MACURISK

Test genetico per la determinazione della suscettibilità individuale a sviluppare degenerazione maculare senile (AMD)

BIBLIOGRAFIA ESSENZIALE

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Liu MM, Chan CC, Tuo J.

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics.

​Hum Genomics. 2012

doi: 10.1186/1479-7364-6-13.

PMID: 23244519

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Awh CC, Lane AM, Hawken S, Zanke B, Kim IK.

CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration.

Ophthalmology. 2013 

doi: 10.1016/j.ophtha.2013.07.039.

PMID: 23972322

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Borel P, Lietz G, Goncalves A, Szabo de Edelenyi F, Lecompte S, Curtis P, Goumidi L, Caslake MJ, Miles EA, Packard C, Calder PC, Mathers JC, Minihane AM, Tourniaire F, Kesse-Guyot E, Galan P, Hercberg S, Breidenassel C, González Gross M, Moussa M, Meirhaeghe A, Reboul E.

CD36 and SR-BI are involved in cellular uptake of provitamin A carotenoids by Caco-2 and HEK cells, and some of their genetic variants are associated with plasma concentrations of these micronutrients in humans.

J Nutr. 2013 

doi: 10.3945/jn.112.172734.

PMID: 23427331

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Awh CC, Hawken S, Zanke BW.

Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the Age-Related Eye Disease Study.

Ophthalmology. 2015 

doi: 10.1016/j.ophtha.2014.07.049.

PMID: 25200399

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Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A.

Age-related macular degeneration: genetics and biology coming together.

Annu Rev Genomics Hum Genet. 2014

doi: 10.1146/annurev-genom-090413-025610.

PMID: 24773320

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ALZHEIMER RISK

Test genetico per la determinazione della suscettibilità individuale a sviluppare il morbo di Alzheimer

BIBLIOGRAFIA ESSENZIALE

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Srivastava I, Thukral N, Hasija Y.

GENETICS OF HUMAN AGE RELATED DISORDERS

Adv Gerontol. 2015

PMID:26856084

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Wollam ME, Weinstein AM, Saxton JA, Morrow L, Snitz B, Fowler NR, Suever Erickson BL, Roecklein KA, Erickson KI.

Genetic Risk Score Predicts Late-Life Cognitive Impairment

J Aging Res. 2015

doi: 10.1155/2015/267062

PMID: 26366299

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BRCA1/BRCA2 TEST

Test genetico per la determinazione di mutazioni nei geni BRCA1/BRCA2

BIBLIOGRAFIA ESSENZIALE

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Cintolo-Gonzalez JA, Braun D, Blackford AL, Mazzola E, Acar A, Plichta JK, Griffin M, Hughes KS.

Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications.

Breast Cancer Res Treat. 2017

doi: 10.1007/s10549-017-4247-z

PMID: 28444533

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Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D.

Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.

Medicine (Baltimore). 2016

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King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group.

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.

Science. 2003

PMID: 14576434

 

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SPORT PERFORMANCE TEST

Test genetico per l'analisi dei polimorfismi associati alla performance sportiva

BIBLIOGRAFIA ESSENZIALE

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Kambouris M, Ntalouka F, Ziogas G, Maffulli N.

Predictive genomics DNA profiling for athletic performance.

Recent Pat DNA Gene Seq. 2012

PMID: 22827597

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Eynon N, Alves AJ, Sagiv M, Yamin C, Sagiv M, Meckel Y.

Interaction between SNPs in the NRF2 gene and elite endurance performance.

Physiol Genomics. 2010

Erratum in: Physiol Genomics. 2010 Sep;42(1):78.

doi: 10.1152/physiolgenomics.00199.2009.

PMID: 20028934

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Eynon N, Meckel Y, Alves AJ, Yamin C, Sagiv M, Goldhammer E, Sagiv M.

Is there an interaction between PPARD T294C and PPARGC1A Gly482Ser polymorphisms and human endurance performance?

Exp Physiol. 2009

doi: 10.1113/expphysiol.2009.049668.

PMID: 19666693

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Eynon N, Hanson ED, Lucia A, Houweling PJ, Garton F, North KN, Bishop DJ.

Genes for elite power and sprint performance: ACTN3 leads the way.

Sports Med. 2013

doi: 10.1007/s40279-013-0059-4.

PMID: 23681449

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Ahmetov II, Williams AG, Popov DV, Lyubaeva EV, Hakimullina AM, Fedotovskaya ON, Mozhayskaya IA, Vinogradova OL, Astratenkova IV, Montgomery HE, Rogozkin VA.

The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes.

Hum Genet. 2009

doi: 10.1007/s00439-009-0728-4.

PMID: 19653005

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Eynon N, Ruiz JR, Bishop DJ, Santiago C, Gómez-Gallego F, Lucia A, Birk R.

The rs12594956 polymorphism in the NRF-2 gene is associated with top-level Spanish athlete's performance status.

J Sci Med Sport. 2013 

doi: 10.1016/j.jsams.2012.05.004.

PMID: 22749526

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Döring F, Onur S, Fischer A, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfarth B, Bouchard C.

A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes.

J Appl Physiol (1985). 2010

doi: 10.1152/japplphysiol.01165.2009.

PMID: 20299614

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Devaney JM, Hoffman EP, Gordish-Dressman H, Kearns A, Zambraski E, Clarkson PM.

IGF-II gene region polymorphisms related to exertional muscle damage.

J Appl Physiol (1985). 2007

DOI: 10.1152/japplphysiol.01165.2006

PMID: 17289909

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Tranah GJ, Taylor BC, Lui LY, Zmuda JM, Cauley JA, Ensrud KE, Hillier TA, Hochberg MC, Li J, Rhees BK, Erlich HA, Sternlicht MD, Peltz G, Cummings SR; Study of Osteoporotic Fractures (SOF) Research Group.

Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

Calcif Tissue Int. 2008

doi: 10.1007/s00223-008-9165-y.

PMID: 18787887

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NUTRIGENETICS

Pannello di Test genetici per l'analisi dei polimorfismi associati alle intolleranze alimentari

BIBLIOGRAFIA ESSENZIALE

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Apalasamy YD, Mohamed Z.

Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity.

Hum Genet. 2015. doi: 10.1007/s00439-015-1533-x.

PMID: 25687726

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Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I.

Identification of a variant associated with adult-type hypolactasia.

Nat Genet. 2002

PMID: 11788828

 

Maintz L, Novak N.

Histamine and histamine intolerance.

Am J Clin Nutr. 2007

PMID: 17490952

 

Ricaño-Ponce I, Wijmenga C, Gutierrez-Achury J.

Genetics of celiac disease.

Best Pract Res Clin Gastroenterol. 2015 doi: 10.1016/j.bpg.2015.04.004.

PMID: 26060105