Výsledky vyhledávání

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Autor: Paolo Radice, Manuela Marra, Vincenzo Falbo, L. Varesco, A. Ravani, Maria Antonietta Melis, Michele Antonio Salvatore, Nicoletta Resta, Fabrizio Tosto, A. M. Baffico, E. Pelo, S Russo, Manuela Seia, C. Rosatelli, Domenica Taruscio, Giovanna Floridia, Federica Censi, Marina Grasso

Publikováno v: BioMed Research International
BioMed Research International, Vol 2013 (2013)

Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51c33ed4bddac7c14b1372d66dad510
https://doi.org/10.1155/2013/739010

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Akademický článek

Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene.

Autor: Efremova, Anna¹ (AUTHOR) anna.efremova@med-gen.ru, Melyanovskaya, Yuliya¹ (AUTHOR), Krasnova, Maria¹ (AUTHOR), Voronkova, Anna¹ (AUTHOR), Mokrousova, Diana¹ (AUTHOR), Zhekaite, Elena¹ (AUTHOR), Bulatenko, Nataliya¹ (AUTHOR), Makhnach, Oleg¹ (AUTHOR), Bukharova, Tatiana¹ (AUTHOR), Kutsev, Sergei¹ (AUTHOR), Goldshtein, Dmitry¹ (AUTHOR), Kondratyeva, Elena¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10424. 14p.

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Identification of Mediterranean β-Thalassemia Mutations by Reverse DOT-Blot in Italians and Egyptians

Autor: M S Rady, G V Sciarratta, Ibtessam R. Hussein, A S Khalifa, S A Temtamy, M Baffico, N M Heshmat, S el-Moselhy, G Romeo

Publikováno v: Scopus-Elsevier

beta-Thalassemia is a significant public health problem in Egypt where over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. A preventive program of the disease should be multifaceted with its technical componen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0b129aea1ba2ca36a47f7bb282066e
https://doi.org/10.3109/03630269708997511

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3D kinematics through the X-shaped Milky Way bulge

Autor: Annie C. Robin, S. Vasquez, Veronica Motta, Marina Rejkuba, Oscar A. Gonzalez, Manuela Zoccali, Victor P. Debattista, Vanessa Hill, Alvio Renzini, Dante Minniti, M. Baffico, Matteo Monelli, E. Gardner

Publikováno v: Astronomy and Astrophysics-A&A
Astronomy and Astrophysics-A&A, EDP Sciences, 2013, 555, pp.A91. ⟨10.1051/0004-6361/201220222⟩
ASTRONOMY & ASTROPHYSICS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

It has recently been discovered that the Galactic bulge is X-shaped, with the two southern arms of the X both crossing the lines of sight at l=0 and |b|>4, hence producing a double red clump (RC) in the bulge CMD. Dynamical models predict the formati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba08202193e4cc20a8af65f69ba5df1
http://arxiv.org/abs/1304.6427

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Pucheros: a cost-effective solution for high-resolution spectroscopy with small telescopes

Autor: Carlos Guirao, Th. Rivinius, Krzysztof G. Hełminiak, Leonardo Vanzi, G. Avila, D. Baade, S. Štefl, J. Chacon, M. Baffico

Publikováno v: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

We present PUCHEROS, the high-resolution echelle spectrograph, developed at the Center of Astro-Engineering of Pontificia Universidad Catolica de Chile to provide an effective tool for research and teaching of astronomy. The instrument is fed by a si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d380d90d917e7af6d155823d9eadc3f

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FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?

Autor: P, Prontera, A, Sensi, G, Pilu, M, Baldi, M, Baffico, R, Bonasoni, E, Calzolari

Publikováno v: Genetic counseling (Geneva, Switzerland). 17(4)

Thanatophoric dysplasia (TD) is a lethal dwarfism condition due to missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Examination of TD patients reveals mainly the involvement of the skeletal system and the brain, but also re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d82c90f87d34d7412fd8bc87ffcd9423
https://pubmed.ncbi.nlm.nih.gov/17375526

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Direct DNA analysis in a new Italian carrier of Hb-Belfast: beta 15 (A12) Trp--Arg

Autor: V, Scimè-Degani, G, Ivaldi, M, Baffico, D, Leone, M, Parodi, D, Pascotto, F, Garofalo, E, Rabino-Massa

Publikováno v: Panminerva medica. 43(2)

A young woman aged 21 was found to be a new carrier of Hb-Belfast: beta 15 (A 12) Trp--Arg, and the characteristics of her hemoglobinopathy were not different from those of the four cases so far described: mild hemolysis with molecular instability of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1d38270f35639435b8d2ec70e411a014
https://pubmed.ncbi.nlm.nih.gov/11449185

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[Familial Mediterranean fever: report of a case]

Autor: M P, Parodi, T, Coialbu, M, Pittaluga, R, Cosso, R, Bevevino, F, Minervini, M, Baffico

Publikováno v: La Clinica terapeutica. 151(6)

Familial Mediterranean fever is an autosomal recessive hereditary disease characterised by recurrent fever, poliserositis, chest and/or abdominal pain. Up to date diagnosis is based on clinical symptoms, familial anamnesis and response to colchicine.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::daef1f7cc04d925b45d433c8b34164a6
https://pubmed.ncbi.nlm.nih.gov/11211479

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A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype

Autor: Mario Pirastu, Antonio Cao, Stefania Murru, D. Poddie, M. Baffico, S. Agosti, C. Melevendi, G. V. Sciarratta

Publikováno v: Human mutation. 1(2)

This study describes a patient with a thalassemia intermedia-like phenotype in whom beta-globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T-C substitution at codon 114 of the beta-globin gene arising as a de novo mutation. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173aa52e33d3d7a22b483c3bf99cbe34
https://pubmed.ncbi.nlm.nih.gov/1301199

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