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List of works by Maurizio Genuardi

A PALB2 germline mutation associated with hereditary breast cancer in Italy

article

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

scientific article

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

article

A kindred with MYH-associated polyposis and pilomatricomas.

scientific article

A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations

scientific article published on January 2007

A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

scientific article published on December 1993

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

scientific article published in February 2005

A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients

scientific article published on 29 July 2008

A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene

scientific article

A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case

scientific article published on March 2007

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

scientific article

Aetiology of colorectal cancer and relevance of monogenic inheritance

scientific article published on January 2004

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

Analysis of 138 consecutive ovarian cancer patients: Incidence and characteristics of familial cases

scientific article published on 01 December 1990

Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation

article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

article

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

BRCA1-Related Malignancies in a Family Presenting with von Recklinghausen's Disease

scientific article published on 01 September 2002

Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase

scientific article (publication date: 20 October 2000)

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

scientific article published in June 2010

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

scientific article published on 15 February 2013

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

scientific article

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

scientific article published on August 1993

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

scientific article

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012

scientific article

Colchicine trial in PFAPA Syndrome and MEFV-negative patients.

scientific article published on 28 September 2015

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

scientific article published on 01 April 2011

Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature.

scientific article published on October 1995

Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

scientific article published on 23 September 2020

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

scientific article

Creutzfeldt-Jakob disease after non-commercial dura mater graft

scientific article published in The Lancet

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

scientific article published on 8 March 2011

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

scientific article published on 01 January 1995

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

scientific article published in November 2002

Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells

scientific article published on 01 October 1990

Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q

Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome

scientific article published on 30 October 2012

Effects of dexamethasone on the growth and epidermal growth factor receptor expression of the OVCA 433 ovarian cancer cells

scientific article published on February 1, 1992

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor

scientific article published on 3 October 2013

Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations

Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal–fetal flow

article

Erratum to “Effects of dexamethasone on the growth and epidermal growth factor receptor expression of the OVCA 433 ovarian cancer cells” [Mol. Cell. Endocrinol. 83 (1992) 183–193]

scholarly article published in Molecular and Cellular Endocrinology

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

scientific article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

scientific article published on 25 May 2011

Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population

scientific article published in June 2001

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

scientific article

First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia.

scientific article published in January 1995

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy

article

Four novelMSH2 andMLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

scientific article published on 01 June 2001

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity

scientific article published on 01 July 1996

Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC

scientific article published on 01 September 2007

Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes

scientific article published on 01 October 2018

Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families

article

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

scientific article published in June 2013

Genes for split hand/split foot and laterality defects on 7q22.1 and xq24-q27.1

article

Genetic STRs variation in a large population from Tuscany (Italy)

article

Genetic profiling of Bolivian population using 15 STR markers of forensic importance

scientific article published on 13 March 2009

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

scientific article published on February 2004

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

scientific article

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

article

Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast–ovarian cancer syndromes: a case report

article

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

scientific article

Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group

scientific article published on 27 September 2007

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

scientific article published on 3 June 2016

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

scientific article

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner

scientific article published in January 2008

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

scientific article published on 3 November 2017

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

scientific article published on 14 September 2020

Introduction of the DNase in forensic analysis

Investigation of G2-phase chromosomal radiosensitivity in hereditary non-polyposis colorectal cancer cells

scientific article published in July 2001

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

scientific article

Localization of the HLA class II-associated invariant chain gene to human chromosome band 5q32.

scientific article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

scientific article

Lone and secondary nonvalvular atrial fibrillation: Role of a genetic susceptibility

article published in 2007

Long-term cytogenetic effects of antineoplastic treatment in relation to secondary leukemia

scientific article published on 01 July 1988

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

scientific article published on 01 October 2019

MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1

scientific article

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

scientific article

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis

scientific article

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events ⬇️

scientific article

Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4.

scientific article published in February 2009

Maternal-Fetal Flow, Negative Events, and Preeclampsia

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

scientific article published on 13 April 2009

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

scientific article published on 05 December 2019

Microsatellite Instability Is an Independent Indicator of Recurrence in Sporadic Stage I-II Endometrial Adenocarcinoma

scientific article published on 01 February 2001

Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer

article

Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes

scientific article

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

scientific article published on 2 December 2011

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

article published in 1999

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

article

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

scientific article

Nonhomologous Robertsonian translocations(NHRTs) and uniparental disomy(UPD) risk: an Italian multicentric prenatal survey

article

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia

scientific article published on 22 April 2019

Oral-facial-skeletal syndromes

article by Giovanni Neri et al published 20 November 1995 in American Journal of Medical Genetics Part A

PCR detection of an insertion/deletion polymorphism in intron 1 of the HRAS1 locus ⬇️

scientific article published on March 11, 1992

PFAPA syndrome as an hereditary autoinflamatory disorder

scientific article

Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic leukemia with t(8;14), secondary to treatment for Hodgkin's disease

article

Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations

scientific article

Planning the human variome project: the Spain report.

scientific article published in April 2009

Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease

article

Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.

scientific article published in October 1994

Primary constitutional MLH1 epimutations: a focal epigenetic event

scientific article published on 04 October 2018

Progressive Dementia in a Young Patient with a Homozygous Deletion of the PrP Gene

article

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

scientific article published in February 1995

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

article

Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives

scientific article published on 25 May 2019

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

scientific article

Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers

scientific article published in September 2005

Reply to Jaskowski et al

Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias

scientific article published on 28 August 2019

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

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

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

scientific article

Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics

article

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

scientific article

Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?

article by Maurizio Genuardi et al published 1 July 1994 in American Journal of Medical Genetics Part A

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion

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

article

Tacrolimus causes reduced GLI1 expression and phenotypic changes in the TE 354.T basal cell carcinoma cell line

scientific article published on 9 December 2008

The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability

scientific article (publication date: November 1999)

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

scientific article

The growing complexity of the intestinal polyposis syndromes

scientific article

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

article

The policy of public health genomics in Italy

article

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil

article published in 2011

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

scientific article published on 26 October 2009

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

scientific article published in May 2007

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

scientific article

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

scientific article

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

scientific article published in January 1995

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype

scientific article

Workload measurement for molecular genetics laboratory: A survey study

scientific article published in PLoS ONE

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