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Genetic tests



“Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian project on standardisation and quality assurance”.
D. Taruscio, V. Falbo, G. Floridia, M. Salvatore, C. Pescucci, A. Cantafora, C. Marongiu, A. Baroncini, E. Calzolari, A. Cao, G. Castaldo, F.Dagna Bricarelli, G. Guanti, L. Nitsch, P.F. Pignatti, C. Rosatelli, F. Salvatore, O. Zuffardi.
Clin Chem Lab Med 2004; 42 (8): 915-921

“The external quality assessment in classical cytogenetics: the Italian experience”.
G. Floridia, C. Marongiu, M. Salvatore, D. Taruscio.
European Society of Human Genetics Conference, International Congress Center, Munich, Germany, June 12 - 15, 2004.

“The Italian...

Published 01-28-2005 in Scientific Literature , last update 02-17-2001 More...

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Genetic and cellular analysis of Italian patients with a Nijmegen Breakage-like phenotype



Genetic Heterogeneity Among Patients With A Nijmegen Breakage Syndrome Phenotype.
A. Antoccia, A. di Masi, M. Salvatore, C. Fiorini, S. Giliani, A. Plebani D. Taruscio e C. Tanzarella.
Molecular cross " talk among chromosome fragility syndromes. Madrid, February 2 " 4, 2004. Abstract book, pp.54.

Genetic characterization of NBS " like patients defective in double strand breaks repair mechanism.
M. Salvatore, A. di Masi, A. Antoccia, F. Berardinelli, C. Fiorini, D. Taruscio.
European Society of Human Genetics Conference, International Congress Center, Munich, Germany, June 12 - 15, 2004.

Genetic and cellular analysis of Italian patients with a Nijmegen Breakage-like phenotype.
Antoccia...

Published 01-28-2005 in Scientific Literature , last update 02-17-2001 More...

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Identification of genetic markers for diagnosis and prognosis of rare tumors



Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors.
Floridia G, Grilli G, Salvatore M, Pescucci C, Moore PS, Scarpa A, Taruscio D.
Cancer Genet Cytogenet. 2005 Jan 1;156(1):23-30

Pancreatic acinar carcinoma shows a distinct pattern of chromosomal imbalances by comparative genomic hybridization.
Taruscio D, Paradisi S, Zamboni G, Rigaud G, Falconi M, Scarpa A.[/ i]
Genes Chromosomes Cancer. 2000 Jul;28(3):294-9.

Allelotype of pancreatic acinar cell carcinoma.
Rigaud G, Moore PS, Zamboni G, Orlandini S, Taruscio D, Paradisi S, Lemoine NR, Kloppel G, Scarpa A. I
nt J Cancer. 2000 Dec 1;88(5):772-7.

Nonrandom...

Published 01-28-2005 in Scientific Literature , last update 02-17-2001 More...

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1document

The HuGENet HuGE Review Handbook



Per consultare il documento "The HuGENet™ HuGE Review Handbook, version 1", vedere la sezione "Documenti relativi"



Published 01-28-2005 in Scientific Literature , last update 02-17-2001 More...

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Technical Standards and Guidelines: <br>Molecular Genetic Testing for Ultra-Rare Disorders



Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders


Anne Maddalena, Sherri Bale, Soma Das, Wayne Grody, Sue Richards, and the ACMG Laboratory Quality Assurance Committee

Questo documento è stato sviluppato dal Ultra Rare Disorders Working Group con l’ausilio del Laboratory Quality Assurance Committee.
Lo scopo di questo documento è di fornire informazioni utili ai laboratori che effettuano test diagnostici su malattie rare utilizzando tecniche di analisi citogenetiche e biochimiche.

ACMG Standard Guidelines
Genet Med., 7(8):571-83, 2005.



Published 01-28-2005 in Scientific Literature , last update 02-17-2001 More...

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