Výsledky vyhledávání - "Gloria Negri"

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

Publikováno v: Human genetics (Berl., Internet) 138 (2019). doi:10.1007/s00439-019-01985-y
info:cnr-pdr/source/autori:Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C./titolo:Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders/doi:10.1007%2Fs00439-019-01985-y/rivista:Human genetics (Berl., Internet)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:138

Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b58bb8a4feb84f9d64f01e19f9ae2a
https://pubmed.ncbi.nlm.nih.gov/30806792

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From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Autor: Federica Tamburrino, Milena Crippa, Tommaso Pippucci, Gloria Negri, Emanuela Scarano, Daniela Rusconi, Palma Finelli, Anita Wischmeijer, Lidia Larizza, Laura Mazzanti, Maria Teresa Bonati, Manuela Priolo, Cristina Gervasini, Donatella Milani, Pamela Magini, Patrizia Colapietro

Publikováno v: Human Mutation. 37:175-183

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and intellectual disability. Causative mutations in CREBBP and EP300 genes have been id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077f5f9f89cc224c5fd8f25bf73278c9
https://doi.org/10.1002/humu.22922

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Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Autor: Lidia Larizza, Silvia Spena, Angelo Selicorni, Cristina Gervasini, Nursel Elcioglu, Patrizia Colapietro, Luigina Spaccini, A. Ficcadenti, F. Bedeschi, Gloria Negri, Donatella Milani, Alba Pilotta, Daniela Rusconi, G. Scarano, Cinzia Magnani

Publikováno v: Clinical Genetics. 88:431-440

The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cb005cbbc9515b80c399afa4444149ed
https://doi.org/10.1111/cge.12537

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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

Autor: Cristina Gervasini, Gloria Negri, L. Consonni, Daniela Rusconi, L. G. Caffi, M. Della Monica, Angelo Selicorni, Silvia Spena, C. Magnani, Donatella Milani, Palma Finelli, Lidia Larizza, F. Forzano, Gioacchino Scarano, Patrizia Colapietro

Publikováno v: Clinical Genetics. 87:148-154

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a61b753b047539ac4ac3aad9277b36a0
https://doi.org/10.1111/cge.12348

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Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

Autor: Barbara Crescenzi, Cristina Gervasini, Gloria Negri, Francesco Arcioni, Gianluca Barba, Cristina Mecucci, Lidia Larizza, Laura Fontana, Elisa Colombo

Publikováno v: British journal of haematology. 171(4)

Germline mutations of the U6 biogenesis 1 (USB1) gene underlie Poikiloderma with Neutropenia (PN), a rare autosomal recessive genodermatosis conferring an increased risk of myelodysplasia. Recent evidence highlights a key role of USB1 protein in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59b48c091729b79915422d8783507f0d
https://pubmed.ncbi.nlm.nih.gov/26306619

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Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype

Autor: Lidia Larizza, Daniele Castiglia, Elisa Colombo, Gaia Roversi, Giovanna Zambruno, Laura Fontana, Mauro Paradisi, Gloria Negri

Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities and cancer predispositi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::378a991a0556643e28cdcca07757883f
https://europepmc.org/articles/PMC4200430/

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