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Maria Giuseppina Miano

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Francesca Fusco; Maria Brigida Lioi; Maria Giuseppina Miano; Federico Napolitano; Mariateresa Paciolla; Alessandra Pescatore; Asma Smahi; Elodie Bal; Irene D'Addario; Matilde Valeria Ursini
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
Francesca Fusco; Rita Genesio; Julie Jones; Xu Li; Maria Brigida Lioi; Emily Chen; Anna Conti; Mariateresa Paciolla; Loredana Poeta; Matilde Valeria Ursini; Maria Giuseppina Miano
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
M Paciolla; R Boni; Francesca Fusco; A Pescatore; L Poeta; Matilde Valeria Ursini; Maria Brigida Lioi; Maria Giuseppina Miano
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis.

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All Publications

2012: Francesca Fusco; Maria Brigida Lioi; Maria Giuseppina Miano; Federico Napolitano; Mariateresa Paciolla; Alessandra Pescatore; Asma Smahi; Elodie Bal; Irene D'Addario; Matilde Valeria Ursini
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
Human molecular genetics 2012;21(6):1260-71.
2011: Francesca Fusco; Rita Genesio; Julie Jones; Xu Li; Maria Brigida Lioi; Emily Chen; Anna Conti; Mariateresa Paciolla; Loredana Poeta; Matilde Valeria Ursini; Maria Giuseppina Miano
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
Human reproduction (Oxford, England) 2011;26(11):3186-96.
2011: M Paciolla; R Boni; Francesca Fusco; A Pescatore; L Poeta; Matilde Valeria Ursini; Maria Brigida Lioi; Maria Giuseppina Miano
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis.
Human reproduction (Oxford, England) 2011;26(5):1191-201.
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.
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: 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: Francesca Fusco; Vincenzo Mercadante; Maria Giuseppina Miano; Matilde Valeria Ursini
Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.
Gene 2006;383():99-107.
2006: Rosanna Busiello; Giorgia Fimiani; Maria Giuseppina Miano; M Aricò; A Santoro; Matilde Valeria Ursini; Claudio Pignata
A91V perforin variation in healthy subjects and FHLH patients.
International journal of immunogenetics 2006;33(2):123-5.
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.
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.
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.
2002: Ivan Conte; Marta Lestingi; Anneke den Hollander; Maria Giuseppina Miano; Giovanna Alfano; Diego Circolo; Mariarosaria Pugliese; Francesco Testa; Francesca Simonelli; Ernesto Rinaldi; Montserrat Baiget; Sandro Banfi; Alfredo Ciccodicola
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Gene 2002;297(1-2):33-8.
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.
2000: Maria Giuseppina Miano; Samuel G Jacobson; Andrew D Carothers; Isabel M Hanson; Peter Teague; J Lovell; Artur Vahe Cideciyan; N Haider; Edwin M Stone; V C Sheffield; Alan F Wright
Pitfalls in homozygosity mapping.
American journal of human genetics 2000;67(5):1348-51.
2000: Raf Vervoort; Alan Lennon; A C Bird; Brian Tulloch; RA Axton; Maria Giuseppina Miano; A Meindl; Thomas Meitinger; Alfredo Ciccodicola; Alan F Wright
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Nature genetics 2000;25(4):462-6.
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: 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: 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: C Rozzo; Maurizio Fossarello; Grazia Galleri; Maria Giuseppina Miano; Alfredo Ciccodicola; Gabriella Sole; Mario Pirastu
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.
European journal of human genetics : EJHG 1999;7(5):574-8.
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: Amelia Casamassimi; Maria Giuseppina Miano; Antonio Porcellini; Gabriella De Vita; Filomena de Nigris; Mariastella Zannini; Roberto Di Lauro; Tommaso Russo; VE Avvedimento; Alfredo Fusco
p53 genes mutated in the DNA binding site or at a specific COOH-terminal site exert divergent effects on thyroid cell growth and differentiation.
Cancer research 1998;58(13):2888-94.
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: 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.
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.
1994: Alfredo Ciccodicola; C Cinti; Teresa Esposito; C Campanile; Amelia Casamassimi; Maria Giuseppina Miano; N M Maraldi; M Vitale; D Johnson; B Molini
Sequence-tagged sites (STSs) from YAC insert-ends and X-specific flow-sorted chromosomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(8):511-4.