Michele D’Urso - Publications, H-index & Citations

Michele D’Urso

consiglio nazionale delle ricerche (cnr)

42H指数

156论文数

7.6K被引数

收录论文 33

发表时间

Functional Characterization of Wiskott-Aldrich Syndrome Protein and Scar Homolog (WASH), a Bi-modular Nucleation-promoting Factor Able to Interact with Biogenesis of Lysosome-related Organelle Subunit 2 (BLOS2) and γ-Tubulin

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2010-05-01

OAAI

Monfregola, Jlenia; Napolitano, Gennaro; D'Urso, Michele; Lappalainen, Pekka; Ursini, Matilde Valeria

The LCR at the IKBKG Locus Is Prone to Recombine

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2010-04-01

OAAI

Fusco, Francesca; D'Urso, Michele; Miano, Maria Giuseppina; Ursini, Matilde Valeria

Microdeletion/Duplication at the Xq28 IP Locus Causes a De Novo IKBKG/NEMO/IKKgamma exon4_10 Deletion in Families with Incontinentia Pigmenti

HUMAN MUTATION

IF3.7

2009-09-01

PREAI

Fusco, Francesca; Paciolla, Mariateresa; Pescatore, Alessandra; Lioi, Maria Brigida; Ayuso, Carmen; Faravelli, Francesca; Gentile, Mattia; Zollino, Marcella; D'Urso, Michele; Miano, Maria Giuseppina; Ursini, Matilde Valeria

DDX11L: a novel transcript family emerging from human subtelomeric regions

BMC GENOMICS

IF3.7

2009-05-28

OAAI

Costa, Valerio; Casamassimi, Amelia; Roberto, Roberta; Gianfrancesco, Fernando; Matarazzo, Maria R.; D'Urso, Michele; D'Esposito, Maurizio; Rocchi, Mariano; Ciccodicola, Alfredo

Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutations

HUMAN MUTATION

IF3.7

2008-03-18

OAAI

Fusco, Francesca; Pescatore, Alessandra; Bal, Elodie; Ghoul, Aida; Paciolla, Mariateresa; Lioi, Maria Brigida; D'Urso, Michele; Rabia, Smail Hadj; Bodemer, Christine; Bonnefont, Jean Paul; Munnich, Arnold; Miano, Maria Giuseppina; Smahi, Asma; Ursini, Matilde Valeria

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction

HUMAN REPRODUCTION

IF6.1

2005-10-20

PREAI

Fimiani, G; Laperuta, C; Falco, G; Ventruto, V; D'Urso, M; Ursini, MV; Miano, MG

Incontinentia pigmenti with NEMO mutation in a Turkish family

INTERNATIONAL JOURNAL OF DERMATOLOGY

IF3.2

2004-06-29

OAAI

Silan, F; Aydogan, I; Kavak, A; Bardaro, T; D'Urso, M

Characterization of the human STAT5A and STAT5B promoters:: evidence of a positive and negative mechanism of transcriptional regulation

FEBS LETTERS

IF3

2004-03-04

PREAI

Crispi, S; Sanzari, E; Monfregola, J; De Felice, N; Fimiani, G; Ambrosio, R; D'Urso, M; Ursini, MV

Human synaptobrevin-like 1 gene basal transcription is regulated through the interaction of selenocysteine tRNA gene transcription activating factor-zinc finger 143 factors with evolutionary conserved cis-elements

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2004-02-01

OAAI

Di Leva, F; Ferrante, MI; Demarchi, F; Caravelli, A; Matarazzo, MR; Giacca, M; D'Urso, M; D'Esposito, M; Franzé, A

High-resolution methylation analysis of the hMLH1 promoter in sporadic endometrial and colorectal carcinomas

CANCER

IF5.1

2003-08-25

OAAI

Strazzullo, M; Cossu, A; Baldinu, P; Colombino, M; Satta, MP; Tanda, F; De Bonis, ML; Cerase, A; D'Urso, M; D'Esposito, M; Palmieri, G

Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia

LANCET

IF88.5

2003-05-01

381

PREAI

Ingrosso, D; Cimmino, A; Perna, AF; Masella, L; De Santo, NG; De Bonis, ML; Vacca, M; D'Esposito, M; D'Urso, M; Galletti, P; Zappia, V

Two cases of misinterpretation of molecular results in incontinentia pligmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion

HUMAN MUTATION

IF3.7

2002-12-20

OAAI

Bardaro, T; Falco, G; Sparago, A; Mercadente, V; Molins, EG; Tarantino, E; Ursini, MV; D'Urso, M

The ABCA4 2588G > C Stargardt mutation:: Single origin and increasing frequency from South-West to North-East Europe

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2002-04-25

OAAI

Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzàlez-Duarte, R; Kaplan, J; Meerman, GJT; Santoss, R; Schwartz, M; Van Camp, G; Wadelius, C; Weber, BHF; Cremers, FPM

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28

GENOMICS

IF3

2002-01-01

PREAI

Aradhya, S; Woffendin, H; Bonnen, P; Heiss, NS; Yamagata, T; Esposito, T; Bardaro, T; Poustka, A; D'Urso, M; Kenwrick, S; Nelson, DL

Differential divergence of three human pseudoautosomal genes and their mouse homologs: Implications for sex chromosome evolution

GENOME RESEARCH

IF5.5

2001-12-01

OAAI

Gianfrancesco, F; Sanges, R; Esposito, T; Tempesta, S; Rao, E; Rappold, G; Archidiacono, N; Graves, JAM; Forabosco, A; D'Urso, M

Functional analysis of MLHI mutations linked to hereditary nonpolyposis colon cancer

GENES CHROMOSOMES & CANCER

IF2.8

2001-11-16

100

OAAI

Nyström-Lahti, M; Perrera, C; Räschle, M; Panyushkina-Seiler, E; Marra, G; Curci, A; Quaresima, B; Costanzo, F; D'Urso, M; Venuta, S; Jiricny, J

Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains

HUMAN MUTATION

IF3.7

2001-07-13

PREAI

Miano, MG; Testa, F; Filippini, F; Trujillo, M; Conte, I; Lanzara, C; Millán, JM; De Bernardo, C; Grammatico, B; Mangino, M; Torrente, I; Carrozzo, R; Simonelli, F; Rinaldi, E; Ventruto, V; D'Urso, M; Ayuso, C; Ciccodicola, A

Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain

TRENDS IN BIOCHEMICAL SCIENCES

IF11

2001-07-01

115

PREAI

Filippini, F; Rossi, V; Galli, T; Budillon, A; D'Urso, M; D'Esposito, M

Smith-Lemli-Opitz syndrome:: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

1999-12-08

OAAI

De Brasi, D; Esposito, T; Rossi, M; Parenti, G; Sperandeo, MP; Zuppaldi, A; Bardaro, T; Ambruzzi, MA; Zelante, L; Ciccodicola, A; Sebastio, G; D'Urso, M; Andria, G

Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region

GENOMICS

IF3

1999-12-01

PREAI

Vacca, M; Matarazzo, MR; Jones, J; Spalluto, C; Archidiacono, N; Ma, P; Rocchi, M; D'Urso, M; Chen, EY; D'Esposito, M; Mumm, S

研究方向