Zobrazeno 1 - 10
of 282
pro vyhledávání: '"Hybridization Array"'
Autor:
Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the ge
Externí odkaz:
https://doaj.org/article/872fb87bc0864d7fb98d4d1990882c75
Autor:
David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its al
Externí odkaz:
https://doaj.org/article/3b2a828be25a4ee0b5a27a8405a51847
Autor:
Raniah S. Alotibi, Naif S. Sannan, Mariam AlEissa, Marwh G. Aldriwesh, Abeer Al Tuwaijri, Maaged A. Akiel, Mashael Almutairi, Alhanouf Alsamer, Nouf Altharawi, Ghadah Aljawfan, Badi Alotiabi, Mohammed A. AlBlawi, Ahmed Alfares
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a com
Externí odkaz:
https://doaj.org/article/d00ea30db7dd4a65928be8f0a12d717f
Autor:
Lijun Cheng, Pankita H. Pandya, Enze Liu, Pooja Chandra, Limei Wang, Mary E. Murray, Jacquelyn Carter, Michael Ferguson, Mohammad Reza Saadatzadeh, Khadijeh Bijangi-Visheshsaraei, Mark Marshall, Lang Li, Karen E. Pollok, Jamie L. Renbarger
Publikováno v:
BMC Medical Genomics, Vol 12, Iss S1, Pp 89-106 (2019)
Abstract Background While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies are urgently needed t
Externí odkaz:
https://doaj.org/article/c84d516da0b2495cade50ee11486450f
Autor:
Hanna Kahila, Heidi Marjonen, Pauliina Auvinen, Kristiina Avela, Raili Riikonen, Nina Kaminen‐Ahola
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background A pair of dizygotic twins discordantly affected by heavy prenatal alcohol exposure (PAE) was reported previously by Riikonen, suggesting the role of genetic risk or protective factors in the etiology of alcohol‐induced developme
Externí odkaz:
https://doaj.org/article/960c81911a95489f95935c6e7e1831f6
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 69-72 (2018)
The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;2
Externí odkaz:
https://doaj.org/article/232f79beb6a1406fbfc0f75b1589861c
Akademický článek
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Autor:
Pere Soler-Palacín, Marina Garcia-Prat, Andrea Martín-Nalda, Clara Franco-Jarava, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Mattia Bosio, Mónica Martínez-Gallo, Stephan Ossowski, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, su
Externí odkaz:
https://doaj.org/article/73d870f72b4f49fc8c73558893d8a345
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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