Bengala Mario [14]
;
Bennett James T. [15]
;
Chambers Chelsea [16]
;
Clarkson Lola K. [17]
;
Clementi Maurizio [18]
;
Cortés Fanny M. [19]
;
Cunningham Mitch [20]
;
D'Agostino M. Daniela [21]
;
Delatycki Martin B. [22]
;
Digilio Maria C. [23]
;
Dosa Laura [24]
;
Esposito Silvia [25]
;
Fox Stephanie [26]
;
Freckmann Mary‐Louise [27]
;
Fauth Christine [28]
;
Giugliano Teresa [29]
;
Giustini Sandra [30]
;
Goetsch Allison [31]
;
Goldberg Yael [32]
;
Greenwood Robert S. [33]
;
Griffis Cristin [34]
;
Gripp Karen W. [35]
;
Gupta Punita [36]
;
Haan Eric [37]
;
Hachen Rachel K. [38]
;
Haygarth Tamara L. [39]
;
Hernández‐Chico Concepción [40]
;
Hodge Katelyn [41]
;
Hopkin Robert J. [42]
;
Hudgins Louanne [43]
;
Janssens Sandra [44]
;
Keller Kory [45]
;
Kelly‐Mancuso Geraldine [46]
;
Kochhar Aaina [47]
;
Korf Bruce R. [48]
;
Lewis Andrea M. [49]
;
Liebelt Jan [50]
;
Lichty Angie [51]
;
Listernick Robert H. [52]
;
Lyons Michael J. [53]
;
Maystadt Isabelle [54]
;
Martinez Ojeda Mayra [55]
;
McDougall Carey [56]
;
McGregor Lesley K. [57]
;
Melis Daniela [58]
;
Mendelsohn Nancy [59]
;
Nowaczyk Malgorzata J.M. [60]
;
Ortenberg June [61]
;
Panzer Karin [62]
;
Pappas John G. [63]
;
Pierpont Mary Ella [64]
;
Piluso Giulio [65]
;
Pinna Valentina [66]
;
Pivnick Eniko K. [67]
;
Pond Dinel A. [68]
;
Powell Cynthia M. ;
Rogers Caleb ;
Ruhrman Shahar Noa ;
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.
作者单位：
Department of Genetics and Department of PediatricsUniversity of North Carolina School of
[1]
Division of Medical GeneticsStanford University School of MedicineStanford,California
[2]
Department of Medical and Molecular GeneticsIndiana University School of MedicineIndianapolis
[3]
Medical Genetics Unit, Bambino Gesù Children's HospitalIRCCSRome,Italy
[4]
Department of Genetics, Hospital Universitario Ramón y CajalInstitute of Health Research (IRYCIS
[5]
Clinical Genetics Unit, Department of Women's and Children's HealthUniversity of PadovaPadova,Italy
[6]
Department of Neurology, New York University School of MedicineLangone Medical CenterNew York,New
[7]
U.O.C Laboratorio di Genetica Medica, Dipartimento di OncoematologiaFondazione Policlinico di Tor
[8]
University of Iowa Stead Family Children's HospitalIowa City,Iowa
[9]
Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical CenterChildren's Hospital of
[10]
Center for Rare DiseasesClinica Las CondesSantiago,Chile
[11]
Division of Clinical Genetics and Metabolism, Arkansas Children's HospitalUniversity of Arkansas
[12]
Cleveland ClinicGenomic Medicine InstituteCleveland,Ohio
[13]
Child Neurology Division, Department of PediatricsSapienza University of RomeRome,Italy
[14]
Department of Medical Genetics, BC Women's HospitalUniversity of British ColumbiaVancouver,British
[15]
Division of Pediatric Genetics, Department of PediatricsUniversity of Florida College of
[16]
Division of Pediatric Hematology–Oncology, Greehey Children's Cancer Research InstituteThe
[17]
Bruce Lefroy Centre for Genetic Health ResearchMurdoch Childrens Research InstituteParkville
[18]
Division of Medical GeneticsMcGill University Health CentreMontréal,Quebec,Canada
[19]
Division of Human GeneticsMedical University of InnsbruckInnsbruck,Austria
[20]
Department of Clinical Cancer GeneticsThe University of Texas MD Anderson Cancer CenterHouston,Texas
[21]
Department of Pathology and Molecular MedicineMcMaster UniversityHamilton,Ontario,Canada
[22]
Department of Pediatrics and Department of OphthalmologyUniversity of Tennessee Health Science
[23]
Section of Pediatrics, Department of Translational Medical SciencesFederico II UniversityNaples
[24]
The Raphael Recanati Genetics InstituteRabin Medical CenterPetah Tikva,Israel
[25]
Neurofibromatosis ProgramChildren's Hospital of PhiladelphiaPhiladelphia,Pennsylvania
[26]
Children's Hospital of WisconsinMilwaukee,Wisconsin
[27]
Adult Genetics UnitRoyal Adelaide HospitalAdelaide,South Australia,Australia
[28]
Department of Precision MedicineUniversità degli Studi della Campania “Luigi Vanvitelli”Naples,Italy
[29]
Department of DermatologyUniversity of Alabama at BirminghamBirmingham,Alabama
[30]
Division of Medical GeneticsAl DuPont Hospital for ChildrenWilmington,Delaware
[31]
Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at
[32]
The South Australian Clinical Genetics Service at the Women's and Children's HospitalNorth Adelaide
[33]
Department of Clinical GeneticsRoyal North Shore HospitalSt Leonards,New South Wales,Australia
[34]
Department of NeurologyBoston Children's HospitalBoston,Massachusetts
[35]
Center for Human GeneticsInstitute of Pathology and Genetics (IPG)Gosselies,Belgium
[36]
Department of PediatricsNorthwestern University Feinberg School of MedicineChicago,Illinois
[37]
Center for Medical GeneticsGhent University HospitalGhent,Belgium
[38]
Department of GeneticsUniversity of Alabama at BirminghamBirmingham,Albama
[39]
Department of Molecular and Medical GeneticsOregon Health and Science UniversityPortland,Oregon
[40]
Greenwood Genetic CenterGreenwood,South Carolina
[41]
Division of Genetics and GenomicsBoston Children's HospitalBoston,Massachusetts
[42]
Children's Healthcare of Atlanta at Scottish RiteAtlanta,Georgia
[43]
Division of Child NeurologyUniversity of North Carolina School of MedicineChapel Hill,North Carolina
[44]
Department of Medical Genetics and MetabolismValley Children's HealthcareMadera,California
[45]
Department of Human GeneticsKU LeuvenLeuven,Belgium
[46]
Department of NeurologyUniversity of Virginia Medical CenterCharlottesville,Virginia
[47]
Division of Human Genetics, Children's Hospital of PhiladelphiaUniversity of Pennsylvania School of
[48]
Department of Pediatrics and OpthalmologyUniversity of MinnesotaMinneapolis,Minnesota
[49]
Department of Molecular and Human GeneticsBaylor College of MedicineHouston,Texas
[50]
Division of Genetics, Department of PediatricsMaine Medical CenterPortland,Maine
[51]
Division of Medical Genetics and MetabolismChildren's Hospital of the King's DaughtersNorfolk
[52]
Division of Molecular Neuro‐OncologyFondazione IRCCS Istituto Neurologico Carlo BestaMilan,Italy
[53]
Department of Clinical GenomicsMayo ClinicRochester,Minnesota
[54]
Genomics Medicine ProgramChildren's Hospital MinnesotaMinneapolis,Minnesota
[55]
Department of Genetics and Metabolic DiseasesHadassah‐Hebrew University Medical CenterJerusalem
[56]
Division of Genetic Medicine, Department of PediatricsUniversity of WashingtonSeattle,Washington
[57]
Developmental Neurology UnitFondazione IRCCS Istituto Neurologico Carlo BestaMilan,Italy
[58]
Carolinas HealthCare SystemLevine Children's Specialty CenterCharlotte,North Carolina
[59]
Department of Neuro‐OncologyThe University of Texas MD Anderson Cancer CenterHouston,Texas
[60]
Center for Medical GeneticsUniversity of Antwerp and Antwerp University HospitalAntwerp,Belgium
[61]
Department of Dermatology and Venereology, Policlinico Umberto ISapienza University of RomeRome
[62]
Molecular Genetics UnitIRCCS Casa Sollievo della SofferenzaSan Giovanni Rotondo,Foggia,Italy
[63]
SOC Genetica MedicaAOU MeyerFlorence,Italy
[64]
Neurofibromatosis Diagnostic and Treatment ProgramSt. Joseph's Children's HospitalPaterson,New
[65]
Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of
[66]
Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnati,Ohio
[67]
Division of Clinical Genetic Services, Department of PediatricsNYU School of MedicineNew York,New
[68]
发布时间
2020-03-30
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Human mutation
Human mutation
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