Výsledky vyhledávání - "Francesca Peluso"

Akademický článek

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Autor: Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

Publikováno v: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)

Abstract Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB,

Externí odkaz: https://doaj.org/article/a4f93a71a1704f7bae04c376b874ef42

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Akademický článek

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Autor: Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi

Publikováno v: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

Abstract Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasa

Externí odkaz: https://doaj.org/article/8828fe3836ef4d7ea279a9acbd9be95d

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Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

Autor: Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, Giacomo M. Bacci

Publikováno v: Ophthalmic Genetics. 44:152-162

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::73b7bf9e7ec14baed3b5164d28514b1f
https://doi.org/10.1080/13816810.2022.2132514

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Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

Autor: Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti‐Furga, Livia Garavelli, Edoardo Errichiello

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e07fdd79a5941f066b45eb93092de985
https://hdl.handle.net/11379/573905

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Akademický článek

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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Autor: Gabriele Trimarchi, Giancarlo Gargano, Katarina Cisarova, Belinda Campos-Xavier, Livia Garavelli, Sara Gavioli, Francesca Peluso, Stefano Giuseppe Caraffi, Andrea Superti-Furga, Lara Valeri, Alberto Neri

Publikováno v: American Journal of Medical Genetics Part A. 188:319-325

Cranio-lenticulo-sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1-9 and Boyadjiev et al., Nature Genetics, 2006, 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23ae03407a0e7a4e6cdd50131ac24042
https://doi.org/10.1002/ajmg.a.62506

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Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Publikováno v: Genes
Volume 14
Issue 3
Pages: 549

Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243b41e36823455d0704b58a143fa298
https://doi.org/10.3390/genes14030549

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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Autor: Elena Procopio, Sabrina Giglio, Viviana Palazzo, Filippo M. Santorelli, Roberta Pasqualetti, Renzo Guerrini, Giuseppe Indolfi, Francesca Peluso, Claudia Nesti, Francesco Mari

Publikováno v: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
BMC Medical Genomics

Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b21ca69f4c90bd300e691f47fb5ae3
https://doi.org/10.1186/s12920-020-00863-1

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Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females

Autor: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo

Publikováno v: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6

Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 variants ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8
http://hdl.handle.net/10230/49030

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