Zobrazeno 1 - 10
of 409
pro vyhledávání: '"7q11.23"'
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Objective Analyze the ultrasound findings, single nucleotide polymorphism array (SNP-array) results, and pregnancy outcomes of fetuses with 7q11.23 deletions and duplications in the second and third trimesters. Investigate the prenatal ultra
Externí odkaz:
https://doaj.org/article/1a90cb5e37c846e8a066a336c80ad795
Akademický článek
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Autor:
Ana Braslavsky, Valentina Riveros
Publikováno v:
Revista del Hospital Italiano de Buenos Aires, Vol 43, Iss 3, Pp 143-146 (2023)
A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episode
Externí odkaz:
https://doaj.org/article/06cf8a45b316400391890947eec59187
Akademický článek
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Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome
Externí odkaz:
https://doaj.org/article/2df3eb488ad54c349d4fc4464abc0846
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Semra Gürsoy, Filiz Hazan, Cüneyt Zihni, Sezer Acar, Murat Muhtar Yılmazer, Timur Meşe, Behzat Özkan
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 3, Pp 297-302 (2021)
Aim:Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this
Externí odkaz:
https://doaj.org/article/56a7e3460ec04a8a8563d29e7c9dd628
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Autor:
Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K. C. Yuen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggestin
Externí odkaz:
https://doaj.org/article/850b47c9a2c641a4801f7fc30fe86317
Autor:
Francesca Cavallo, Flavia Troglio, Giovanni Fagà, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, Matteo Zanella, Giuseppe D’Agostino, James M. Hughes, Maria Rosaria Cera, Maurizio Pasi, Michele Gabriele, Maddalena Lazzarin, Marija Mihailovich, Frank Kooy, Alessandro Rosa, Ciro Mercurio, Mario Varasi, Giuseppe Testa
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)
Abstract Background Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition affecting almost 1% of children, and represents a major unmet medical need with no effective drug treatment available. Duplication at 7q11.23 (7Dup)
Externí odkaz:
https://doaj.org/article/8a6215aea7bb40f2bf98c05a3d022f77
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-13 (2020)
Abstract Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially
Externí odkaz:
https://doaj.org/article/a60056878d7c4288b843c52f19958805