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Lista de obras de Roberta Sestini

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

artículo científico publicado en 2015

Adenosine triphosphate release by osmotic shock and hemoglobin A1C in diabetic subjects' erythrocytes

artículo científico publicado en 1994

Application of COLD-PCR for improved detection of NF2 mosaic mutations

artículo científico publicado en 2014

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

artículo científico publicado en 2015

Detection of c-erbB-2 amplification in transitional cell bladder carcinoma using competitive PCR technique

artículo científico publicado en 1996

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

artículo científico publicado en 2008

Expanding the mutational spectrum of LZTR1 in schwannomatosis

artículo científico publicado en 2014

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

artículo científico publicado en 2008

High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

artículo científico publicado en 2011

High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer

scientific article published on 01 August 2008

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

article

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

artículo científico publicado en 2014

Multiple spinal ganglioneuromas in a patient harboring a pathogenicNF1mutation

artículo científico publicado en 2009

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis

artículo científico publicado en 2008

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

artículo científico publicado en 2014

Premature ovarian failure and fragile X premutation: a study on 45 women

scientific article published on 01 February 2004

Retrospective Evaluation of c-erbB-2 Oncogene Amplification using Competitive PCR in Collecting Duct Carcinoma of the Kidney

artículo científico publicado en 1997

SDH Mutations in Patients Affected by Paraganglioma Syndromes: A Personal Experience

scientific article published on 01 August 2006

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Susceptibility to Refractory Ulcerative Colitis Is Associated with Polymorphism in the hMLH1 Mismatch Repair Gene

article

Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population

artículo científico publicado en 2012

The c-erbB-2 oncogene amplification by competitive PCR in aneuploid cell clones flow sorted from breast cancer samples.

artículo científico publicado en 1999

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

article

The use of COLD-PCR and high-resolution melting analysis improves the limit of detection of KRAS and BRAF mutations in colorectal cancer.

artículo científico publicado en 2010

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