List of works - Roberta Sestini

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

scientific article

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

scientific article published on 01 April 1994

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

scientific article published on 09 May 2014

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

scientific article published on 6 May 2015

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

scientific article published on 01 December 1996

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

scientific article

Expanding the mutational spectrum of LZTR1 in schwannomatosis

scientific article published on 22 October 2014

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

scientific article

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

scientific article

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

scientific article

Multiple spinal ganglioneuromas in a patient harboring a pathogenicNF1mutation

scientific article published on 23 October 2009

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

scientific article

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

scientific article published on 01 March 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

scientific article published on 01 July 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

scientific article published on 01 February 2012

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

scientific article published on June 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.

scientific article

List of works by Roberta Sestini

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

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

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

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

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

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

Expanding the mutational spectrum of LZTR1 in schwannomatosis

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

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

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

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

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

Multiple spinal ganglioneuromas in a patient harboring a pathogenicNF1mutation

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

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

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

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

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

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

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

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

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

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