Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. - Wikidata - awgldk - TriplyDB

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

http://www.wikidata.org/entity/Q34263083

about

RASopathies: unraveling mechanisms with animal models Genetics of inherited cardiocutaneous syndromes: a review JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Recent advances in RASopathies.Modeling RASopathies with Genetically Modified Mouse Models.A review of craniofacial and dental findings of the RASopathies.Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Nutritional aspects of Noonan syndrome and Noonan-related disorders.Intrinsically active MEK variants are differentially regulated by proteinases and phosphatases

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

http://www.wikidata.org/entity/Q34263083

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

@zh-tw

2014年论文

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name

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

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Amy E Roberts

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Brenda Conger

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Elizabeth I Pierpont

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Giovanni Neri

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Jacqueline Noonan

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Joseph Sullivan

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Katherine A Rauen

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Kent Reinker

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Maria Ines Kavamura

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Mary Ella M Pierpont

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

The cardiofaciocutaneous syndrome

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Evidence-based review of interventions for autism used in or of relevance to occupational therapy

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Germline KRAS mutations cause Noonan syndrome

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

A Noonan-like short stature syndrome with sparse hair.

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

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e1149-62

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10.1542/PEDS.2013-3189

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