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1. Full Text Cardiac problems in genetic syndromes
by Metcalfe, Kay
Paediatrics and Child Health, ISSN 1751-7222, 12/2018, Volume 28, Issue 12, pp. 574 - 578
Congenital heart disease affects around 0.7% of liveborn infants and is the most frequent cause of death from congenital malformations. This review will... 
marfan syndrome | noonan syndrome | Alagille syndrome | trisomy 21 | Down syndrome | 22q11 deletion | Turner syndrome | Holt-Oram syndrome | Williams syndrome | Loeys-Dietz syndrome | CHARGE syndrome | congenital heart disease | Kabuki syndrome | Genetic disorders | Research | Comorbidity | Heart diseases | Analysis | Patient outcomes
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2. 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 Hasegawa, Satoshi and Okutani, Takahiro and Nagashima, Tatsuo and Nagashima, Takeshi and Funayama, Ryo and Nakayama, Keiko and Inoue, Shin-ichi and Watanabe, Yusuke and Ogura, Toshihiko and Matsubara, Yoichi
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that... 
CLINICAL-MANIFESTATIONS | FACIO-CUTANEOUS SYNDROME | RAS | COSTELLO-SYNDROME | LEOPARD SYNDROMES | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | CFC SYNDROME | SEQUENCING DATA | RAF1 MUTATIONS | 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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3. 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
Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently... 
DELINEATION | BRAF MUTATIONS | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | CARDIOFACIOCUTANEOUS SYNDROME | RHABDOMYOSARCOMA | CFC SYNDROME | KRAS | PATIENT | PROTOONCOGENE | 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 | BRAF | MEK1 | MEK2 | Original | HRAS
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4. Full Text Next-generation sequencing identifies rare variants associated with Noonan syndrome
by Peng-Chieh Chen and Jiani Yin and Hui-Wen Yu and Tao Yuan and Minerva Fernande and Christina K. Yung and Quang M. Trinh and Vanya D. Peltekova and Jeffrey G. Reid and Erica Tworog-Dube and Margaret B. Morgan and Donna M. Muzny and Lincoln Stein and John D. McPherson and Amy E. Roberts and Richard A. Gibbs and Benjamin G. Neel and Raju Kucherlapati
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2014, Volume 111, Issue 31, pp. 11473 - 11478
Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities.... 
Phenotypes | HEK293 cells | Noonan syndrome | Cell lines | Alleles | Medical genetics | Disorders | Genomes | Genetic mutation | Sequencing | Developmental diseases | PTPN11 | RAS | Whole exome sequencing | Human genetics | GENE-MUTATIONS | human genetics | DOMAIN | developmental diseases | ACTIVATED PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | DISORDERS | OF-FUNCTION MUTATIONS | CANCER | whole exome sequencing | SYNDROME-LIKE PHENOTYPE | NEUROFIBROMATOSIS TYPE-1 NF1 | MAP Kinase Kinase 1 - genetics | ras Proteins - genetics | MAP Kinase Signaling System - genetics | Genetic Association Studies | Humans | ras Proteins - metabolism | High-Throughput Nucleotide Sequencing - methods | Mutation - genetics | Noonan Syndrome - genetics | Neurofibromin 1 - genetics | Genetic susceptibility | Genetic research | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Genetic disorders | Mutation | Kinases | Pathogenesis | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
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5. 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
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable... 
MLL2 | KMT2D | KDM6C | Kabuki syndrome | UTY | KDM6A | PHENOTYPE | IDENTIFICATION | LARGE COHORT | DEMETHYLASE UTX | DELETION | FAMILY | DE-NOVO MUTATIONS | GENETICS & HEREDITY | PATIENT | SPECTRUM | 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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6. Full Text Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
by Yaoita, Masako and Niihori, Tetsuya and Mizuno, Seiji and Okamoto, Nobuhiko and Hayashi, Shion and Watanabe, Atsushi and Yokozawa, Masato and Suzumura, Hiroshi and Nakahara, Akihiko and Nakano, Yusuke and Hokosaki, Tatsunori and Ohmori, Ayumi and Sawada, Hirofumi and Migita, Ohsuke and Mima, Aya and Lapunzina, Pablo and Santos-Simarro, Fernando and García-Miñaúr, Sixto and Ogata, Tsutomu and Kawame, Hiroshi and Kurosawa, Kenji and Ohashi, Hirofumi and Inoue, Shin-ichi and Matsubara, Yoichi and Kure, Shigeo and Aoki, Yoko
Human Genetics, ISSN 0340-6717, 2/2016, Volume 135, Issue 2, pp. 209 - 222
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | PTPN11 GENE | PROTEIN | FACIO-CUTANEOUS SYNDROME | SIGNALING PATHWAY | COSTELLO-SYNDROME | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | OF-FUNCTION MUTATIONS | RAF1 MUTATIONS | SOS1 | 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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7. Full Text Germline gain-of-function mutations in SOS1 cause Noonan syndrome
by Li, Li and Neel, Benjamin G and Kucherlapati, Raju S and Tamburino, Alex M and Joshi, Victoria A and Swanson, Kenneth D and Yassin, Yosuf and Araki, Toshiyuki and Montgomery, Kate T and Schiripo, Taryn A and Roberts, Amy E
Nature Genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 70 - 74
Noonan syndrome, the most common single-gene cause of congenital heart disease, is characterized by short stature, characteristic facies, learning problems and... 
SEVENLESS | MUTANTS | DOMAIN | FACIO-CUTANEOUS SYNDROME | PATHWAY | GENETICS & HEREDITY | KRAS | RAS ACTIVATOR SON | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Genetic Testing | Humans | Child, Preschool | Models, Molecular | Infant | Male | Noonan Syndrome - genetics | Protein Tyrosine Phosphatases - genetics | DNA Mutational Analysis | Models, Biological | Adolescent | SOS1 Protein - genetics | Germ-Line Mutation | Adult | Female | SOS1 Protein - chemistry | Child | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Noonan syndrome | Physiological aspects | Causes of | Genetic aspects | G proteins | Research | Health aspects | Heart | Birth defects | Genetic disorders | Mutation | Index Medicus
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8. 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
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 250 - 257
RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes.... 
GROWTH-FACTOR RECEPTOR | GAIN-OF-FUNCTION | C-CBL | COSTELLO-SYNDROME | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | ACQUIRED UNIPARENTAL DISOMY | ACUTE MYELOID-LEUKEMIA | ADAPTER PROTEIN | EGF RECEPTOR | NEUROFIBROMATOSIS TYPE-1 | 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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9. Full Text Germline KRAS mutations cause Noonan syndrome
by Schubbert, S and Zenker, M and Rowe, S.L and Boll, S and Klein, C and Bollag, G and Burgt, I. van der and Musante, L and Kalscheuer, V.M.M and Wehner, L.E and Nguyen, H and West, B and Zhang, K.Y and Sistermans, E.A and Rauch, A and Niemeyer, C.M and Shannon, K and Kratz, C.P
Nature Genetics, ISSN 1061-4036, 2006, Volume 38, Issue 3, pp. 331 - 336
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2,... 
CELLS | COLONY-STIMULATING FACTOR | GENE | RAS | MOUSE MODEL | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | MYELOID-LEUKEMIA | PTPN11 MUTATIONS | PROLIFERATION | HYPERSENSITIVITY | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Humans | Infant | Male | Guanosine Triphosphate - metabolism | Noonan Syndrome - genetics | Protein Tyrosine Phosphatases - genetics | Adolescent | Germ-Line Mutation | Female | Genes, ras | Intracellular Signaling Peptides and Proteins - genetics | Genetic Carrier Screening | Complications and side effects | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Diagnosis | Identification and classification | Risk factors | Oncogenes | Phosphates | Proteins | Birth defects | Mutation | Medical disorders | Index Medicus
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10. Full Text Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
by Yamamoto, Guilherme Lopes and Aguena, Meire and Gos, Monika and Hung, Christina and Pilch, Jacek and Fahiminiya, Somayyeh and Abramowicz, Anna and Cristian, Ingrid and Buscarilli, Michelle and Naslavsky, Michel Satya and Malaquias, Alexsandra C and Zatz, Mayana and Bodamer, Olaf and Majewski, Jacek and Jorge, Alexander A.L and Pereira, Alexandre C and Kim, Chong Ae and Passos-Bueno, Maria Rita and Bertola, Débora Romeo
Journal of Medical Genetics, ISSN 0022-2593, 03/2015, Volume 52, Issue 6, pp. 413 - 421
Background Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway.... 
DIGEORGE-SYNDROME | GENE ANALYSIS | SCHWANNOMATOSIS | COMPLEX | RIT1 | GENETICS & HEREDITY | PHENOTYPE | PTPN11 | MUTATIONS | SEQUENCING DATA | DELETION | Genetic Association Studies | Signal Transduction | Humans | Son of Sevenless Proteins - genetics | ras Proteins - metabolism | Male | Transcription Factors - genetics | Noonan Syndrome - genetics | Genetic Variation | Phenotype | Pedigree | Facies | Female | Noonan Syndrome - diagnosis | Cohort Studies | Mitogen-Activated Protein Kinases - metabolism | Genetic variation | Noonan syndrome | Genes | Causes of | Genetic aspects | Health aspects | Identification and classification | Index Medicus
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11. Full Text Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
by Johnston, Jennifer J and van der Smagt, Jasper J and Rosenfeld, Jill A and Pagnamenta, Alistair T and Alswaid, Abdulrahman and Baker, Eva H and Blair, Edward and Borck, Guntram and Brinkmann, Julia and Craigen, William and Dung, Vu Chi and Emrick, Lisa and Everman, David B and van Gassen, Koen L and Gulsuner, Suleyman and Harr, Margaret H and Jain, Mahim and Kuechler, Alma and Leppig, Kathleen A and McDonald-McGinn, Donna M and Can, Ngoc Thi Bich and Peleg, Amir and Roeder, Elizabeth R and Rogers, R Curtis and Sagi-Dain, Lena and Sapp, Julie C and Schäffer, Alejandro A and Schanze, Denny and Stewart, Helen and Taylor, Jenny C and Verbeek, Nienke E and Walkiewicz, Magdalena A and Zackai, Elaine H and Zweier, Christiane and Zenker, Martin and Lee, Brendan and Biesecker, Leslie G and Members Undiagnosed Dis Network and Members of the Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
Purpose: To characterize the molecular genetics of autosomal recessive Noonan syndrome. Methods: Families underwent phenotyping for features of Noonan syndrome... 
leukemia | multiple congenital anomalies | autosomal recessive inheritance | cardiomyopathy | Noonan syndrome | SCHWANNOMATOSIS | PHENOTYPE | DISORDERS | DELETION | HETEROGENEITY | RARE VARIANTS | RASOPATHIES | PATHWAY | MUTATION | GENETICS & HEREDITY | Genetic Predisposition to Disease | Humans | Child, Preschool | Genotype | Infant | Male | Transcription Factors - genetics | Noonan Syndrome - genetics | Noonan Syndrome - pathology | Exome - genetics | Pedigree | RNA Splicing - genetics | Adolescent | Female | Heterozygote | Mutation | Child | Genetic Linkage | Protein Isoforms - genetics | Siblings | Families & family life | Index Medicus
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12. Full Text Germline gain-of-function mutations in RAF1 cause Noonan syndrome
by Nishizawa, Tsutomu and