SOS1 mutations in Noonan syndrome: Molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Human Mutation

Volumn 32, Issue 7, 2011, Pages 760-772

  Lepri, Francesca ^a,q   De Luca, Alessandro ^a   Stella, Lorenzo ^b   Rossi, Cesare ^c   Baldassarre, Giuseppina ^d   Pantaleoni, Francesca ^e   Cordeddu, Viviana ^e   Williams, Bradley J ^f   Dentici, Maria L ^a,q   Caputo, Viviana ^e   Venanzi, Serenella ^e   Bonaguro, Michela ^c   Kavamura, Ines ^g   Faienza, Maria F ^h   Pilotta, Alba ⁱ   Stanzial, Franco ^j   Faravelli, Francesca ^k   Gabrielli, Orazio ^l   Marino, Bruno ^m   Neri, Giovanni ⁿ   Silengo, Margherita Cirillo ^d   Ferrero, Giovanni B ^d   Torrrente, Isabella ^a   Selicorni, Angelo ^o   Mazzanti, Laura ^p   Digilio, Maria C ^q   Zampino, Giuseppe ⁿ   Dallapiccola, Bruno ^q   Gelb, Bruce D ^r   Tartaglia, Marco ^e   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^f GENEDX   (United States)

^g FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^h UNIVERSITY OF BARI   (Italy)

ⁱ Ospedale Pediatrico   (Italy)

^j Ospedale di Bolzano   (Italy)

^k GALLIERA HOSPITAL   (Italy)

^l UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^m SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁿ CATHOLIC UNIVERSITY   (Italy)

^o UNIVERSITY OF MILANO BICOCCA   (Italy)

^p UNIVERSITY OF BOLOGNA   (Italy)

^q BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^r MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Genotype phenotype correlations; Mutation analysis; Noonan syndrome; NS; SOS1; Structural analysis

Indexed keywords

GENOMIC DNA; SOS PROTEIN;

ARTICLE; CELL MEMBRANE; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GROWTH DISORDER; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; ADULT; CHILD; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HEART SEPTAL DEFECTS, ATRIAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INDEL MUTATION; INTRONS; MALE; MITOGEN-ACTIVATED PROTEIN KINASE KINASES; MUTATION; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN CONFORMATION; PULMONARY VALVE STENOSIS; SOS1 PROTEIN;

EID: 79959745810     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21492     Document Type: Article

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