NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. - Wikidata - awgldk - TriplyDB

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

http://www.wikidata.org/entity/Q34137459

about

Leopard syndrome Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography Of mice and men: molecular genetics of congenital heart disease LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.On the value of homogeneous constructs for construct validation, theory testing, and the description of psychopathology Noonan syndrome: clinical aspects and molecular pathogenesis.Next-generation sequencing identifies rare variants associated with Noonan syndrome Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms Noonan syndrome and clinically related disorders.PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.An activating mutation in sos-1 identifies its Dbl domain as a critical inhibitor of the epidermal growth factor receptor pathway during Caenorhabditis elegans vulval development.The role of SH3BP2 in the pathophysiology of cherubism.Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 An unexpected new role of mutant Ras: perturbation of human embryonic development Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms.Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Extensive Retropharyngeal and Spinal Plexiform Neurofibromas in a Neonate with Type 1-Neurofibromatosis.Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.Multiple café au lait spots in familial patients with MAP2K2 mutation.Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

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P2860

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

http://www.wikidata.org/entity/Q34137459

description

2005 nî lūn-bûn

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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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name

NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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American Journal of Human Genetics

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NF1 gene mutations represent t ...... ofibromatosis-Noonan syndrome.

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Agatino Battaglia

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Alessandro De Luca

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Anna Sarkozy

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Annalisa Schirinzi

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Bruno Marino

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Cinzia Neri

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Emanuela Conti

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Emanuele Bellacchio

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Giuseppe Zampino

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Irene Bottillo

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P2860

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

Somatic mutations in the neurofibromatosis 1 gene in human tumors

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

The neurofibromatosis type 1 gene encodes a protein related to GAP

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

Unraveling hot spots in binding interfaces: progress and challenges

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

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1092-1101

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10.1086/498454

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6

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77

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Bruno Dallapiccola

Marco Tartaglia

Massimo Carella

Antonio Pizzuti

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2005-10-26T00:00:00Z

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16380919

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