Noonan syndrome: clinical features, diagnosis, and management guidelines. - Wikidata - wikimedia - TriplyDB

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

http://www.wikidata.org/entity/Q37793648

about

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome Syndromic disorders with short stature Genetics of congenital heart disease: the glass half empty Noonan syndrome Small G proteins in the cardiovascular system: physiological and pathological aspects The RASopathies Development of bilateral coronary artery aneurysms in a child with Noonan syndrome.Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.Growth hormone treatment in non-growth hormone-deficient children Noonan syndrome.Genetic evaluation of short stature.Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment.Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.BRAF gene: From human cancers to developmental syndromes.Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome.Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program.Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?New Genetic Insights into Congenital Heart Disease.Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.Partitioning the heart: mechanisms of cardiac septation and valve development Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.The Role of the Geneticist and Genetic Counselor in an ACHD Clinic.Atypical face shape and genomic structural variants in epilepsy.Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program® registry Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome.Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.Psychological and social factors in undergoing reconstructive surgery among individuals with craniofacial conditions: an exploratory study.Predictors of Long-Term Outcome in Children with Hypertrophic Cardiomyopathy.Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature Do you know this syndrome? Noonan syndrome.New and Unexpected Biological Functions for the Src-Homology 2 Domain-Containing Phosphatase SHP-2 in the Gastrointestinal Tract.Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.Developmental changes in hematopoietic stem cell properties.

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P2860

Noonan syndrome: clinical features, diagnosis, and management guidelines.

http://www.wikidata.org/entity/Q37793648

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 September 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Noonan syndrome: clinical features, diagnosis, and management guidelines.

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Noonan syndrome: clinical features, diagnosis, and management guidelines.

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type

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Noonan syndrome: clinical features, diagnosis, and management guidelines.

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Noonan syndrome: clinical features, diagnosis, and management guidelines.

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Noonan syndrome: clinical features, diagnosis, and management guidelines.

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Noonan syndrome: clinical features, diagnosis, and management guidelines.

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Alicia A Romano

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Amy E Roberts

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Bruce D Gelb

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Bryan Hall

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Clifford M Takemoto

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Jacqueline A Noonan

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Jovanna Dahlgren

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Judith E Allanson

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Mary Ella Pierpont

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Wanda Robinson

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746-759

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10.1542/PEDS.2009-3207

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2010-09-27T00:00:00Z

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