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Publication DateLancet, The, ISSN 0140-6736, 2013, Volume 381, Issue 9863, pp. 333 - 342
Summary Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short...
Internal Medicine | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | MEDICINE, GENERAL & INTERNAL | FACIO-CUTANEOUS SYNDROME | COSTELLO-SYNDROME | JUVENILE MYELOMONOCYTIC LEUKEMIA | TERM-FOLLOW-UP | GERMLINE KRAS MUTATIONS | OF-THE-LITERATURE | PROTEIN-TYROSINE-PHOSPHATASE | CELL LESION SYNDROME | Diagnosis, Differential | Prognosis | Noonan Syndrome - genetics | Humans | Noonan Syndrome - therapy | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Genetic aspects | Diagnosis | Noonan syndrome | Hair | Hematology | Medical treatment | Ear diseases | FDA approval | Hearing impairment | Blood | Defects | Proteins | Signal transduction | Child development | Growth hormones | Mutation | Age
Internal Medicine | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | MEDICINE, GENERAL & INTERNAL | FACIO-CUTANEOUS SYNDROME | COSTELLO-SYNDROME | JUVENILE MYELOMONOCYTIC LEUKEMIA | TERM-FOLLOW-UP | GERMLINE KRAS MUTATIONS | OF-THE-LITERATURE | PROTEIN-TYROSINE-PHOSPHATASE | CELL LESION SYNDROME | Diagnosis, Differential | Prognosis | Noonan Syndrome - genetics | Humans | Noonan Syndrome - therapy | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Genetic aspects | Diagnosis | Noonan syndrome | Hair | Hematology | Medical treatment | Ear diseases | FDA approval | Hearing impairment | Blood | Defects | Proteins | Signal transduction | Child development | Growth hormones | Mutation | Age
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Loading RightsJournal 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 | CFC syndrome | Noonan syndrome | Costello syndrome | BRAF | MEK1 | MEK2 | Original | HRAS
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 | CFC syndrome | Noonan syndrome | Costello syndrome | BRAF | MEK1 | MEK2 | Original | HRAS
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Loading RightsCurrent Opinion in Genetics & Development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of...
Medical Education | LEOPARD-SYNDROME | TYROSINE-PHOSPHATASE SHP-2 | FACIO-CUTANEOUS SYNDROME | COSTELLO-SYNDROME | MAP KINASE | GENETICS & HEREDITY | CAUSE NOONAN-SYNDROME | GERMLINE MUTATIONS | PTPN11 MUTATIONS | OF-FUNCTION MUTATIONS | HEREDITARY GINGIVAL FIBROMATOSIS | 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 | 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
Medical Education | LEOPARD-SYNDROME | TYROSINE-PHOSPHATASE SHP-2 | FACIO-CUTANEOUS SYNDROME | COSTELLO-SYNDROME | MAP KINASE | GENETICS & HEREDITY | CAUSE NOONAN-SYNDROME | GERMLINE MUTATIONS | PTPN11 MUTATIONS | OF-FUNCTION MUTATIONS | HEREDITARY GINGIVAL FIBROMATOSIS | 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 | 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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Loading RightsClinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the...
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | 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
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | 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
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Loading RightsOrphanet Journal of Rare Diseases, ISSN 1750-1172, 2007, Volume 2, Issue 1, pp. 4 - 4
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be...
MEDICINE, RESEARCH & EXPERIMENTAL | GROWTH-HORMONE TREATMENT | DIAGNOSIS | PHENOTYPE | PTPN11 | OCULAR MANIFESTATIONS | MUTATIONS | CHILDREN | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Prognosis | Humans | Noonan Syndrome - therapy | Noonan Syndrome - physiopathology | Child, Preschool | Genetic Counseling - methods | Infant | Mutation, Missense | Noonan Syndrome - genetics | Pregnancy | Protein Tyrosine Phosphatases - genetics | Adolescent | Adult | Female | Child Development | Prenatal Diagnosis - methods | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Noonan syndrome | Distribution
MEDICINE, RESEARCH & EXPERIMENTAL | GROWTH-HORMONE TREATMENT | DIAGNOSIS | PHENOTYPE | PTPN11 | OCULAR MANIFESTATIONS | MUTATIONS | CHILDREN | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Prognosis | Humans | Noonan Syndrome - therapy | Noonan Syndrome - physiopathology | Child, Preschool | Genetic Counseling - methods | Infant | Mutation, Missense | Noonan Syndrome - genetics | Pregnancy | Protein Tyrosine Phosphatases - genetics | Adolescent | Adult | Female | Child Development | Prenatal Diagnosis - methods | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Noonan syndrome | Distribution
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Loading RightsBest Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial...
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
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Loading RightsOrphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 13 - 13
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an...
HETEROGENEITY | MEDICINE, RESEARCH & EXPERIMENTAL | GERMLINE | HYPERTROPHIC CARDIOMYOPATHY | MULTIPLE LENTIGINES SYNDROME | PTPN11 GENE-MUTATIONS | GENETICS & HEREDITY | PHENOTYPE | PATIENT | NEUROFIBROMATOSIS-NOONAN-SYNDROME | NF1 GENE | RAF PROTEINS | 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
HETEROGENEITY | MEDICINE, RESEARCH & EXPERIMENTAL | GERMLINE | HYPERTROPHIC CARDIOMYOPATHY | MULTIPLE LENTIGINES SYNDROME | PTPN11 GENE-MUTATIONS | GENETICS & HEREDITY | PHENOTYPE | PATIENT | NEUROFIBROMATOSIS-NOONAN-SYNDROME | NF1 GENE | RAF PROTEINS | 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
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Loading RightsAnnual Review of Genomics and Human Genetics, ISSN 1527-8204, 8/2013, Volume 14, Issue 1, pp. 355 - 369
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the...
cardio-facio-cutaneous syndrome | Legius syndrome | Noonan syndrome | Costello syndrome | capillary malformation-arteriovenous malformation syndrome | neurofibromatosis | Ras MAPK | LEOPARD syndrome | signal transduction pathway | Neurofibromatosis | Capillary malformation-arteriovenous malformation syndrome | Cardio-facio-cutaneous syndrome | Signal transduction pathway | Ras/MAPK | LEOPARD-SYNDROME | FACIO-CUTANEOUS SYNDROME | OF-FUNCTION MUTATIONS | SOMATIC MOSAICISM | GENOMIC STRUCTURE | COSTELLO-SYNDROME | GENETICS & HEREDITY | CAUSE NOONAN-SYNDROME | GERMLINE MUTATIONS | PTPN11 MUTATIONS | NEUROFIBROMATOSIS TYPE-1 | Neoplasms - metabolism | Animals | Congenital Abnormalities - drug therapy | Humans | Congenital Abnormalities - physiopathology | Congenital Abnormalities - embryology | ras Proteins - metabolism | Congenital Abnormalities - metabolism | MAP Kinase Signaling System | Physiological aspects | Genetic disorders | Health aspects | Mitogen-activated protein kinases | Ras | capillary malformation–arteriovenous malformation syndrome | MAPK
cardio-facio-cutaneous syndrome | Legius syndrome | Noonan syndrome | Costello syndrome | capillary malformation-arteriovenous malformation syndrome | neurofibromatosis | Ras MAPK | LEOPARD syndrome | signal transduction pathway | Neurofibromatosis | Capillary malformation-arteriovenous malformation syndrome | Cardio-facio-cutaneous syndrome | Signal transduction pathway | Ras/MAPK | LEOPARD-SYNDROME | FACIO-CUTANEOUS SYNDROME | OF-FUNCTION MUTATIONS | SOMATIC MOSAICISM | GENOMIC STRUCTURE | COSTELLO-SYNDROME | GENETICS & HEREDITY | CAUSE NOONAN-SYNDROME | GERMLINE MUTATIONS | PTPN11 MUTATIONS | NEUROFIBROMATOSIS TYPE-1 | Neoplasms - metabolism | Animals | Congenital Abnormalities - drug therapy | Humans | Congenital Abnormalities - physiopathology | Congenital Abnormalities - embryology | ras Proteins - metabolism | Congenital Abnormalities - metabolism | MAP Kinase Signaling System | Physiological aspects | Genetic disorders | Health aspects | Mitogen-activated protein kinases | Ras | capillary malformation–arteriovenous malformation syndrome | MAPK
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Loading RightsNeurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma, 12/2000
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself....
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
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Journal of Paediatrics and Child Health, ISSN 1034-4810, 10/2014, Volume 50, Issue 10, pp. E14 - E20
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and...
short stature | PTPN11 | autosomal dominant | Noonan syndrome | congenital heart defect | DIAGNOSIS | PHENOTYPE | DISORDERS | OF-FUNCTION MUTATIONS | CHILDREN | PATHWAY | JUVENILE MYELOMONOCYTIC LEUKEMIA | PEDIATRICS | SPECTRUM | Prognosis | Humans | Noonan Syndrome - therapy | Child, Preschool | Infant | Male | Genetic Testing - methods | Early Intervention (Education) | Germ-Line Mutation | Adult | Female | Child | Infant, Newborn | Noonan Syndrome - diagnosis | Severity of Illness Index | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease | Risk Assessment | Developmental Disabilities - etiology | Survival Rate | Noonan Syndrome - genetics | Developmental Disabilities - epidemiology | Adolescent | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Early Diagnosis | Autosomal dominant | Short stature | Congenital heart defect | Genetic disorders | Sarcoma | Gene mutations | Medical genetics
short stature | PTPN11 | autosomal dominant | Noonan syndrome | congenital heart defect | DIAGNOSIS | PHENOTYPE | DISORDERS | OF-FUNCTION MUTATIONS | CHILDREN | PATHWAY | JUVENILE MYELOMONOCYTIC LEUKEMIA | PEDIATRICS | SPECTRUM | Prognosis | Humans | Noonan Syndrome - therapy | Child, Preschool | Infant | Male | Genetic Testing - methods | Early Intervention (Education) | Germ-Line Mutation | Adult | Female | Child | Infant, Newborn | Noonan Syndrome - diagnosis | Severity of Illness Index | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease | Risk Assessment | Developmental Disabilities - etiology | Survival Rate | Noonan Syndrome - genetics | Developmental Disabilities - epidemiology | Adolescent | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Early Diagnosis | Autosomal dominant | Short stature | Congenital heart defect | Genetic disorders | Sarcoma | Gene mutations | Medical genetics
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