I. Persico

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Edinburgh Research Explorer Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Tom R. Gaunt, Andrew D. Johnson, Nicholette D. Palmer, 2022 .

Bmc Medical Genetics Microsatellites and Snps Linkage Analysis in a Sardinian Genetic Isolate Confirms Several Essential Hypertension Loci Previously Identified in Different Populations

M. P. Concas, A. Angius, N. Pirastu, 2022 .

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

E. Petretto, M. Falchi, A. Angius, 2002, Human Genetics.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

G. Zampino, A. Angius, L. Crisponi, 2016, American journal of human genetics.

Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis

M. P. Concas, T. Thornton, P. Usai, 2011, PLoS genetics.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

F. Cucca, A. Angius, L. Crisponi, 2019, BMC Medical Genetics.

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

A. Angius, R. Barone, I. Persico, 2003, Genes and Immunity.

A new case series of Crisponi syndrome in a Turkish family and review of the literature

L. Crisponi, S. Bayraktar, I. Persico, 2017, Clinical dysmorphology.

EDA2R is associated with androgenetic alopecia.

Andrea Picciau, Mario Pirastu, Andrea Angius, 2008, The Journal of investigative dermatology.

A strategy analysis for genetic association studies with known inbreeding

Stefano Cabras, Maria Eugenia Castellanos, Francesco Bertolino, 2011, BMC Genetics.

Identification of a founder BRCA2 mutation in Sardinia

A. Cossu, M. Budroni, A. Angius, 2000, British Journal of Cancer.

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Fabian J Theis, Andrew D. Johnson, Lorna M. Lopez, 2012, Nature Genetics.

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

A. Angius, N. Pirastu, G. Pistis, 2009, PloS one.

A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.

Mario Falchi, Andrea Picciau, Mario Pirastu, 2004, American journal of human genetics.

BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling.

M. Stratton, J. Mangion, A. Cossu, 2002, Annals of oncology : official journal of the European Society for Medical Oncology.

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.

A D Carothers, P M Visscher, P. Visscher, 2003, Human molecular genetics.

Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma

A. Angius, P. Uva, M. Muroni, 2020, Scientific Reports.

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

I. Persico, V. Antona, G. Corsello, 2020, Clinical dysmorphology.

Molecular Characterization of β-Thalassemia Mutations in Central Vietnam

F. Cucca, P. Mereu, P. Hoa, 2017, Hemoglobin.

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family

L. Crisponi, I. Persico, A. Seth, 2020, Indian Pediatrics.

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

G. Zampino, L. Crisponi, I. Buers, 2019, Clinical genetics.

Methylenetetrahydrofolate Reductase (MTHFR) from Mediterranean to Sub-Saharan Areas

A. Angius, I. Persico, A. Sassu, 2006 .

Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.

A. Angius, I. Persico, A. Sassu, 2005, Clinica chimica acta; international journal of clinical chemistry.

Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies

Francisco M. De La Vega, Mario Pirastu, Andrea Angius, 2007, Human Heredity.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019 .

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

G. Zampino, A. Angius, L. Crisponi, 2018, American journal of human genetics.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

R. Hennekam, F. Cucca, A. Angius, 2019, American journal of medical genetics. Part A.

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

F. Cucca, A. Angius, L. Crisponi, 2018, Clinical genetics.

PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis

A. Mangoni, A. Cossu, G. Palmieri, 2023, Current oncology.

Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso: impact on plasma fasting homocysteine and after methionine loading test.

A. Angius, I. Persico, A. Sassu, 2007, Clinical Laboratory.

A strategy analysis for genetic association studies with known inbreeding

S. Cabras, M. Castellanos, N. Pirastu, 2011, BMC Genetics.

Bmc Medical Genetics Microsatellites and Snps Linkage Analysis in a Sardinian Genetic Isolate Confirms Several Essential Hypertension Loci Previously Identified in Different Populations

M. P. Concas, A. Angius, N. Pirastu, 2022 .