PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation - Wikidata - wikimedia - TriplyDB

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

http://www.wikidata.org/entity/Q28081443

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Neurocutaneous Manifestations of Genetic Mosaicism Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Localised intravascular coagulation complicating venous malformations in children: Associations and therapeutic options.Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Somatic PIK3CA mutations as a driver of sporadic venous malformations.PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.Sonographic screening for Wilms tumor in children with CLOVES syndrome.Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis Venous Thromboembolism in Pediatric Vascular Anomalies The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).Altered Adipose-Derived Stem Cell Characteristics in Macrodactyly.De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome Venous malformations: PIK3CA mutations guide new treatments.Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Epidermal nevus syndromes: New insights into whorls and swirls.Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.New Frontiers in Our Understanding of Lymphatic Malformations of the Head and Neck: Natural History and Basic Research.Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.The importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations.Mosaic disorders and the Taxonomy of Human Disease.Oral sildenafil as a treatment option for lymphatic malformations in PIK3CA-related tissue overgrowth syndromes.Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.

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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

http://www.wikidata.org/entity/Q28081443

description

2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

PIK3CA-related overgrowth spec ...... tial diagnosis, and evaluation

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PIK3CA-related overgrowth spec ...... tial diagnosis, and evaluation

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PIK3CA-related overgrowth spec ...... tial diagnosis, and evaluation

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American Journal of Medical Genetics Part A

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PIK3CA-related overgrowth spec ...... tial diagnosis, and evaluation

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Jonathan J. Rios

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Julie C. Sapp

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Marjorie J. Lindhurst

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Marybeth Ezaki

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Robert K. Semple

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Victoria E.R. Parker

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P2860

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Will the real Cowden syndrome please stand up: revised diagnostic criteria

PTEN: one gene, many syndromes

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

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287-95

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scholarly article

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4804018

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10.1002/AJMG.A.36836

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2

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167A

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William B. Dobyns

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Kim M Keppler-Noreuil

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2015-02-01T00:00:00Z

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270294631

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25557259

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