FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Michele D'Urso

Research Profile

Anatomy

Concepts & Ideas

Chemicals & Drugs

Procedures

Disorders

Incontinentia Pigmenti

Physiology

Mutation

Genes & Molecular Sequences

Living Beings

Mouse

Co-author Network

Publications

TOP 3
Jlenia Monfregola; Gennaro Napolitano; Michele D'Urso; Pekka Lappalainen; Matilde Valeria Ursini
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 gamma-tubulin.
Francesca Fusco; Mariateresa Paciolla; Alessandra Pescatore; Maria Brigida Lioi; Carmen Ayuso; Francesca Faravelli; Mattia Gentile; Marcella Zollino; Michele D'Urso; Maria Giuseppina Miano; Matilde Valeria Ursini
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
Valerio Costa; Amelia Casamassimi; Roberta Roberto; Fernando Gianfrancesco; Maria R Matarazzo; Michele D'Urso; Maurizio D'Esposito; Mariano Rocchi; Alfredo Ciccodicola
DDX11L: a novel transcript family emerging from human subtelomeric regions.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Michele D'Urso (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2010: Jlenia Monfregola; Gennaro Napolitano; Michele D'Urso; Pekka Lappalainen; Matilde Valeria Ursini
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 gamma-tubulin.
The Journal of biological chemistry 2010;285(22):16951-7.
2009: Francesca Fusco; Mariateresa Paciolla; Alessandra Pescatore; Maria Brigida Lioi; Carmen Ayuso; Francesca Faravelli; Mattia Gentile; Marcella Zollino; Michele D'Urso; Maria Giuseppina Miano; Matilde Valeria Ursini
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
Human mutation 2009;30(9):1284-91.
2009: Valerio Costa; Amelia Casamassimi; Roberta Roberto; Fernando Gianfrancesco; Maria R Matarazzo; Michele D'Urso; Maurizio D'Esposito; Mariano Rocchi; Alfredo Ciccodicola
DDX11L: a novel transcript family emerging from human subtelomeric regions.
BMC genomics 2009;10():250.
2008: Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean-Paul Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Human mutation 2008;29(5):595-604.
2007: Jlenia Monfregola; Gennaro Napolitano; Ivan Conte; Armando Cevenini; Carmen Migliaccio; Michele D'Urso; Matilde Valeria Ursini
Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.
Gene 2007;395(1-2):86-97.
2007: Carmela Laperuta; Letizia Spizzichino; Pio D'Adamo; Jlenia Monfregola; Antonio Maiorino; Angela D'Eustacchio; Valerio Ventruto; Giovanni Neri; Michele D'Urso; Pietro Chiurazzi; Matilde Valeria Ursini; Maria Giuseppina Miano
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
BMC medical genetics 2007;8():25.
2007: Maria Giuseppina Miano; Carmela Laperuta; Pietro Chiurazzi; Michele D'Urso; Matilde Valeria Ursini
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.
BMC medical genetics 2007;8():18.
2006: Giorgia Fimiani; Carmela Laperuta; Geppino Falco; Valerio Ventruto; Michele D'Urso; Matilde Valeria Ursini; Maria Giuseppina Miano
Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.
Human reproduction (Oxford, England) 2006;21(2):529-35.
2005: Jlenia Monfregola; Armando Cevenini; Antonio Terracciano; Naomi van Vlies; Salvatore Arbucci; Ronald J A Wanders; Michele D'Urso; Frédéric M Vaz; Matilde Valeria Ursini
Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
Journal of cellular physiology 2005;204(3):839-47.
2004: Francesca Fusco; Tiziana Bardaro; Giorgia Fimiani; Vincenzo Mercadante; Maria Giuseppina Miano; Geppino Falco; Alain Israël; Gilles Courtois; Michele D'Urso; Matilde Valeria Ursini
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Human molecular genetics 2004;13(16):1763-73.
2004: Fatma Silan; Ilker Aydogan; Ayse Kavak; Tiziana Bardaro; Michele D'Urso
Incontinentia pigmenti with NEMO mutation in a Turkish family.
International journal of dermatology 2004;43(7):527-9.
2004: Valeria Rossi; Raffaella Picco; Marcella Vacca; Maurizio D'Esposito; Michele D'Urso; Thierry Galli; Francesco Filippini
VAMP subfamilies identified by specific R-SNARE motifs.
Biology of the cell / under the auspices of the European Cell Biology Organization 2004;96(4):251-6.
2004: Stefania Crispi; Emma Sanzari; Jlenia Monfregola; Nicola De Felice; Giorgia Fimiani; Raffaele Ambrosio; Michele D'Urso; Matilde Valeria Ursini
Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation.
FEBS letters 2004;562(1-3):27-34.
2004: Francesca Di Leva; Maria Immacolata Ferrante; Francesca Demarchi; Antonella Caravelli; Maria Rosaria Matarazzo; Mauro Giacca; Michele D'Urso; Maurizio D'Esposito; Annamaria Franzé
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.
The Journal of biological chemistry 2004;279(9):7734-9.
2003: Francesca Di Leva; Adamo Pio D'Adamo; Luiaino Strollo; Gennaro Auletta; Antonella Caravelli; Massimo Carella; Francesca Mari; Walter Livi; Alessandra Renieri; Paolo Gasparini; Michele D'Urso; Elio Marciano; Annamaria Franzé
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
International journal of audiology 2003;42(8):475-80.
2003: Maria Strazzullo; Antonio Cossu; Paola Baldinu; Maria Colombino; Maria P Satta; Francesco Tanda; Maria Luigia De Bonis; Andrea Cerase; Michele D'Urso; Maurizio D'Esposito; Giuseppe Palmieri
High-resolution methylation analysis of the hMLH1 promoter in sporadic endometrial and colorectal carcinomas.
Cancer 2003;98(7):1540-6.
2003: Diego Ingrosso; Amelia Cimmino; Alessandra F Perna; Lucia Masella; Natale G De Santo; Maria Luigia De Bonis; Marcella Vacca; Maurizio D'Esposito; Michele D'Urso; Patrizia Galletti; Vincenzo Zappia
Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia.
Lancet 2003;361(9370):1693-9.
2003: Ida Annunziata; Carmela Lanzara; Ivan Conte; Alberto Zullo; Valerio Ventruto; Maria Michela Rinaldi; Michele D'Urso; Giorgio Casari; Alfredo Ciccodicola; Maria Giuseppina Miano
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
American journal of medical genetics. Part A 2003;118A(3):217-22.
2003: Tiziana Bardaro; Geppino Falco; Angela Sparago; Vincenzo Mercadante; Esther Gean Molins; Enrico Tarantino; Matilde Valeria Ursini; Michele D'Urso
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.
Human mutation 2003;21(1):8-11.
2002: Maria Rosaria Matarazzo; Maria Luigia De Bonis; Richard I Gregory; Marcella Vacca; R Scott Hansen; Grazia Mercadante; Michele D'Urso; Robert Feil; Maurizio D'Esposito
Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes.
Human molecular genetics 2002;11(25):3191-8.
2002: Anna Curci; Immacolata Capasso; A Romano; Paola Bruni; Maria Letizia Motti; Sandro Pignata; Giuseppe D'Aiuto; Amelia Casamassimi; Michele D'Urso; Alfredo Fusco; Giuseppe Viglietto
Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.
International journal of oncology 2002;20(5):963-70.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: Raffaele Ambrosio; Giorgia Fimiani; Jlenia Monfregola; Emma Sanzari; Nicola De Felice; Mariacarolina Salerno; Claudio Pignata; Michele D'Urso; Matilde Valeria Ursini
The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.
Gene 2002;285(1-2):311-8.
2002: Minna Nyström-Lahti; Claudia Perrera; Markus Räschle; Elena Panyushkina-Seiler; Giancarlo Marra; Anna Curci; Barbara Quaresima; Francesco Costanzo; Michele D'Urso; Salvatore Venuta; Josef Jiricny
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
Genes, chromosomes & cancer 2002;33(2):160-7.
2002: Swaroop Aradhya; Hayley Woffendin; Penelope E Bonnen; Nina S Heiss; Takanori Yamagata; Teresa Esposito; Tiziana Bardaro; Annemarie Poustka; Michele D'Urso; Sue Kenwrick; David L Nelson
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.
Genomics 2002;79(1):31-40.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Floriana Della Ragione; Maria Luigia De Bonis; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj Hulten
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Brain & development 2001;23 Suppl 1():S246-50.
2001: Fernando Gianfrancesco; R Sanges; Teresa Esposito; Sergio Tempesta; Ercole Rao; G Rappold; Nicoletta Archidiacono; J A Graves; Antonino Forabosco; Michele D'Urso
Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.
Genome research 2001;11(12):2095-100.
2001: Sue Kenwrick; Hayley Woffendin; Tracy J Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; Tiziana Bardaro; Teresa Esposito; Michele D'Urso; F Soli; A Turco; Asma Smahi; Dominique Hamel-Teillac; Stanislas LYONNET; Jean-Paul Bonnefont; Arnold Munnich; Swaroop Aradhya; C D Kashork; Lisa Shaffer; David L Nelson; M Levy; R A Lewis
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
American journal of human genetics 2001;69(6):1210-7.
2001: Swaroop Aradhya; Tiziana Bardaro; P Galgóczy; Takanori Yamagata; Teresa Esposito; H Patlan; Alfredo Ciccodicola; Arnold Munnich; Sue Kenwrick; Matthias Platzer; Michele D'Urso; David L Nelson
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.
Human molecular genetics 2001;10(22):2557-67.
2001: Swaroop Aradhya; Hayley Woffendin; Tracy J Jakins; Tiziana Bardaro; Teresa Esposito; Asma Smahi; Chad Shaw; M Levy; Arnold Munnich; Michele D'Urso; R A Lewis; Sue Kenwrick; David L Nelson
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Human molecular genetics 2001;10(19):2171-9.
2001: Maria Giuseppina Miano; Francesco Testa; Francesco Filippini; M Trujillo; Ivan Conte; C Lanzara; J M Millán; Carmelilia De Bernardo; Barbara Grammatico; Massimo Mangino; Isabella Torrente; R Carrozzo; Francesca Simonelli; Ernesto Rinaldi; Valerio Ventruto; Michele D'Urso; C Ayuso; Alfredo Ciccodicola
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Human mutation 2001;18(2):109-19.
2001: Francesco Filippini; Valeria Rossi; Thierry Galli; A Budillon; Michele D'Urso; Maurizio D'Esposito
Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain.
Trends in biochemical sciences 2001;26(7):407-9.
2001: Fernando Gianfrancesco; Geppino Falco; Teresa Esposito; Mariano Rocchi; Michele D'Urso
Characterization of the murine orthologue of a novel human subtelomeric multigene family.
Cytogenetics and cell genetics 2001;94(1-2):98-100.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj A Hultén
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Journal of molecular medicine (Berlin, Germany) 2001;78(11):648-55.
2000: Swaroop Aradhya; P Ahobila; R A Lewis; David L Nelson; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Hayley Woffendin; Sue Kenwrick; Asma Smahi; Solange Heuertz; Arnold Munnich; Nina S Heiss; Annemarie Poustka; Athar H Chishti
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
American journal of medical genetics 2000;94(1):79-84.
2000: G Palmieri; Vittorio de Franciscis; Amelia Casamassimi; G Romano; A Torino; P Pingitore; Daniela Califano; Giovanni Santelli; A Eva; Giancarlo Vecchio; Michele D'Urso; Alfredo Ciccodicola
Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site.
Gene 2000;253(1):107-15.
2000: Asma Smahi; Gilles Courtois; Pierre VABRES; Shoji Yamaoka; Solange Heuertz; Arnold Munnich; Alain Israël; Nina S Heiss; Sabine M Klauck; Petra Kioschis; S Wiemann; Annemarie Poustka; Teresa Esposito; Tiziana Bardaro; Fernando Gianfrancesco; Alfredo Ciccodicola; Michele D'Urso; Hayley Woffendin; Tracy J Jakins; Dian Donnai; H Stewart; Sue Kenwrick; Swaroop Aradhya; Takanori Yamagata; M Levy; R A Lewis; David L Nelson
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Nature 2000;405(6785):466-72.
2000: Giuseppe Di Iorio; V Cappa; Alfredo Ciccodicola; Simone Sampaolo; Angelo Ammendola; G Sanges; R Giugliano; Michele D'Urso
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(2):109-12.
2000: Swaroop Aradhya; David L Nelson; Nina S Heiss; Annemarie Poustka; Hayley Woffendin; Sue Kenwrick; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Asma Smahi; Arnold Munnich; G E Herman; Richard Alan Lewis
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
American journal of medical genetics 2000;91(3):241-4.
2000: Francesca Simonelli; Francesco Testa; giuseppe de crecchio; Ernesto Rinaldi; A Hutchinson; A Atkinson; M Dean; Michele D'Urso; Rando Allikmets
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
Investigative ophthalmology & visual science 2000;41(3):892-7.
2000: Alfredo Ciccodicola; Maurizio D'Esposito; Teresa Esposito; Fernando Gianfrancesco; Carmen Migliaccio; Maria Giuseppina Miano; Maria Rosaria Matarazzo; Marcella Vacca; Annamaria Franzè; M Cuccurese; Massimo Cocchia; Anna Curci; Antonio Terracciano; A Torino; S Cocchia; Grazia Mercadante; E Pannone; Nicoletta Archidiacono; Mariano Rocchi; David Schlessinger; Michele D'Urso
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
Human molecular genetics 2000;9(3):395-401.
1999: Marcella Vacca; Maria Rosaria Matarazzo; J Jones; Cosma Spalluto; Nicoletta Archidiacono; P Ma; Mariano Rocchi; Michele D'Urso; E Y Chen; Maurizio D'Esposito; Steven Mumm
Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region.
Genomics 1999;62(2):293-6.
1999: Daniele De Brasi; Teresa Esposito; Massimiliano Rossi; Giancarlo Parenti; Maria Pia Sperandeo; Alfredo Zuppaldi; Tiziana Bardaro; M A Ambruzzi; L Zelante; Alfredo Ciccodicola; Gianfranco Sebastio; Michele D'Urso; Generoso Andria
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
European journal of human genetics : EJHG 1999;7(8):937-40.
1999: Maria Rosaria Matarazzo; M Cuccurese; Maria Strazzullo; Marcella Vacca; Anna Curci; Maria Giuseppina Miano; Massimo Cocchia; Grazia Mercadante; A Torino; Michele D'Urso; Alfredo Ciccodicola; Maurizio D'Esposito
Human and mouse SYBL1 gene structure and expression.
Gene 1999;240(1):233-8.
1999: Nina S Heiss; Annemarie Poustka; Stuart W Knight; Swaroop Aradhya; David L Nelson; R A Lewis; Teresa Esposito; Alfredo Ciccodicola; Michele D'Urso; Asma Smahi; Solange Heuertz; Arnold Munnich; Pierre VABRES; Hayley Woffendin; Sue Kenwrick
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Journal of medical genetics 1999;36(11):860-2.
1999: Maria Giuseppina Miano; Francesco Testa; Maria Strazzullo; M Trujillo; Carmelilia De Bernardo; Barbara Grammatico; Francesca Simonelli; Massimo Mangino; Isabella Torrente; G Ruberto; M Beneyto; G Antinolo; Ernesto Rinaldi; C Danesino; Valerio Ventruto; Michele D'Urso; C Ayuso; Montserrat Baiget; Alfredo Ciccodicola
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
European journal of human genetics : EJHG 1999;7(6):687-94.
1999: Reid Huber; R Scott Hansen; Maria Strazzullo; G Pengue; R Mazzarella; Michele D'Urso; David Schlessinger; Giuseppe Pilia; Stanley M Gartler; Maurizio D'Esposito
DNA methylation in transcriptional repression of two differentially expressed X-linked genes, GPC3 and SYBL1.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(2):616-21.
1999: Fernando Gianfrancesco; Teresa Esposito; Alfredo Ciccodicola; Maurizio D'Esposito; R Mazzarella; Michele D'Urso; Antonino Forabosco
Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene.
Cytogenetics and cell genetics 1999;84(3-4):164-6.
1999: Teresa Esposito; Fernando Gianfrancesco; Alfredo Ciccodicola; L Montanini; Steven Mumm; Michele D'Urso; Antonino Forabosco
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases.
Human molecular genetics 1999;8(1):61-7.
1998: Stuart W Knight; Tom Vulliamy; Nina S Heiss; G Matthijs; koenraad devriendt; J M Connor; Michele D'Urso; Annemarie Poustka; Philip J Mason; Inderjeet Dokal
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
Journal of medical genetics 1998;35(12):993-6.
1998: giuseppe de crecchio; Francesca Simonelli; G Nunziata; Salvatore Mazzeo; GM Greco; Ernesto Rinaldi; Valerio Ventruto; Alfredo Ciccodicola; Maria Giuseppina Miano; Francesco Testa; Anna Curci; Michele D'Urso; Maria Michela Rinaldi; Maria Luigia Cavaliere; P Castelluccio
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
Clinical genetics 1998;54(4):315-20.
1998: Ramaiah Nagaraja; Sandra MacMillan; C Jones; M Masisi; G Pengue; G Porta; S Miao; Amelia Casamassimi; Michele D'Urso; Bernard H Brownstein; David Schlessinger
Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24-q26 at 56-kb inter-STS resolution.
Genomics 1998;52(3):247-66.
1998: Francesca Simonelli; M Rinaldi; Anna Nesti; Francesco Testa; Ernesto Rinaldi; Alfredo Ciccodicola; L Flagiello; Maria Giuseppina Miano; Valerio Ventruto; Michele D'Urso
Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.
The British journal of ophthalmology 1998;82(6):709.
1998: Birgit Lorenz; Carmen Migliaccio; Peter Lichtner; C Meyer; Tim M Strom; Michele D'Urso; J Becker; Alfredo Ciccodicola; Thomas Meitinger
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
European journal of human genetics : EJHG 1998;6(3):283-90.
1998: L Flagiello; V Cirigliano; Maria Strazzullo; V Cappa; Alfredo Ciccodicola; Maurizio D'Esposito; Isabella Torrente; R Werner; Giuseppe Di Iorio; M Rinaldi; A Dallapiccola; Antonino Forabosco; Valerio Ventruto; Michele D'Urso
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.
Human mutation 1998;12(5):361.
1998: Maria Giuseppina Miano; Diana Valverde; T Solans; Barbara Grammatico; Carmen Migliaccio; V Cirigliano; C DeBernardo; Valerio Ventruto; Thomas Meitinger; A Wright; G Del Porto; Montserrat Baiget; Michele D'Urso; Alfredo Ciccodicola
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Human mutation 1998;12(3):212-3.
1998: Maurizio D'Esposito; Maria Strazzullo; M Cuccurese; Cosma Spalluto; Mariano Rocchi; Michele D'Urso; Alfredo Ciccodicola
Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-->q22.
Cytogenetics and cell genetics 1998;83(1-2):46-7.
1998: Daniel Geschwind; Jeffrey P Gregg; Kyle Brauer Boone; J Karrim; Anna Pawlikowska-Haddal; Ercole Rao; J Ellison; Alfredo Ciccodicola; Michele D'Urso; R Woods; G A Rappold; Ronald S Swerdloff; Stanley F Nelson
Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.
Developmental genetics 1998;23(3):215-29.
1997: Simon E Fisher; Alfredo Ciccodicola; K Tanaka; Anna Curci; S Desicato; Michele D'Urso; IW Craig
Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
Genomics 1997;45(2):340-7.
1997: Maurizio D'Esposito; Maria Rosaria Matarazzo; Alfredo Ciccodicola; Maria Strazzullo; R Mazzarella; N A Quaderi; H Fujiwara; Minoru S H Ko; L B Rowe; AS Ricco; Nicoletta Archidiacono; Mariano Rocchi; David Schlessinger; Michele D'Urso
Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region.
Human molecular genetics 1997;6(11):1917-23.
1997: Teresa Esposito; Fernando Gianfrancesco; Alfredo Ciccodicola; Maurizio D'Esposito; Ramaiah Nagaraja; R Mazzarella; Michele D'Urso; Antonino Forabosco
Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E.
Genomics 1997;43(2):183-90.
1997: G Palmieri; Maria Giuseppina Miano; Amelia Casamassimi; A Lania; K Kohno; David Schlessinger; Michele D'Urso; T Featherstone
Construction of a pilot human YAC library in a recombination-defective yeast strain.
Gene 1997;188(2):169-74.
1997: Teresa Esposito; Alfredo Ciccodicola; L Flagiello; Maria Rosaria Matarazzo; Carmen Migliaccio; R A Cifarelli; R Visone; C Campanile; R Mazzarella; David Schlessinger; Michele D'Urso; Maurizio D'Esposito
Expressed STSs and transcription of human Xq28.
Gene 1997;187(2):185-91.
1997: Fernando Gianfrancesco; Teresa Esposito; L Ruini; Rémi Houlgatte; Ramaiah Nagaraja; Maurizio D'Esposito; Mariano Rocchi; Charles Auffray; David Schlessinger; Michele D'Urso; Antonino Forabosco
Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.
Gene 1997;187(2):179-84.
1997: Ramaiah Nagaraja; Sandra MacMillan; J Kere; C Jones; S Griffin; M Schmatz; J Terrell; M Shomaker; C Jermak; Christian T Hott; M Masisi; Steven Mumm; A Srivastava; Giuseppe Pilia; T Featherstone; R Mazzarella; S Kesterson; B McCauley; B Railey; F Burough; volker nowotny; Michele D'Urso; David States; Bernard H Brownstein; David Schlessinger
X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.
Genome research 1997;7(3):210-22.
1996: Maurizio D'Esposito; N A Quaderi; Alfredo Ciccodicola; P Bruni; Teresa Esposito; Michele D'Urso; Steve D M Brown
Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(7):533-5.
1996: Maurizio D'Esposito; Alfredo Ciccodicola; Fernando Gianfrancesco; Teresa Esposito; L Flagiello; R Mazzarella; David Schlessinger; Michele D'Urso
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation.
Nature genetics 1996;13(2):227-9.
1996: E Y Chen; Massimo Zollo; R Mazzarella; Alfredo Ciccodicola; C N Chen; L Zuo; C Heiner; F Burough; M Repetto; David Schlessinger; Michele D'Urso
Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
Human molecular genetics 1996;5(5):659-68.
1996: Alfons Meindl; K Dry; K Herrmann; F Manson; Alfredo Ciccodicola; A Edgar; M R Carvalho; H Achatz; Heide Hellebrand; A Lennon; Carmen Migliaccio; K Porter; Eberhart Zrenner; A Bird; MR Jay; B Lorenz; B Wittwer; Michele D'Urso; Thomas Meitinger; A Wright
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Nature genetics 1996;13(1):35-42.
1995: N A Quaderi; Fernando Gianfrancesco; Steve D M Brown; Michele D'Urso; Maurizio D'Esposito
Genetic mapping of a gene encoding an atypical protein kinase C, protein kinase C lambda, to the proximal region of mouse chromosome 3.
Genomics 1995;29(3):815-6.
1995: Vincenzo Nigro; P Bruni; Alfredo Ciccodicola; Luisa Politano; Ge Nigro; Giulio Piluso; V Cappa; A E Covone; G Romeo; Michele D'Urso
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
Human molecular genetics 1995;4(10):2003-4.
1995: Silvia Bione; K Small; V M Aksmanovic; Michele D'Urso; Alfredo Ciccodicola; Luciano Merlini; Lucia Morandi; W Kress; J R Yates; Stephen Warren
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
Human molecular genetics 1995;4(10):1859-63.
1995: R Mazzarella; Alfredo Ciccodicola; Teresa Esposito; A Arcucci; Carmen Migliaccio; C Jones; David Schlessinger; Michele D'Urso; Maurizio D'Esposito
Human protein kinase C Iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3.
Genomics 1995;26(3):629-31.
1995: Massimo Zollo; R Mazzarella; Silvia Bione; Daniela Toniolo; David Schlessinger; Michele D'Urso; E Y Chen
Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28.
DNA sequence : the journal of DNA sequencing and mapping 1995;6(1):1-11.
1994: Maurizio D'Esposito; R Mazzarella; G Pengue; C Jones; Michele D'Urso; David Schlessinger
PCR-based immortalization and screening of hierarchical pools of cDNAs.
Nucleic acids research 1994;22(22):4806-9.
1993: G Pengue; V Calabrò; P Cannada-Bartoli; P De Luca; Teresa Esposito; P Taillon-Miller; S LaForgia; Teresa Druck; Kay Huebner; Michele D'Urso
YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region.
Human molecular genetics 1993;2(6):791-6.
1993: G Palmieri; G Romano; Amelia Casamassimi; Michele D'Urso; R D Little; fatima abidi; David Schlessinger; M Lagerström; H Malmgren; M L Steen-Bondeson
1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones.
Genomics 1993;16(3):586-92.
1993: Christoph Lengauer; Michael R Speicher; S Popp; Anna Jauch; M Taniwaki; Ramaiah Nagaraja; H C Riethman; H Donis-Keller; Michele D'Urso; David Schlessinger
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.
Human molecular genetics 1993;2(5):505-12.
1993: G Porta; Ileana Zucchi; L Hillier; P Green; volker nowotny; Michele D'Urso; David Schlessinger
Alu and L1 sequence distributions in Xq24-q28 and their comparative utility in YAC contig assembly and verification.
Genomics 1993;16(2):417-25.
1993: Massimo Zollo; Michele D'Urso; David Schlessinger; E Y Chen
Sequence of mouse glucose-6-phosphate dehydrogenase cDNA.
DNA sequence : the journal of DNA sequencing and mapping 1993;3(5):319-22.
1992: N Malgaretti; Francesco Acquati; P Magnaghi; L Bruno; M Pontoglio; M Rocchi; Salvatore Saccone; G Della Valle; Michele D'Urso; D LePaslier
Characterization by yeast artificial chromosome cloning of the linked apolipoprotein(a) and plasminogen genes and identification of the apolipoprotein(a) 5' flanking region.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(23):11584-8.
1992: Juha Kere; Ramaiah Nagaraja; Steven Mumm; Alfredo Ciccodicola; Michele D'Urso; David Schlessinger
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts.
Genomics 1992;14(2):241-8.
1992: E Maestrini; F Tamanini; Petra Kioschis; E Gimbo; P Marinelli; C Tribioli; Michele D'Urso; G Palmieri; A Poustka; Daniela Toniolo
An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome.
Human molecular genetics 1992;1(4):275-80.
1992: R Mazzarella; V Montanaro; Juha Kere; R Reinbold; Alfredo Ciccodicola; Michele D'Urso; David Schlessinger
Conserved sequence-tagged sites: a phylogenetic approach to genome mapping.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(9):3681-5.
1992: G Palmieri; V Capra; G Romano; Michele D'Urso; S Johnson; David Schlessinger; P Morris; J Hopwood; P Di Natale; R Gatti; A Ballabio
The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.
Genomics 1992;12(1):52-7.
1992: R D Little; Giuseppe Pilia; S Johnson; Michele D'Urso; David Schlessinger
Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(1):177-81.
1991: David Schlessinger; R D Little; D Freije; fatima abidi; Ileana Zucchi; G Porta; Giuseppe Pilia; Ramaiah Nagaraja; S K Johnson; J Y Yoon; A Srivastava; Juha Kere; G Palmieri; Alfredo Ciccodicola; V Montanaro; G Romano; Amelia Casamassimi; Michele D'Urso
Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28.
Genomics 1991;11(4):783-93.
1991: E Y Chen; A Cheng; A Lee; W J Kuang; L Hillier; P Green; David Schlessinger; Alfredo Ciccodicola; Michele D'Urso
Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.
Genomics 1991;10(3):792-800.
1991: B Eliceiri; T Labella; Y Hagino; A Srivastava; David Schlessinger; Giuseppe Pilia; G Palmieri; Michele D'Urso
Stable integration and expression in mouse cells of yeast artificial chromosomes harboring human genes.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(6):2179-83.
1991: V Montanaro; Amelia Casamassimi; Michele D'Urso; J Y Yoon; W Freije; David Schlessinger; M Muenke; Robert L Nussbaum; Salvatore Saccone; S Maugeri
In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA.
American journal of human genetics 1991;48(2):183-94.
1990: Michele D'Urso; Ileana Zucchi; Alfredo Ciccodicola; G Palmieri; fatima abidi; David Schlessinger
Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells.
Genomics 1990;7(4):531-4.
1990: Giuseppe Viglietto; V Montanaro; V Calabrò; D Vallone; Michele D'Urso; M G Persico; G Battistuzzi
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization.
Annals of human genetics 1990;54(Pt 1):1-15.
1990: M Wada; R D Little; fatima abidi; G Porta; T Labella; T Cooper; G Della Valle; Michele D'Urso; David Schlessinger
Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.
American journal of human genetics 1990;46(1):95-106.
1989: R D Little; G Porta; G F Carle; David Schlessinger; Michele D'Urso
Yeast artificial chromosomes with 200- to 800-kilobase inserts of human DNA containing HLA, V kappa, 5S, and Xq24-Xq28 sequences.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(5):1598-602.
1988: Tom Vulliamy; Michele D'Urso; G Battistuzzi; M Estrada; N S Foulkes; G Martini; V Calabro; V Poggi; R Giordano; M Town
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(14):5171-5.
1988: Michele D'Urso; L Luzzatto; L Perroni; Alfredo Ciccodicola; G Gentile; I Peluso; M G Persico; T Pizzella; Daniela Toniolo; T J Vulliamy
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.
American journal of human genetics 1988;42(5):735-41.
1988: D C Braaten; J R Thomas; R D Little; K R Dickson; I Goldberg; David Schlessinger; Alfredo Ciccodicola; Michele D'Urso
Locations and contexts of sequences that hybridize to poly(dG-dT).(dC-dA) in mammalian ribosomal DNAs and two X-linked genes.
Nucleic acids research 1988;16(3):865-81.
1986: G Martini; Daniela Toniolo; T Vulliamy; L Luzzatto; R Dono; Giuseppe Viglietto; G Paonessa; Michele D'Urso; M G Persico
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.
The EMBO journal 1986;5(8):1849-55.
1986: M G Persico; Giuseppe Viglietto; G Martini; Daniela Toniolo; G Paonessa; C Moscatelli; R Dono; T Vulliamy; L Luzzatto; Michele D'Urso
Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.
Nucleic acids research 1986;14(6):2511-22.
1985: G Battistuzzi; Michele D'Urso; Daniela Toniolo; G M Persico; L Luzzatto
Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3' end of the gene.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(5):1465-9.
1984: Daniela Toniolo; Michele D'Urso; G Martini; M Persico; V Tufano; G Battistuzzi; L Luzzatto
Specific methylation pattern at the 3' end of the human housekeeping gene for glucose 6-phosphate dehydrogenase.
The EMBO journal 1984;3(9):1987-95.
1981: M G Persico; Daniela Toniolo; C Nobile; Michele D'Urso; L Luzzatto
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322.
Nature 1981;294(5843):778-80.
1980: Michele D'Urso; G Battistuzzi; L Luzzatto
Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase: automated procedure for characterization by column chromatography.
Analytical biochemistry 1980;108(1):146-50.