Výsledky vyhledávání - "Carlos A Bacino"

Akademický článek

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Publikováno v: PLoS Genetics, Vol 13, Iss 7, p e1006905 (2017)

Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be d

Externí odkaz: https://doaj.org/article/56bd9b19ccf04563bd8e2253cc607059

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Akademický článek

Developmental milestones and daily living skills in individuals with Angelman syndrome

Autor: Anjali Sadhwani, Sonya Powers, Anne Wheeler, Hillary Miller, Sarah Nelson Potter, Sarika U. Peters, Carlos A. Bacino, Steven A. Skinner, Logan K. Wink, Craig A. Erickson, Lynne M. Bird, Wen-Hann Tan

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)

Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to dete

Externí odkaz: https://doaj.org/article/dfcc6e6c959b4aa897d9268753592448

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Akademický článek

Mechanisms for Complex Chromosomal Insertions.

Autor: Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Paweł Stankiewicz, James R Lupski

Publikováno v: PLoS Genetics, Vol 12, Iss 11, p e1006446 (2016)

Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains. Little is

Externí odkaz: https://doaj.org/article/f2390e2325234092888cd316fbc87b0d

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Akademický článek

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Publikováno v: PLoS Genetics, Vol 10, Iss 3, p e1004258 (2014)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary ca

Externí odkaz: https://doaj.org/article/5e906b4e11814a4b99a07d1ad5eeb99e

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Akademický článek

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Autor: Ian M Campbell, Mitchell Rao, Sean D Arredondo, Seema R Lalani, Zhilian Xia, Sung-Hae L Kang, Weimin Bi, Amy M Breman, Janice L Smith, Carlos A Bacino, Arthur L Beaudet, Ankita Patel, Sau Wai Cheung, James R Lupski, Paweł Stankiewicz, Melissa B Ramocki, Chad A Shaw

Publikováno v: PLoS Genetics, Vol 9, Iss 9, p e1003797 (2013)

Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal genome. Conventional determination of phenotypic relevance relies on patterns of higher freque

Externí odkaz: https://doaj.org/article/e7b8418024c44b38875a1c62f7a3551d

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Akademický článek

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Autor: Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino, Pawel Stankiewicz, Zhishu Ou, A Craig Chinault, Arthur L Beaudet, James R Lupski, Sau W Cheung, Patricia A Ward

Publikováno v: PLoS ONE, Vol 2, Iss 3, p e327 (2007)

BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high res

Externí odkaz: https://doaj.org/article/2729b6231a9b4992a3937c4112d5c4e6

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Akademický článek

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-21 (2023)

Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data

Externí odkaz: https://doaj.org/article/ef450fe783de498baf723d4e7e4e74fb

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Akademický článek

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialResearch in context

Publikováno v: EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)

Summary: Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and

Externí odkaz: https://doaj.org/article/07498b64dfd0403e9988b282f640b406

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