Výsledky vyhledávání - "Anna Allegri"

Akademický článek

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

Autor: Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo

Publikováno v: Biomedicines, Vol 9, Iss 1, p 75 (2021)

The KCNA1 gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in KCNA1 have been classically associated with episodic ataxia

Externí odkaz: https://doaj.org/article/ded4ec25e9a24ae1978760d0ed01e163

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Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

Autor: Mariasavina Severino, Valeria Capra, Mohamad Maghnie, Anna Allegri, Marcello Scala, Elisa Tassano, Giovanni Morana, Andrea Accogli

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 32:95-99

Background The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3738371da3cecd1fa7d292b977b8a41d
https://doi.org/10.1515/jpem-2018-0272

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Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel

Autor: Maria Cristina D'Adamo, Paola Imbrici, Concetta Altamura, Stefano Gustincich, Chiara Fiorillo, Stella Vari, Anna Allegri, Matteo Cataldi, Noemi Brolatti, Federico Zara, Jean-François Desaphy, Michele Iacomino, Marina Pedemonte, Rikard Blunck, Andrea Accogli, Valeria Capra

Publikováno v: Biomedicines
Volume 9
Issue 1
Biomedicines, Vol 9, Iss 75, p 75 (2021)

The KCNA1 gene encodes the &alpha
subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in KCNA1 have been classically associated with episod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b3252a9594b2dbf5ecffd316e01324
http://hdl.handle.net/11567/1044535

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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in

Autor: Paola, Imbrici, Andrea, Accogli, Rikard, Blunck, Concetta, Altamura, Michele, Iacomino, Maria Cristina, D'adamo, Anna, Allegri, Marina, Pedemonte, Noemi, Brolatti, Stella, Vari, Matteo, Cataldi, Valeria, Capra, Stefano, Gustincich, Federico, Zara, Jean-Francois, Desaphy, Chiara, Fiorillo

Publikováno v: Biomedicines

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b1b37d40bf3f4aa003a65dae5793740f
https://pubmed.ncbi.nlm.nih.gov/33466780

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Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement

Autor: Maria Alice Donati, Margherita Protasoni, Claudio Bruno, Alan J. Robinson, Aurelio Reyes, Khadra Mohamoud, Anna Allegri, Mariasavina Severino, Massimo Zeviani, Caterina Garone

NUBPL (Nucleotide-binding protein like) protein encodes a member of the Mrp/NBP35 ATP-binding proteins family, deemed to be involved in mammalian complex I (CI) assembly process. Exome sequencing of a patient presenting with infantile-onset hepatopat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86011e2bc46fec57d39167dafb42221
http://hdl.handle.net/11585/715866

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Reliability of clonidine testing for the diagnosis of growth hormone deficiency in children and adolescents

Autor: Chiara Guzzetti, Sandro Loche, Mariacarolina Salerno, Anastasia Ibba, Anna Allegri, Marco Cappa, Mohamad Maghnie, Natascia Di Iorgi, Letizia Casula

Publikováno v: Clinical Endocrinology. 89:765-770

OBJECTIVE: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d688c6175e651cb55311047dba86029
https://doi.org/10.1111/cen.13845

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Accuracy and limitations of the growth hormone (GH) releasing hormone-arginine retesting in young adults with childhood-onset GH deficiency

Autor: Flavia Napoli, Anna Allegri, Serena Noli, Annalisa Gallizia, Elena Tornari, Mariacarolina Salerno, Donatella Capalbo, Sandro Loche, Natascia Di Iorgi, Giuseppa Patti, Stefano Parodi, Anastasia Ibba, Maria Luisa Garrè, Grazia Maria Ubertini, Marco Crocco, Sara Notarnicola, Mohamad Maghnie, Marco Cappa

Publikováno v: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 10 (2019)

Background: Re-testing for GH secretion is needed to confirm the diagnosis of GH deficiency (GHD) after adult height achievement in childhood-onset GHD (COGHD).Aim: To define the cut-off of GH peak after retesting with GH-releasing hormone plus argin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4558426287d4044d89f0531658edea9f
http://hdl.handle.net/11567/1012294

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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

Autor: Mohamad Maghnie, Andrea Accogli, Mariasavina Severino, Annalisa Calcagno, Maria Margherita Mancardi, Raffaele Castello, Annalaura Torella, Vincenzo Nigro, Anna Allegri, Marcello Scala, Francesco Musacchia, Valeria Capra

THO/TREX (transcription/export) is a conserved eukaryotic complex that plays a crucial role in gene expression and prevents DNA damage during mitosis and meiosis. In mammals, TREX is essential during embryogenesis, determining stem cell fate specific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c97689010d2753ca8aeafe4c174cb2
http://hdl.handle.net/11591/403208

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Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Autor: Elisa Tassano, Maurizia Baldi, Daniele Nuzzi, Mattia Pacetti, Valeria Capra, Marco Pavanello, Gianluca Piatelli, Anna Allegri, Andrea Accogli, Pietro Fiaschi, Mariasavina Severino

Publikováno v: American Journal of Medical Genetics Part A. 167:646-652

We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0753bde5de808210600bcb4e40f6c263
https://doi.org/10.1002/ajmg.a.36933

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A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions

Autor: Mohamad Maghnie, Andrea Accogli, Moneef Shoukier, Marcello Scala, Valeria Capra, Anna Allegri, Christoph Peter Bagowski, Elisa De Grandis

Publikováno v: American journal of medical genetics. Part A. 176(3)

Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9971ceb57cfb1be1493cf7c82583d92
https://pubmed.ncbi.nlm.nih.gov/29314551

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