Zobrazeno 1 - 10 of 833 pro vyhledávání: '"Antona V"'
2
Akademický článek
Distinguishing genetic alterations versus (epi)mutations in Silver-Russell syndrome and focus on the IGF1R gene.
Autor: Vimercati A; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Tannorella P; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Guzzetti S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Calzari L; Bioinformatics and Statistical Genomic Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Gentilini D; Bioinformatics and Statistical Genomic Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Manfredini E; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Gori G; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Gaudino R; Pediatric Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy., Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Daolio C; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Auricchio R; European Laboratory for the Investigation of Food Induced Diseases (ELFID), Department of Translational Medical Science, Section of Pediatrics, University Federico II, Naples, Italy., Sirchia F; Medical Genetic Unit, Department of Diagnostic Medicine, IRCCS San Matteo Hospital Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Minelli A; Medical Genetic Unit, Department of Diagnostic Medicine, IRCCS San Matteo Hospital Foundation, Pavia, Italy., Rossi E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; IRCCS Mondino Foundation Pavia, Italy., Bellini M; Pediatrics and Neonatology Unit, Gugliemo da Saliceto Hospital, 29121 Piacenza, Italy., Biasucci G; Pediatrics and Neonatology Unit, Gugliemo da Saliceto Hospital, 29121 Piacenza, Italy.; Department of Medicine and Surgery, University of Parma, 43125 Parma, Italy., Raucci AR; Division of Genetics and Cell Biology and Laboratory of Clinical Molecular Biology and Cytogenetics, Unit of Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milan, Italy., Pozzobon G; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy., Patti G; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy., Napoli F; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Maghnie M; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy., Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Oct 16. Date of Electronic Publication: 2024 Oct 16.
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4
Akademický článek
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Autor: Serra, Gregorio1 (AUTHOR) gregorio.serra@unipa.it, Antona, Vincenzo1 (AUTHOR), Insinga, Vincenzo1 (AUTHOR), Morgante, Giusy1 (AUTHOR), Vassallo, Alessia1 (AUTHOR), Placa, Simona La1 (AUTHOR), Piro, Ettore1 (AUTHOR), Salerno, Sergio1 (AUTHOR), Schierz, Ingrid Anne Mandy1 (AUTHOR), Gitto, Eloisa2 (AUTHOR), Giuffrè, Mario1 (AUTHOR), Corsello, Giovanni1 (AUTHOR)
Publikováno v: Italian Journal of Pediatrics. 4/14/2024, Vol. 50, p1-7. 7p.
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5
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
Autor: Mangano G. D., Fontana A., Antona V., Salpietro V., Mangano G. R., Giuffre M., Nardello R.
Publikováno v: Molecular geneticsgenomic medicine. 10(5)
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ef4ad102938ff770522fdd7724de1a55
https://pubmed.ncbi.nlm.nih.gov/35348308
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6
Akademický článek
NFIA haploinsufficiency: case series and literature review.
Autor: Dini G; Department of Pediatrics, University of Perugia, Perugia, Italy., Verrotti A; Department of Pediatrics, University of Perugia, Perugia, Italy., Gorello P; Department of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy., Soliani L; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria Dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy., Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria Dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy., Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro,' University of Palermo, Palermo, Italy., Mencarelli A; Medical Genetics Unit, S. Maria della Misericordia Hospital, Perugia, Italy., Colavito D; Research & Innovation S.R.L. (R&I Genetics), Padova, Italy., Prontera P; Medical Genetics Unit, S. Maria della Misericordia Hospital, Perugia, Italy.
Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Oct 17; Vol. 11, pp. 1292654. Date of Electronic Publication: 2023 Oct 17 (Print Publication: 2023).
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7
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Autor: Picketts D; Ottawa Hospital Research Institute., Mirzaa G; Seattle Children's Hospital., Yan K; Ottawa Hospital Research Institute., Relator R; London Health Sciences Centre., Timpano S; Ottawa Hospital Research Institute., Yalcin B; Inserm., Collins S; INSERM UMR-S 1231, University of Bourgogne Franche-Comté., Ziegler A; University Hospital of Angers., Pao E; Seattle Children's Research Institute., Oyama N; Seattle Children's Research Institute., Brischoux-Boucher E; Université de Franche-Comté., Piard J; CHU Besançon., Monaghan K; GeneDx., Sacoto MG; GeneDx, Gaithersburg, MD., Dobyns W; University of Minnesota., Park K; University of Colorado Denver School of Medicine., Fernández-Mayoralas D; Hospital Universitario Quirónsalud., Fernández-Jaén A; Department of Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital., Brusco A; University of Turin., Antona V; University of Palermo., Giorgio E; University of Pavia., Kvarnung M; Karolinska Institutet., Isidor B; CHU de Nantes., Conrad S; Nantes Université., Cogné B; CHU Nantes., Deb W; Nantes Université., Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center., Sterbova K; Charles University and Motol Hospital., Smal N; VIB Center for Molecular Neurology., Weckhuysen S; VIB Center for Molecular Neurology., Oegema R; University Medical Center Utrecht., Innes M; University of Calgary., Latsko M; The Steve and Cindy Rasmussen Institute for Genomic Medicine., Ben-Omran T; Hamad Medical Corporation., Yeh R; Boston Children's Hospital., Kruer M; Phoenix Children's Hospital., Bakhtiari S; University of Arizona College of Medicine., Papavasiliou A; IASO Children's Hospital., Moutton S; CHU François Mitterrand., Nambot S; Centre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs», Hôpital d'Enfants, Centre Hospitalier., Chanprasert S; University of Washington., Paolucci S; University of Washington., Miller K; University of Washington School of Medicine., Burton B; Northwestern University Feinberg School of Medicine., Kim K; Northwestern University Feinberg School of Medicine., O'Heir E; Broad Institute of MIT and Harvard., Bruwer Z; University of Cape Town., Donald K; Division of Developmental Paediatrics, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Klipfontein Road/Private Bag, Rondebosch, 7700/7701, Cape Town, South A., Kleefstra T; Radboud University Medical Centre., Goldstein A; Children's Hospital of Pittsburgh of UPMC., Angle B; Advocate Children's Hospital., Bontempo K; Advocate Children's Hospital., Miny P; University Hospital Basel., Joset P; University Hospital Basel., Demurger F; Institute of Genetics & Development of Rennes., Hobson E; Leeds Teaching Hospitals Trust., Pang L; Royal Devon and Exeter., Carpenter L; St Francis Health Systems., Li D; The Children's Hospital of Philadelphia., Bonneau D; Department of Biochemistry and Genetics, University Hospital of Angers, F-49000., Sadikovic B
Publikováno v: Research square [Res Sq] 2023 Sep 29. Date of Electronic Publication: 2023 Sep 29.
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8
Akademický článek
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Autor: Chi, Yunqian1 (AUTHOR), Yao, Yi2 (AUTHOR), Sun, Futao3 (AUTHOR), Zhang, Wenhong1 (AUTHOR), Zhang, Zihan1 (AUTHOR), Wang, Yunhe1 (AUTHOR), Hao, Wei1,4 (AUTHOR) haowei12875@163.com
Publikováno v: Italian Journal of Pediatrics. 6/24/2024, Vol. 50 Issue 1, p1-8. 8p.
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9
Akademický článek
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.
Autor: Serra, Gregorio1 (AUTHOR) gregorio.serra@unipa.it, Antona, Vincenzo1 (AUTHOR), Di Pace, Maria Rita1 (AUTHOR), Giuffrè, Mario1 (AUTHOR), Morgante, Giusy1 (AUTHOR), Piro, Ettore1 (AUTHOR), Pirrello, Roberto1 (AUTHOR), Salerno, Sergio1 (AUTHOR), Schierz, Ingrid Anne Mandy1 (AUTHOR), Verde, Vincenzo1 (AUTHOR), Corsello, Giovanni1 (AUTHOR)
Publikováno v: Italian Journal of Pediatrics. 12/29/2022, Vol. 48 Issue 1, p1-7. 7p.
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10
The impact of genetic diseases on neonatal and pediatric care
Autor: Mescolo F., Pirrone I., Antona V., La Placa S., Piro E., Schierz I. A. M., Gaglio G., Corsello G., Giuffre M.
The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and conseq
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::e18a40fc75af37e753be78c9b25fa891
http://hdl.handle.net/10447/401734
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