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المؤلفون: Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:452-458
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c159b91534fc285f33047e6d51830d4e
https://doi.org/10.1002/ajmg.c.32027 -
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المؤلفون: Maria Ines Kavamura, Giovanni Neri
المصدر: Cassidy and Allanson's Management of Genetic Syndromes. :147-155
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Cardio facio cutaneous, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f7ca73f30abbb25f22d7db8860246d9
https://doi.org/10.1002/9781119432692.ch10 -
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المؤلفون: Maria Ines Kavamura
المصدر: American Journal of Medical Genetics Part A. 161:2707-2709
مصطلحات موضوعية: business.industry, Genetics, Medicine, business, Cardiofaciocutaneous syndrome, medicine.disease, Humanities, Genetics (clinical)
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المؤلفون: Judith Allanson, Klaudiusz Luczak, Hans Gerd Kehl, Gabriele Krüger, Marco Tartaglia, Martin Zenker, Thomas Neumann, Beate Albrecht, Hartmut Peters, Rohan Laurie, Kate Gibson, Vera M. Kalscheuer, Giovanni Neri, Viviana Cordeddu, Luciana Musante, Timm O. Goecke, Andreas Tzschach, Maria Hoeltzenbein, Bronwyn Kerr, Ines Kavamura, Maria M. Sasiadek, Jacqueline A. Noonan
المساهمون: Univ Erlangen Nurnberg, Univ Hosp Munster, Childrens Hosp Eastern Ontario, Universidade Federal de São Paulo (UNIFESP), Royal Manchester Childrens Hosp, Univ Cattolica, Univ Kentucky, Ist Super Sanita, Royal Childrens Hosp, Max Planck Inst Mol Genet, Univ Hosp Rostock, Univ Hosp Dusseldorf, Univ Hosp Essen, Wroclaw Med Univ, Mater Pathol Serv, Univ Hosp Charite
المصدر: Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESPمصطلحات موضوعية: cardio-facio-cutaneous, Adult, Male, inorganic chemicals, endocrine system, Adolescent, Heart Diseases, MAP Kinase Signaling System, Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, Giant Cells, Skin Diseases, LEOPARD Syndrome, Article, cardio-facio-cutaneous syndrome, Cohort Studies, Genetics, medicine, Noonan syndrome, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Mutation, business.industry, multiple giant cell lesions, Noonan-like/multiple giant cell lesion syndrome, Noonan Syndrome, Syndrome, medicine.disease, Osteochondrodysplasia, PTPN11, Phenotype, Giant cell, ras Proteins, Cancer research, SOS1, Female, Nooan syndrome, KRAS, business, Nooan syndrome, cardio-facio-cutaneous, RAS-MAPK signaling cascade
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المؤلفون: Jacqueline A. Noonan, Suma P. Shankar, Pilar L. Magoulas, Mary Ella M Pierpont, Molly Santa Cruz, Maria Ines Kavamura, Brenda A. Conger, Amy E. Roberts, Joseph Sullivan, Kent A. Reinker, Katherine A. Rauen, Saleh Adi, Giovanni Neri, Elizabeth I. Pierpont, Melinda Wolford
المصدر: Pediatrics, vol 134, iss 4
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Pediatrics, Family support, Intellectual and Developmental Disabilities (IDD), Gene mutation, Medical and Health Sciences, Diagnosis, Differential, cardio-facio-cutaneous syndrome, 7.3 Management and decision making, Congenital, Rare Diseases, Costello syndrome, Ectodermal Dysplasia, Clinical Research, Health care, Intellectual disability, Diagnosis, medicine, Humans, Genetic Testing, Disease management (health), Intensive care medicine, Genetic testing, Heart Defects, Pediatric, medicine.diagnostic_test, business.industry, MEK2 mutation, Psychology and Cognitive Sciences, Facies, Disease Management, medicine.disease, Failure to Thrive, Brain Disorders, BRAF mutation, RASopathy, management guidelines, Pediatrics, Perinatology and Child Health, Differential, Practice Guidelines as Topic, Noonan syndrome, Congenital Structural Anomalies, Management of diseases and conditions, business, MEK1 mutation, State-of-the-Art Review Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce089db6300579a8ad722619db69b51
https://escholarship.org/uc/item/47d3z8qz -
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المؤلفون: Maurício Mota de Avelar Alchorne, Clovis de Araujo Peres, Maria Ines Kavamura, Decio Brunoni
المصدر: American Journal of Medical Genetics. 112:12-16
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Adolescent, Diagnostico diferencial, Cardiofaciocutaneous syndrome, Costello syndrome, Pathognomonic, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Infant, Objective method, Syndrome, medicine.disease, Dermatology, Child, Preschool, Face, Skin Abnormalities, Noonan syndrome, Female, Congenital disease, business
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المؤلفون: Francesca Faravelli, Margherita Silengo, Giovanni Battista Ferrero, Ines Kavamura, Orazio Gabrielli, Marco Tartaglia, Serenella Venanzi, Angelo Selicorni, Franco Stanzial, Lorenzo Stella, Michela Bonaguro, Giuseppe Zampino, Laura Mazzanti, Bruce D. Gelb, Maria Cristina Digilio, Maria Lisa Dentici, Giuseppina Baldassarre, Francesca Romana Lepri, Cesare Rossi, Francesca Pantaleoni, Viviana Cordeddu, Maria Felicia Faienza, Viviana Caputo, Bradley Williams, Alessandro De Luca, Alba Pilotta, Bruno Dallapiccola, Bruno Marino, Giovanni Neri, Isabella Torrrente
المساهمون: Laboratorio Mendel, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Dipartimento di Scienze e Tecnologie Chimiche, Università degli Studi di Roma Tor Vergata [Roma], UO Genetica Medica, Policlinico S.Orsola-Malpighi, Pediatria, Università degli studi di Torino (UNITO), Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita', GeneDx [Gaithersburg, MD, USA], Ematologia, Oncologia, Medicina Molecolare, Medical Genetics, Federal University of Sao Paulo, Department of Biomedicine of Developmental Age, Università degli studi di Bari Aldo Moro (UNIBA), Auxoendocrinologia, Ospedale Pediatrico, Servizio aziendale di Consulenza Genetica, Ospedale di Bolzano, Department of Human Genetics, Galliera Hospital, Istituto di Scienze Materno-Infantili, Università Politecnica delle Marche [Ancona] (UNIVPM), Policlinico 'Umberto I', Universita' 'La Sapienza', Universita Cattolica del Sacro Cuore, Università cattolica del Sacro Cuore [Milano] (Unicatt), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Università di Bologna, Policlinico S. Orsola-Malpighi, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Clinica Pediatrica, Pediatrics and Human Genetics, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M., Ist Super Sanita, IRCCS Casa Sollievo Sofferenza, Univ Roma Tor Vergata, St Orsola Marcello Malpighi Hosp, Univ Turin, GeneDx, Universidade Federal de São Paulo (UNIFESP), Univ Bari, Osped Pediat, Osped Bolzano, Ospedali Galliera, Univ Politecn Marche, Univ Roma La Sapienza, Univ Cattolica Sacro Cuore, Univ Milano Bicocca, Univ Bologna, IRCCS, Mt Sinai Sch Med
المصدر: Human Mutation
Human Mutation, Wiley, 2011, 32 (7), pp.760. ⟨10.1002/humu.21492⟩
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESPمصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, genotype-phenotype correlations, Protein Conformation, SOS1 MUTATIONS, mutation analysis, noonan syndrome, ns, sos1, structural analysis, medicine.disease_cause, Heart Septal Defects, Atrial, INDEL Mutation, Missense mutation, Noonan syndrome, SOS1, Child, Genetics (clinical), Settore CHIM/02 - Chimica Fisica, Genetics, 0303 health sciences, Mutation, 030305 genetics & heredity, NOONAN SYNDOME, Life Sciences, Exons, Phenotype, Major gene, Pulmonary Valve Stenosis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Female, SOS1 Protein, Research Article, Adult, Adolescent, Mutation, Missense, Biology, NS, Atrial septal defects, genotype–phenotype correlations, RAS-MAPK PATHWAY, 03 medical and health sciences, medicine, Humans, Genetic Association Studies, 030304 developmental biology, Mitogen-Activated Protein Kinase Kinases, Genetic heterogeneity, medicine.disease, Introns
وصف الملف: ELETTRONICO
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المؤلفون: Maria Ines Kavamura, Giovanni Neri
المصدر: Management of Genetic Syndromes
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Macrocephaly, Cardio facio cutaneous, Multiple congenital anomaly, RASopathy, medicine.disease, Dermatology, Costello syndrome, Medicine, Noonan syndrome, Downslanting palpebral fissures, Hypertelorism, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0a9baf46aa35685e66d445e32adea82
https://doi.org/10.1002/9780470893159.ch11 -
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المؤلفون: Caroline Nava, Giovanni Neri, Louise C. Wilson, Shigeru Tsuchiya, Yoko Narumi, Nobuhiko Okamoto, Hirofumi Ohashi, Hélène Cavé, Kiyoko Sameshima, Etsuro Ito, Alain Verloes, Raoul C.M. Hennekam, Pablo Lapunzina, Yoshio Makita, Yoko Aoki, Kumi Kato, Tetsuya Niihori, Dagmar Wieczorek, Yoichi Matsubara, Gabriele Gillessen-Kaesbach, Ikuko Kondo, Kenji Kurosawa, Maria Ines Kavamura, Shigeo Kure
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics
المصدر: American journal of medical genetics. Part A, 143A(8), 799-807. Wiley-Liss Inc.
مصطلحات موضوعية: Heart Defects, Congenital, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Genotype, DNA Mutational Analysis, MAP Kinase Kinase 2, MAP Kinase Kinase 1, MAP2K2, Cardiofaciocutaneous syndrome, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Diagnosis, Differential, Costello syndrome, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, HRAS, neoplasms, Genetics (clinical), Molecular Epidemiology, sindrome di Costello, genetica clinica, business.industry, sindrome CFC, Syndrome, medicine.disease, Dermatology, Osteochondrodysplasia, digestive system diseases, PTPN11, Phenotype, Endocrinology, Case-Control Studies, Skin Abnormalities, ras Proteins, Noonan syndrome, KRAS, business, Signal Transduction
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المؤلفون: Maria Ines Kavamura, Jacqueline A. Noonan, Amy E. Roberts, John M. Opitz, Terri L. Young, Giovanni Neri, Suzanne K. Jadico, Judith Allanson
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Pathology, Review, Biology, Cardiofaciocutaneous syndrome, medicine.disease_cause, Nervous System Malformations, Diagnosis, Differential, Costello syndrome, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, HRAS, Eye Abnormalities, Hypertelorism, Genetics (clinical), Noonan Syndrome, Facies, Syndrome, medicine.disease, Hematologic Diseases, PTPN11, Palpebral fissure, Endocrinology, Genes, Mutation, Skin Abnormalities, Noonan syndrome, Female, KRAS, medicine.symptom, Digestive System Abnormalities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47655580c30a2eac18129ef7bbf84b9f
https://europepmc.org/articles/PMC2563180/