| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Bruno Dallapiccola | Q28316983 |
| Anna Sarkozy | Q30170061 | ||
| P2093 | author name string | Maria Cristina Digilio | |
| Bruno Marino | |||
| Antonio Pizzuti | |||
| Tania Dottorini | |||
| Emanuela Conti | |||
| Rita Mingarelli | |||
| P2860 | cites work | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome | Q24291893 |
| Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis) | Q24517931 | ||
| Multiple lentigines syndrome. Case report and review of the literature | Q28209915 | ||
| Mapping a gene for Noonan syndrome to the long arm of chromosome 12 | Q28236573 | ||
| Multiple Lentigenes Syndrome | Q28255802 | ||
| Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus | Q28291223 | ||
| Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal | Q29013212 | ||
| Multiple lentigines syndrome | Q29028981 | ||
| Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. | Q35194587 | ||
| Pulmonary stenosis, cafe-au-lait spots, and dull intelligence | Q36061485 | ||
| Noonan syndrome: a review | Q39826480 | ||
| Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. | Q52011013 | ||
| Centrofacial lentiginosis. A survey of 40 cases | Q52113393 | ||
| Noonan syndrome | Q68929823 | ||
| Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity | Q69563386 | ||
| Unifying link between Noonan's and Leopard syndromes? | Q71807402 | ||
| Brief report: a familial syndrome of arterial dissections with lentiginosis | Q72478907 | ||
| Noonan syndrome revisited | Q73243736 | ||
| Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family | Q77439622 | ||
| A pedigree of generalized lentigo | Q80701869 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | inner ear development | Q14859973 |
| Protein tyrosine phosphatase non-receptor type 11 | Q7120997 | ||
| P304 | page(s) | 389-94 | |
| P577 | publication date | 2002-08-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene | |
| P478 | volume | 71 |
| Q81668445 | A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3. |
| Q24655745 | A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition |
| Q45095117 | A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. |
| Q54511051 | A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. |
| Q101051254 | An allosteric interaction controls the activation mechanism of SHP2 tyrosine phosphatase |
| Q36702801 | An unexpected new role of mutant Ras: perturbation of human embryonic development |
| Q36543055 | Atrioventricular canal defect in patients with RASopathies |
| Q88187355 | Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies |
| Q38042792 | Cardiomyocytes derived from human induced pluripotent stem cells as models for normal and diseased cardiac electrophysiology and contractility |
| Q36057294 | Cardiomyopathies in Noonan syndrome and the other RASopathies |
| Q34299836 | Clinical and Molecular Findings of Tunisian Patients with RASopathies |
| Q44259099 | Clinical and molecular analysis of RASopathies in a group of Turkish patients |
| Q35626464 | Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype |
| Q36181703 | Clinical phenotypes and molecular genetic mechanisms of Carney complex |
| Q35079992 | Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. |
| Q36658489 | Contextualizing the Genes Altered in Bladder Neoplasms in Pediatric andTeen Patients Allows Identifying Two Main Classes of Biological ProcessesInvolved and New Potential Therapeutic Targets |
| Q57552088 | Costello syndrome: clinical diagnosis in the first year of life |
| Q55517431 | Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. |
| Q64042709 | Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes |
| Q92307843 | Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway |
| Q37004691 | De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features |
| Q41774745 | De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features |
| Q37287463 | Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice |
| Q33778184 | Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome |
| Q34611774 | Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations |
| Q35947344 | Diagnosis in dysmorphology: clues from the skin |
| Q37558643 | Diagnosis of Noonan syndrome and related disorders using target next generation sequencing |
| Q55671000 | Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) |
| Q34440570 | Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms |
| Q37705054 | Distinct and overlapping functions of ptpn11 genes in Zebrafish development |
| Q33979110 | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes |
| Q24540529 | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease |
| Q52013875 | Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? |
| Q38032488 | Dual faces of SH2-containing protein-tyrosine phosphatase Shp2/PTPN11 in tumorigenesis |
| Q36000046 | Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines. |
| Q44444609 | Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes |
| Q60147701 | Expanded endonasal endoscopic approach for resection of a large skull base aneurysmal bone cyst in a pediatric patient with extensive cranial fibrous dysplasia |
| Q28396082 | Expansion of the RASopathies |
| Q52537178 | Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). |
| Q44781306 | Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations |
| Q46578462 | Feedback regulation of RTK signaling in development. |
| Q38493240 | From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development |
| Q27865193 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy |
| Q52000174 | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. |
| Q24296397 | Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome |
| Q52646137 | Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner. |
| Q22337413 | Genetic disorders associated with macrocephaly |
| Q45250214 | Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. |
| Q38997133 | Genetics of Congenital Heart Disease: Past and Present |
| Q41451951 | Genetics of congenital heart disease |
| Q26828019 | Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility |
| Q33637874 | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum |
| Q34664172 | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype |
| Q24293473 | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype |
| Q60923377 | Growth hormone therapy in patients with Noonan syndrome |
| Q36648071 | Hematopoietic colony formation from human growth factor-dependent TF1 cells and human cord blood myeloid progenitor cells depends on SHP2 phosphatase function |
| Q93140938 | Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies |
| Q98735791 | Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis |
| Q54592678 | Is Raf1 a nexus for cardiac hypertrophic signaling in human disease? |
| Q79372098 | Is sudden cardiac death predictable in LEOPARD syndrome? |
| Q40020065 | Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors |
| Q42180234 | LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. |
| Q42089211 | LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. |
| Q41880278 | LEOPARD Syndrome: Clinical Features and Gene Mutations |
| Q37600774 | LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature |
| Q39497765 | LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling |
| Q56828381 | Lentigos, Melanocytic Naevi and Melanoma |
| Q21202917 | Leopard syndrome |
| Q54228579 | Leopard syndrome: a report of five cases from one family in two generations. |
| Q35039329 | MAPK activation in mature cataract associated with Noonan syndrome |
| Q35879519 | Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome |
| Q56828365 | Melanocytic Naevi and Melanoma |
| Q26765017 | Modeling congenital disease and inborn errors of development in Drosophila melanogaster |
| Q27684353 | Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations |
| Q24294180 | Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation |
| Q51911662 | Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. |
| Q44666912 | Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome |
| Q37418909 | Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review). |
| Q34326050 | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome |
| Q57577930 | Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome |
| Q45995897 | Mutational and Functional Analysis in Human Ras/MAP Kinase Genetic Syndromes |
| Q34137459 | NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome |
| Q39419046 | New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling |
| Q39652941 | New insights in genetics of congenital heart defects. |
| Q42512496 | Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome |
| Q73758543 | No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome |
| Q37793648 | Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines |
| Q27001641 | Noonan syndrome |
| Q34678373 | Noonan syndrome and clinically related disorders |
| Q33806161 | Noonan syndrome: clinical aspects and molecular pathogenesis |
| Q37343475 | Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway |
| Q28288812 | PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects |
| Q45937493 | PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? |
| Q58193600 | PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype” |
| Q44279418 | PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. |
| Q43253243 | PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan |
| Q36025665 | PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? |
| Q30278754 | Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines |
| Q33910077 | Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome |
| Q45957290 | Pathogenetics of the RASopathies. |
| Q38711139 | Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms |
| Q37102143 | Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development |
| Q38016481 | Piebaldism |
| Q44607754 | Polymorphisms of PTPN11 coding SHP-2 as biomarkers for ulcerative colitis susceptibility in the Japanese population |
| Q35101627 | Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis |
| Q29614826 | Protein tyrosine phosphatases: from genes, to function, to disease |
| Q42157466 | RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. |
| Q39068707 | RASopathies: Clinical Diagnosis in the First Year of Life |
| Q34627120 | Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. |
| Q38068387 | Ras/MAPK syndromes and childhood hemato-oncological diseases |
| Q38601758 | Recent advances in RASopathies |
| Q24321087 | Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1 |
| Q91825640 | Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases |
| Q48103763 | Regulatory Mechanisms and Novel Therapeutic Targeting Strategies for Protein Tyrosine Phosphatases. |
| Q34444807 | Role of genomics in cardiovascular medicine |
| Q35741910 | SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton |
| Q37186707 | SHP-2 tyrosine phosphatase in human diseases. |
| Q37687479 | SHP2 phosphatase as a novel therapeutic target for melanoma treatment |
| Q40038376 | SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients |
| Q24625404 | SPRED 1 mutations in a neurofibromatosis clinic |
| Q35755732 | Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome |
| Q90848336 | Shp2 in myocytes is essential for cardiovascular and neointima development |
| Q27010607 | Small G proteins in the cardiovascular system: physiological and pathological aspects |
| Q34161616 | Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations |
| Q42816100 | Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. |
| Q27676674 | Structural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 Mutations |
| Q33556868 | Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11) |
| Q29147386 | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome |
| Q43121564 | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
| Q42801306 | Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis |
| Q95841086 | The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila |
| Q34800539 | The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration |
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