Výsledky vyhledávání - "Angela Spalletta"

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Autor: Michele Falco, Angelo Gloria, S. Amata, Lucia Grillo, Maria Piccione, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Vincenzo Antona, Ornella Galesi, Lucia Castiglia, Girolamo Aurelio Vitello, Michele Salemi, Mirella Vinci

Publikováno v: Genes & Genomics. 38:1159-1164

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28490319301bc315aa88659e7e9ac14
https://doi.org/10.1007/s13258-016-0460-0

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Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Autor: Daniela Di Benedetto, Emanuela Avola, Ornella Galesi, Carmela Scuderi, Mariangela Lo Giudice, Sebastiano Bianca, Antonino Alberti, Mirella Vinci, Lucia Grillo, Sebastiano A. Musumeci, Marco Fichera, Angela Spalletta, Corrado Romano, Daniela Luciano, Serafino Buono

Publikováno v: American Journal of Medical Genetics Part A. 164:1923-1930

Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the GRIA3 and STAG2 genes have been reported. These Xq25 microduplications are associated wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfd343f59307caa63ceb20045efa29b
https://doi.org/10.1002/ajmg.a.36570

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Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Autor: Nabor Potenza, Marco Fichera, Corrado Romano, S. Amata, Lucia Grillo, Angela Spalletta, Donatella Greco, Emanuela Avola, Daniela Di Benedetto, Daniela Luciano, Rosa Pettinato, Lucia Castiglia

Publikováno v: Gene. 534:435-439

Interstitial duplications involving chromosome 11q have rarely been reported in the literature and mainly represent large, cytogenetically detectable rearrangements associated with a wide and variable spectrum of neurodevelopmental disorders. We repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a4efb4e8d27e6002c317a965b52f62
https://doi.org/10.1016/j.gene.2013.09.120

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Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

Autor: S. Amata, Corrado Romano, Concetta Barone, Michele Falco, Marco Fichera, Angela Spalletta, Santina Reitano, G. Belfiore, M. Bottitta, Lucia Grillo

Publikováno v: European Journal of Medical Genetics. 53:113-116

We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd7c5e890cc8acb9fb05e0a7d6fd02f
https://doi.org/10.1016/j.ejmg.2010.01.001

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1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features

Autor: Angela Spalletta, Ornella Galesi, Corrado Romano, D. Di Benedetto, Francesco Calì, Antonino Alberti, P. Schinocca, Marco Fichera, Michele Falco

Publikováno v: Clinical Genetics. 71:177-182

The 22q11.2 microduplication syndrome is caused by non-allelic homologous recombination mediated by misalignments of low copy repeats located in the region deleted in the DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). The variable phenotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd791cea40c16a3ef93005516ed294bc
https://doi.org/10.1111/j.1399-0004.2007.00750.x

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Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome

Autor: Angela Ragusa, Angela Spalletta, Ornella Galesi, Lucia Castiglia, Eugenia Borgione, Maurizio Sturnio, Marco Fichera, Maria Angela Lo Giudice

Publikováno v: Human Mutation. 21:529-534

Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d49ebc4da627710c13c963cd44910c6
https://doi.org/10.1002/humu.10183

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Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Autor: Marco Fichera, Rita Barone, Angela Spalletta, Mariaclara De Grandi, Valerio Fiore, Ignazio Morana, T Maniscalchi, Salvatore Santo Signorelli, Lucia Grillo, Mirella Vinci, S. Amata, Giovanni Sorge

Publikováno v: Molecular Cytogenetics

Background Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, const

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42e26b7025a4351b8bf3934446624c0
http://europepmc.org/articles/PMC4276019

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CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Autor: Sebastiano A. Musumeci, M. Bottitta, M. Lo Giudice, Raffaele Ferri, Marco Fichera, Marco Carotenuto, Michele Falco, Giuseppe Calabrese, Maurizio Elia, Angela Spalletta

Publikováno v: Neurology. 71(13)

Objective: To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. Methods: Eight boys (age range

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd4058ebe82b8bbdff7a0806ff2d245e
https://pubmed.ncbi.nlm.nih.gov/19564592

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Denaturing HPLC-based assay for detection of ATRX gene mutations

Autor: Michele Falco, Corrado Romano, Daniela Luciano, Domenico Scionti, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Mariangela Lo Giudice

In 2003, we described (1) a broad-range denaturing gradient gel electrophoresis method for mutation scanning of the entire open reading frame and canonical splice sites of the ATRX gene (OMIM 300032), a zinc finger transcriptional regulator undergoin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee0634ce91af7f2450275b3bef984f35
http://hdl.handle.net/20.500.11769/45167

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Prenatal diagnosis of ATR-X syndrome in a fetus with a new GT splicing mutation in the XNP/ATR-X gene

Autor: Corrado Romano, Mariangela Lo Giudice, Angela Spalletta, Angela Ragusa, Marco Fichera, Margherita Silengo

Publikováno v: Prenatal diagnosis. 21(9)

The molecular cause of the α-thalassemia/mental retardation syndrome (ATR-X) resides in mutations affecting the XNP/ATR-X gene. Recently molecular defects in the gene have been found in singular cases of a discrete number of X-linked mental retardat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59d666d2800e16656c2d8302b4b3747
https://pubmed.ncbi.nlm.nih.gov/11559911

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