Výsledky vyhledávání - "Roberta Pietrobono"

Mother and Daughter Carrying of the Same Pathogenic Variant in

Autor: Filomena, Lo Vecchio, Elisabetta, Tabolacci, Veronica, Nobile, Maria Grazia, Pomponi, Roberta, Pietrobono, Giovanni, Neri, Simona, Amenta, Ettore, Candida, Cristina, Grippaudo, Ettore, Lo Cascio, Alessia, Vita, Federica, Tiberio, Alessandro, Arcovito, Wanda, Lattanzi, Maurizio, Genuardi, Pietro, Chiurazzi

Publikováno v: Genes. 13(7)

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various add

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f75d85308b250c20b16399deb8440f68
https://pubmed.ncbi.nlm.nih.gov/35885943

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Autor: Cecilia Pucci, Giovanni Neri, Daniela Orteschi, Roberta Pietrobono, Marika Pane, Marcella Zollino, Veronica Nobile, Laura Remondini, Elisa Musto, Eugenio Mercuri, Maria Grazia Pomponi, Pietro Chiurazzi, Maurizio Genuardi, Elisabetta Tabolacci

Publikováno v: Genes
Genes; Volume 12; Issue 12; Pages: 1909
Genes, Vol 12, Iss 1909, p 1909 (2021)

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b66f285d8f45173123f62c11e9ce385
http://europepmc.org/articles/PMC8701878

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Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Autor: Filomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri, Simona Amenta, Ettore Candida, Cristina Grippaudo, Ettore Lo Cascio, Alessia Vita, Federica Tiberio, Alessandro Arcovito, Wanda Lattanzi, Maurizio Genuardi, Pietro Chiurazzi

Publikováno v: Genes; Volume 13; Issue 7; Pages: 1161

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2d3e38eaa4b70654e4c8b3b294ec1f
https://doi.org/10.3390/genes13071161

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Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Autor: Pietro Chiurazzi, Maurizio Genuardi, Elisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, Veronica Nobile, Giovanni Neri, Laura Remondini, Maria Grazia Pomponi, Matteo Della Monica

Publikováno v: Genes
Volume 11
Issue 3
Genes, Vol 11, Iss 3, p 248 (2020)

Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5' UTR of the FMR1 gene. Full mutation alleles (FM) have more than 200 repeats and result in FMR1 gene silencing and FXS. FMs arise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7c26f16cce30d0866ef0718d2b9d4a2

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Reversion to Normal of

Autor: Elisabetta, Tabolacci, Roberta, Pietrobono, Giulia, Maneri, Laura, Remondini, Veronica, Nobile, Matteo, Della Monica, Maria Grazia, Pomponi, Maurizio, Genuardi, Giovanni, Neri, Pietro, Chiurazzi

Publikováno v: Genes

Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5’ UTR of the FMR1 gene. Full mutation alleles (FM) have more than 200 repeats and result in FMR1 gene silencing and FXS. FMs aris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ff81065fcb123c21a5fdea0e01b4f5a7
https://pubmed.ncbi.nlm.nih.gov/32111011

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

Autor: Roberta Pietrobono, Veronica Nobile, Maria Grazia Pomponi, Giovanni Neri, Laura Remondini, Elisabetta Tabolacci, Fiorella Gurrieri, Pietro Chiurazzi, Gaetana Pennacchio, Maurizio Genuardi

Publikováno v: Eur J Hum Genet

Fragile X syndrome (FXS) is a very frequent cause of inherited intellectual disability (ID) and autism. Most FXS patients have an expansion over 200 repeats of (CGG)(n) sequence (“full mutation” (FM)) located in the 5′UTR of the FMR1 gene, resu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b2eb1d2f06e7181155dd1460ed5f31b
http://hdl.handle.net/10807/147818

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue

Autor: Alessandro Vaisfeld, Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri

Publikováno v: American Journal of Medical Genetics Part A. 173:285-288

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da74451628232cb1ad4ea67e86bd82c0
https://doi.org/10.1002/ajmg.a.38003

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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Autor: Maurizio Genuardi, Eugenio Sangiorgi, Elena Verrecchia, Donato Rigante, Fiorella Gurrieri, Raffaele Manna, Ludovico Luca Sicignano, Clelia Molinario, Alessia Azzarà, Roberta Pietrobono

Publikováno v: Eur J Hum Genet

PFAPA is an autoinflammatory syndrome characterized by periodic fever, aphthous stomatitis, sterile pharingitis, and adenitis, with an onset usually before the age of five. While the condition is most commonly sporadic, a few cases are familial and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581408a2fc442fbdbd1e6ec68935a006
https://pubmed.ncbi.nlm.nih.gov/31053777

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Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions

Autor: Giovanni Neri, Roberta Pietrobono, Maria Grazia Pomponi, Maria Laura Ester Bianchi, Giulia Conte, Giorgio Tasca, Gabriella Silvestri, Marcella Masciullo, Massimo Santoro, Anna Modoni, Valentina Rizzo

Publikováno v: Journal of Neurology. 260:1245-1257

We assessed clinical, molecular and muscle histopathological features in five unrelated Italian DM1 patients carrying novel variant pathological expansions containing CCG interruptions within the 3'-end of the CTG array at the DMPK locus, detected by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05dc4b8dfcea853736b8c529a070e6be
https://doi.org/10.1007/s00415-012-6779-9

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The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story

Autor: G. Storniello, Emanuela Lucci-Cordisco, Maria Grazia Pomponi, Fiorella Gurrieri, Roberta Pietrobono, E. Silvestri, Giovanni Neri

Publikováno v: American Journal of Medical Genetics Part A. 155:145-148

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff959569c63b37c90522ba045dca5bd
https://doi.org/10.1002/ajmg.a.33586

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