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1. Full Text Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk
by Villani, Anita and Greer, Mary-Louise C and Kalish, Jennifer M and Nakagawara, Akira and Nathanson, Katherine L and Pajtler, Kristian W and Pfister, Stefan M and Walsh, Michael F and Wasserman, Jonathan D and Zelley, Kristin and Kratz, Christian P
Clinical cancer research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
Life Sciences & Biomedicine | Oncology | Science & Technology | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer | Index Medicus
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2. Full Text Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
by Bögershausen, Nina and Gatinois, Vincent and Riehmer, Vera and Kayserili, Hülya and Becker, Jutta and Thoenes, Michaela and Simsek‐Kiper, Pelin Özlem and Barat‐Houari, Mouna and Elcioglu, Nursel H and Wieczorek, Dagmar and Tinschert, Sigrid and Sarrabay, Guillaume and Strom, Tim M and Fabre, Aurélie and Baynam, Gareth and Sanchez, Elodie and Nürnberg, Gudrun and Altunoglu, Umut and Capri, Yline and Isidor, Bertrand and Lacombe, Didier and Corsini, Carole and Cormier‐Daire, Valérie and Sanlaville, Damien and Giuliano, Fabienne and Le Quan Sang, Kim‐Hanh and Kayirangwa, Honorine and Nürnberg, Peter and Meitinger, Thomas and Boduroglu, Koray and Zoll, Barbara and Lyonnet, Stanislas and Tzschach, Andreas and Verloes, Alain and Di Donato, Nataliya and Touitou, Isabelle and Netzer, Christian and Li, Yun and Geneviève, David and Yigit, Gökhan and Wollnik, Bernd
Human mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
MLL2 | KMT2D | KDM6C | Kabuki syndrome | UTY | KDM6A | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Hematologic Diseases - pathology | Genetic Predisposition to Disease | Face - abnormalities | Face - pathology | Humans | Male | DNA-Binding Proteins - genetics | Noonan Syndrome - genetics | Histone Demethylases - genetics | Sequence Analysis, DNA | Vestibular Diseases - pathology | Genes, X-Linked | Hematologic Diseases - genetics | Female | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Maternal Inheritance | Genotype & phenotype | Genetic disorders | Index Medicus | Life Sciences
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3. Full Text Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
by Aoki, Yoko and Niihori, Tetsuya and Banjo, Toshihiro and Okamoto, Nobuhiko and Mizuno, Seiji and Kurosawa, Kenji and Ogata, Tsutomu and Takada, Fumio and Yano, Michihiro and Ando, Toru and Hoshika, Tadataka and Barnett, Christopher and Ohashi, Hirofumi and Kawame, Hiroshi and Hasegawa, Tomonobu and Okutani, Takahiro and Nagashima, Tatsuo and Hasegawa, Satoshi and Funayama, Ryo and Nagashima, Takeshi and Nakayama, Keiko and Inoue, Shin-ichi and Watanabe, Yusuke and Ogura, Toshihiko and Matsubara, Yoichi
American journal of human genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | NIH 3T3 Cells | ras Proteins - genetics | Humans | Transcriptional Activation | Embryo, Nonmammalian - metabolism | Child, Preschool | ras Proteins - metabolism | Infant | Male | ets-Domain Protein Elk-1 - genetics | Mutation, Missense | RNA, Messenger - metabolism | Zebrafish - embryology | Incidence | MAP Kinase Signaling System | Noonan Syndrome - pathology | Muscle Spindles - pathology | ets-Domain Protein Elk-1 - metabolism | Germ-Line Mutation | Female | Cardiomyopathy, Hypertrophic - genetics | Embryo, Nonmammalian - pathology | RNA, Messenger - genetics | Mutation Rate | Noonan Syndrome - genetics | Animals | Noonan Syndrome - metabolism | Zebrafish - metabolism | Mice | Noonan Syndrome - epidemiology | Genetic Carrier Screening | Cardiomyopathy, Hypertrophic - pathology | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | Guanosine triphosphatase | Health aspects | Zebrafish | Mutation | Kinases | Embryos | Genes | Cells | Index Medicus | Report
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4. Full Text Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
by Nava, Caroline and Hanna, Nadine and Michot, Caroline and Pereira, Sabrina and Pouvreau, Nathalie and Niihori, Tetsuya and Aoki, Yoko and Matsubara, Yoichi and Arveiler, Benoit and Lacombe, Didier and Pasmant, Eric and Parfait, Béatrice and Baumann, Clarisse and Héron, Delphine and Sigaudy, Sabine and Toutain, Annick and Rio, Marlène and Goldenberg, Alice and Leheup, Bruno and Verloes, Alain and Cavé, Hélène
Journal of medical genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - pathology | Face - abnormalities | Humans | Child, Preschool | Infant | Male | Mutation, Missense | Skin Abnormalities - diagnosis | Intellectual Disability - genetics | MAP Kinase Kinase 1 - genetics | Noonan Syndrome - pathology | Heart Defects, Congenital - genetics | MAP Kinase Signaling System - genetics | DNA Mutational Analysis | Female | Skin Abnormalities - pathology | Child | MAP Kinase Kinase 2 - genetics | Abnormalities, Multiple - genetics | Noonan Syndrome - diagnosis | Diagnosis, Differential | Heart Defects, Congenital - pathology | Genotype | Signal Transduction - genetics | Noonan Syndrome - genetics | Syndrome | Phenotype | Proto-Oncogene Proteins B-raf - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Heart Defects, Congenital - diagnosis | Skin Abnormalities - genetics | Genes, ras | Cohort Studies | Gene mutations | Analysis | Child development deviations | Research | Developmental disabilities | Index Medicus | CFC syndrome | Noonan syndrome | Costello syndrome | KRAS | BRAF | MEK1 | MEK2 | Original | HRAS
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5. Full Text Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
by Yaoita, Masako and Yaoita, Masako and Niihori, Tetsuya and Niihori, Tetsuya and Mizuno, Seiji and Mizuno, Seiji and Okamoto, Nobuhiko and Okamoto, Nobuhiko and Hayashi, Shion and Hayashi, Shion and Watanabe, Atsushi and Watanabe, Atsushi and Yokozawa, Masato and Yokozawa, Masato and Suzumura, Hiroshi and Suzumura, Hiroshi and Nakahara, Akihiko and Nakahara, Akihiko and Nakano, Yusuke and Nakano, Yusuke and Hokosaki, Tatsunori and Hokosaki, Tatsunori and Ohmori, Ayumi and Ohmori, Ayumi and Sawada, Hirofumi and Sawada, Hirofumi and Migita, Ohsuke and Migita, Ohsuke and Mima, Aya and Mima, Aya and Lapunzina, Pablo and Lapunzina, Pablo and Santos-Simarro, Fernando and Santos-Simarro, Fernando and García-Miñaúr, Sixto and García-Miñaúr, Sixto and Ogata, Tsutomu and Ogata, Tsutomu and Kawame, Hiroshi and Kawame, Hiroshi and Kurosawa, Kenji and Kurosawa, Kenji and Ohashi, Hirofumi and Ohashi, Hirofumi and Inoue, Shin-ichi and Inoue, Shin-ichi and Matsubara, Yoichi and Matsubara, Yoichi and Kure, Shigeo and Kure, Shigeo and Aoki, Yoko and Aoki, Yoko
Human genetics, ISSN 0340-6717, 2/2016, Volume 135, Issue 2, pp. 209 - 222
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - metabolism | ras Proteins - genetics | Exons | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Gene Expression Regulation | SOS1 Protein - metabolism | Child, Preschool | Genetic Association Studies - methods | ras Proteins - metabolism | Infant | Male | Noonan Syndrome - genetics | Chylothorax - genetics | Pleural Effusion - genetics | Heart Defects, Congenital - genetics | Hydrops Fetalis - genetics | Nuchal Translucency Measurement | SOS1 Protein - genetics | Female | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Infant, Newborn | Proto-Oncogene Proteins p21(ras) - metabolism | Genetic research | Genetic aspects | Congenital heart disease | Genetic disorders | Analysis | Noonan syndrome | Index Medicus
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6. Full Text Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
by Martinelli, Simone and De Luca, Alessandro and Stellacci, Emilia and Rossi, Cesare and Checquolo, Saula and Lepri, Francesca and Caputo, Viviana and Silvano, Marianna and Buscherini, Francesco and Consoli, Federica and Ferrara, Grazia and Digilio, Maria C and Cavaliere, Maria L and van Hagen, Johanna M and Zampino, Giuseppe and van der Burgt, Ineke and Ferrero, Giovanni B and Mazzanti, Laura and Screpanti, Isabella and Yntema, Helger G and Nillesen, Willy M and Savarirayan, Ravi and Zenker, Martin and Dallapiccola, Bruno and Gelb, Bruce D and Tartaglia, Marco
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 250 - 257
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Proto-Oncogene Proteins c-cbl - genetics | Humans | Mutant Proteins - genetics | Molecular Sequence Data | Male | Germ-Line Mutation - genetics | Noonan Syndrome - genetics | Phenotype | DNA Mutational Analysis | Base Sequence | Tumor Suppressor Proteins - genetics | Amino Acid Substitution - genetics | Female | Heterozygote | Tumor suppressor genes | Research | Gene mutations | Gene expression | Analysis | Noonan syndrome | Genotype & phenotype | Genetics | Genetic disorders | Mutation | Genes | Tumors | Index Medicus | Report
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7. Full Text The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
by Tidyman, William E and Rauen, Katherine A
Current opinion in genetics & development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Medical Education | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | ras Proteins - genetics | Humans | Noonan Syndrome - physiopathology | SOS1 Protein - metabolism | ras Proteins - metabolism | Signal Transduction - genetics | Noonan Syndrome - genetics | Syndrome | Noonan Syndrome - pathology | Animals | Models, Biological | SOS1 Protein - genetics | Germ-Line Mutation | Mitogen-Activated Protein Kinases - genetics | Signal Transduction - physiology | Mitogen-Activated Protein Kinases - metabolism | Gene mutations | Mitogens | Protein kinases | Index Medicus | MAP2K2 (MEK2) | Ras | capillary malformation-arteriovenous malformation syndrome | CRAF | NRAS | SPRED1 | gingival fibromatosis 1 syndrome | neurofibromin | cardio-facio-cutaneous syndrome | Noonan syndrome | HRAS | neurofibromatosis 1 | signal transduction pathway | MAP2K1 (MEK1) | BRAF | PTPN11 | MAPK | Legius syndrome | RASA1 | Costello syndrome | KRAS | autoimmune lymphoproliferative disorder | RAF1 | SOS1 | LEOPARD syndrome
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8. Full Text Noonan syndrome
by Roberts, Amy E, Dr and Allanson, Judith E, Prof and Tartaglia, Marco, PhD and Gelb, Bruce D, Prof
The Lancet (British edition), ISSN 0140-6736, 2013, Volume 381, Issue 9863, pp. 333 - 342
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences |