High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1052-1063

  Rojnueangnit, Kitiwan ^a,b   Xie, Jing ^a   Gomes, Alicia ^a   Sharp, Angela ^a   Callens, Tom ^a   Chen, Yunjia ^a   Liu, Ying ^a   Cochran, Meagan ^a   Abbott, Mary Alice ^c   Atkin, Joan ^d   Babovic Vuksanovic, Dusica ^e   Barnett, Christopher P ^f   Crenshaw, Melissa ^g   Bartholomew, Dennis W ^d   Basel, Lina ^h   Bellus, Gary ⁱ   Ben Shachar, Shay ^j   Bialer, Martin G ^k   Bick, David ^l   Blumberg, Bruce ^m   Cortes, Fanny ⁿ   David, Karen L ^o   Destree, Anne ^p   Duat Rodriguez, Anna ^q   Earl, Dawn ^r   Escobar, Luis ^s   Eswara, Marthanda ^t   Ezquieta, Begona ^u   Frayling, Ian M ^v   Frydman, Moshe ^w   Gardner, Kathy ^x   Gripp, Karen W ^y   Hernández Chico, Concepcion ^z   Heyrman, Kurt ^aa   Ibrahim, Jennifer ^ab   Janssens, Sandra ^ac   Keena, Beth A ^ad   Llano Rivas, Isabel ^ae   Leppig, Kathy ^r   Mcdonald, Marie ^af   Misra, Vinod K ^ag   Mulbury, Jennifer ^ah   Narayanan, Vinodh ^ai   Orenstein, Naama ^aj   Galvin Parton, Patricia ^ak   Pedro, Helio ^al   Pivnick, Eniko K ^am   Powell, Cynthia M ^an   Randolph, Linda ^ao   Raskin, Salmo ^ap   Rosell, Jordi ^aq   Rubin, Karol ^ar   Seashore, Margretta ^as   Schaaf, Christian P ^at   Scheuerle, Angela ^au   Schultz, Meredith ^d   Schorry, Elizabeth ^av   Schnur, Rhonda ^aw   Siqveland, Elizabeth ^ax   Tkachuk, Amanda ⁱ   Tonsgard, James ^ay   Upadhyaya, Meena ^v   Verma, Ishwar C ^az   Wallace, Stephanie ^r   Williams, Charles ^ba   Zackai, Elaine ^ad   Zonana, Jonathan ^bb   Lazaro, Conxi ^bc   Claes, Kathleen ^ac   Korf, Bruce ^a   Martin, Yolanda ^z   Legius, Eric ^bd   Messiaen, Ludwine ^a   more..

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b THAMMASAT UNIVERSITY   (Thailand)

^c TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e Mayo Clinic College of Medicine   (United States)

^f UNIVERSITY OF ADELAIDE   (Australia)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h TEL AVIV UNIVERSITY   (Israel)

ⁱ UNIVERSITY OF COLORADO   (United States)

^j TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^k Northwell Health   (United States)

^l MEDICAL COLLEGE OF WISCONSIN   (United States)

^m KAISER PERMANENTE   (United States)

ⁿ CLÍNICA LAS CONDES   (Chile)

^o NEW YORK METHODIST HOSPITAL   (United States)

^p the Institute of Pathology and Genetic   (Belgium)

^q HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^r UNIVERSITY OF WASHINGTON   (United States)

^s Medical Genetics and Neurodevelopmental Center   (United States)

^t Sutter Medical Center   (United States)

^u HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^v UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^w SHEBA MEDICAL CENTER   (Israel)

^x UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^y NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^z HOSPITAL RAMÓN Y CAJAL   (Spain)

^aa Children's Health Center Pediatrics   (United States)

^ab ST JOSEPH S REGIONAL MEDICAL CENTER   (United States)

^ac GHENT UNIVERSITY HOSPITAL   (Belgium)

^ad UNIVERSITY OF PENNSYLVANIA   (United States)

^ae BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^af DUKE UNIVERSITY MEDICAL CENTER   (United States)

^ag WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ah UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^ai TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^aj SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^ak Stony Brook School of Dental Medicine   (United States)

^al HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^am UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^an UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^ao CHILDREN S HOSPITAL LOS ANGELES   (United States)

^ap PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^aq HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^ar University of Minnesota Children's Hospital   (United States)

^as YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^at BAYLOR COLLEGE OF MEDICINE   (United States)

^au UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^av UNIVERSITY OF CINCINNATI   (United States)

^aw Nationwide Children's Hospital ^*  (United States)

^ax CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^ay UNIVERSITY OF CHICAGO   (United States)

^az Ganga Ram Hospital   (India)

^ba UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^bb OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^bc CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^bd UNIVERSITY OF LEUVEN   (Belgium)

more..

Author keywords

Legius syndrome; Neurofibromatosis type 1; NF1; P.Arg1809; Phenotype genotype correlations

Indexed keywords

ARGININE; CYSTEINE; GLYCINE; LEUCINE; METHIONINE; NEUROFIBROMIN; PROLINE; SERINE; VALINE; CODON;

ALLELE; ARTICLE; CAFE AU LAIT SPOT; CHILD; CLINICAL FEATURE; CODON; DEVELOPMENTAL DISORDER; EXON; EXON SKIPPING; FAMILY; FEMALE; GENE DELETION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOPIGMENTATION; INFANT; LEARNING DISORDER; LENTIGO; LISCH NODULE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MELANOCYTE; MISSENSE MUTATION; NEUROFIBROMA; NOONAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE DISEASE; PULMONIC STENOSIS; SCHOOL CHILD; SHORT STATURE; SKIN NODULE; SOMATIC MUTATION; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHEMISTRY; COHORT ANALYSIS; DWARFISM; GENETIC ASSOCIATION STUDY; GENETICS; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CODON; COHORT STUDIES; DWARFISM; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEUROFIBROMIN 1; NOONAN SYNDROME; PHENOTYPE; YOUNG ADULT;

EID: 84944169905     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22832     Document Type: Article

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