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1. Full Text Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
by Cecchetti, Serena and Ma'ayan, Avi and Di Schiavi, Elia and Selicorni, Angelo and Martinelli, Simone and Dallapiccola, Bruno and Cardinale, Alessio and Ferrero, Giovanni B and Zampino, Giuseppe and Digilio, Maria C and Mazzanti, Laura and Lipzen, Anna and Sarkozy, Anna and Schackwitz, Wendy and Kutsche, Kerstin and Merlo, Daniela and Anichini, Cecilia and Lepri, Francesca and Pennacchio, Len A and Tenconi, Romano and Bazzicalupo, Paolo and Tartaglia, Marco and Cordeddu, Viviana and Bartholdi, Deborah and Iyengar, Ravi and Martin, Joel and Flex, Elisabetta and Fodale, Valentina and Zenker, Martin and Rossi, Cesare and Gelb, Bruce D and Joint Genome Institute (JGI)
Nature genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Humans | Actins - metabolism | Fluorescent Dyes - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Indoles - metabolism | Myristic Acid - metabolism | Cell Nucleus - metabolism | Noonan Syndrome - metabolism | Cytoskeleton - metabolism | Germ-Line Mutation | Mutation | Hair - growth & development | Intracellular Signaling Peptides and Proteins - genetics | Fluorescent Antibody Technique, Indirect | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | DNA binding proteins | Health aspects | Risk factors | Proteins | Signal transduction | Genotype & phenotype | Statistical analysis | Growth hormones | Statistical methods | Graph theory | Genetic testing | Index Medicus
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2. Full Text Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
by Sarkozy, Anna and López Siguero, Juan P and Tartaglia, Marco and Ackerman, Michael J and Rossi, Cesare and Digilio, Maria C and Mundel, Peter and Torrente, Isabella and Tenconi, Romano and Mazzanti, Laura and Selicorni, Angelo and Landstrom, Andrew and Marino, Bruno and Bos, J Martijn and Pogna, Edgar A and Oishi, Kimihiko and Gelb, Bruce D and Martinelli, Simone and Schackwitz, Wendy and Pennacchio, Len A and Carta, Claudio and Pandit, Bhaswati and Ustaszewska, Anna and Zampino, Giuseppe and Ommen, Steve R and Dallapiccola, Bruno and Esposito, Giorgia and Lepri, Francesca and Faul, Christian
Nature genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Protein Structure, Tertiary | Cardiomyopathy, Hypertrophic - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Proto-Oncogene Proteins c-raf - genetics | Signal Transduction | Cardiomyopathy, Hypertrophic - metabolism | Humans | LEOPARD Syndrome - metabolism | LEOPARD Syndrome - genetics | Cercopithecus aethiops | ras Proteins - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Proto-Oncogene Proteins c-raf - metabolism | Protein Tyrosine Phosphatases - genetics | Animals | Transfection | Proto-Oncogene Proteins c-raf - chemistry | Noonan Syndrome - metabolism | COS Cells | Intracellular Signaling Peptides and Proteins - genetics | Complications and side effects | Cardiomyopathy, Hypertrophic | Gene mutations | Noonan syndrome | Genetic aspects | Diagnosis | Risk factors | Signal transduction | Genetics | Cardiovascular disease | Mutation | Developmental disabilities | Binding sites | Index Medicus
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3. Full Text Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
by Gibson, Kate and Martin, Joel and Pandit, Bhaswati and Yadav, Kamlesh K and Neri, Cinzia and Digilio, Maria Cristina and Fodale, Valentina and Martinelli, Simone and Tartaglia, Marco and Curry, Cynthia J and Pennacchio, Len A and Siguero, Juan Pedro López and Dallapiccola, Bruno and Gelb, Bruce D and Bar-Sagi, Dafna and Carta, Claudio and Zhao, Chen and Lepri, Francesca and Oishi, Kimihiko and Vasta, Isabella and Zampino, Giuseppe and Bristow, James and Sarkozy, Anna and Ustaszewska, Anna and Schackwitz, Wendy
Nature genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 75 - 79
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Animals | Genetic Testing | Transfection | Humans | SOS1 Protein - genetics | Cercopithecus aethiops | Models, Molecular | Mutation | DNA Mutational Analysis - methods | Noonan Syndrome - genetics | SOS1 Protein - chemistry | COS Cells | Complications and side effects | Diagnosis | Research | Gene mutations | Noonan syndrome | Risk factors | Heart | Genotype & phenotype | Birth defects | Genetic disorders | Index Medicus
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4. Full Text Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy
by Srinivasan, Ramesh and Rawlings, David and Wood, Claire L and Cheetham, Tim and Moreno, Aura Cecilia Jimenez and Mayhew, Anna and Eagle, Michelle and Guglieri, Michela and Straub, Volker and Owen, Catherine and Bushby, Kate and Sarkozy, Anna
Muscle & nerve, ISSN 0148-639X, 07/2016, Volume 54, Issue 1, pp. 79 - 85
prophylactic therapy | glucocorticoid | Duchenne muscular dystrophy | bisphosphonate | bone | osteoporosis | risedronate | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Bone Density | Administration, Oral | Humans | Risedronate Sodium - administration & dosage | Adolescent | Female | Male | Bone Density Conservation Agents - administration & dosage | Muscular Dystrophy, Duchenne - prevention & control | Child | Cohort Studies | Osteoporosis | Corticosteroids | Bones | Density | Medicine, Preventive | Preventive health services | Index Medicus
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5. Full Text Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction
by Jungbluth, Heinz and Treves, Susan and Zorzato, Francesco and Sarkozy, Anna and Ochala, Julien and Sewry, Caroline and Phadke, Rahul and Gautel, Mathias and Muntoni, Francesco
Nature reviews. Neurology, ISSN 1759-4758, 03/2018, Volume 14, Issue 3, pp. 151 - 167
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Excitation Contraction Coupling - physiology | Myopathies, Structural, Congenital - physiopathology | Humans | Muscle Contraction - physiology | Myopathies, Structural, Congenital - therapy | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - genetics | Care and treatment | Muscle diseases | Genetic aspects | Research | Gene mutations | Congenital diseases | Mutation | Index Medicus
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6. Full Text Leopard syndrome
by Sarkozy, Anna and Digilio, Maria Cristina and Dallapiccola, Bruno
Orphanet journal of rare diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 13 - 13
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Face - abnormalities | Humans | LEOPARD Syndrome - genetics | Child, Preschool | LEOPARD Syndrome - epidemiology | LEOPARD Syndrome - diagnosis | Adult | Female | LEOPARD Syndrome - therapy | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Skin - pathology | Cardiomyopathy, Hypertrophic - pathology | Care and treatment | Genetic disorders | Diagnosis | Risk factors | Index Medicus
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7. Full Text Genotype–phenotype correlations in recessive titinopathies
by Savarese, Marco and Vihola, Anna and Oates, Emily C and Barresi, Rita and Fiorillo, Chiara and Tasca, Giorgio and Jokela, Manu and Sarkozy, Anna and Luo, Sushan and Díaz-Manera, Jordi and Ehrstedt, Christoffer and Rojas-García, Ricardo and Sáenz, Amets and Muelas, Nuria and Lonardo, Fortunato and Fodstad, Heidi and Qureshi, Talha and Johari, Mridul and Välipakka, Salla and Luque, Helena and Petiot, Philippe and de Munain, Adolfo López and Pane, Marika and Mercuri, Eugenio and Torella, Annalaura and Nigro, Vincenzo and Astrea, Guja and Santorelli, Filippo Maria and Bruno, Claudio and Kuntzer, Thierry and Illa, Isabel and Vílchez, Juan J and Julien, Cedric and Ferreiro, Ana and Malandrini, Alessandro and Zhao, Chong-Bo and Casar-Borota, Olivera and Davis, Mark and Muntoni, Francesco and Hackman, Peter and Udd, Bjarne
Genetics in medicine, ISSN 1098-3600, 12/2020, Volume 22, Issue 12, pp. 2029 - 2040
arthrogryposis | titin | cardiomyopathy | skeletal muscle disorders | congenital myopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genotype & phenotype | Index Medicus
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8. Full Text The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
by Thangarajh, Mathula and Elfring, Gary L and Trifillis, Panayiota and McIntosh, Joseph and Peltz, Stuart W and Ataluren Phase 2b Study Grp and Ataluren Phase 2b Study Group and on behalf of the Ataluren Phase 2b Study Group
Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 13, pp. e1215 - e1219
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuropsychological Tests | Young Adult | Cross-Sectional Studies | Humans | Adolescent | Child, Preschool | Male | Codon, Nonsense | Muscular Dystrophy, Duchenne - genetics | Memory, Short-Term | Muscular Dystrophy, Duchenne - psychology | Child | 91 | 146 | 185 | 227 | 54 | Medicin och hälsovetenskap
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