Zobrazeno 1 - 10
of 99
pro vyhledávání: '"autosomal recessive primary microcephaly"'
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103594- (2024)
Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC)
Externí odkaz:
https://doaj.org/article/583031031b864f3d9f855ca462eeedd8
Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation
Externí odkaz:
https://doaj.org/article/f63a3d526d974c7ca4072f172e4be996
Autor:
Razmara, Ehsan a, Azimi, Homeyra b, Tavasoli, Ali Reza c, Fallahi, Elnaz d, Sheida, Sadaf Valeh e, Eidi, Milad a, Bitaraf, Amirreza e, Farjami, Zahra f, Daneshmand, Mohammad Ali g, ∗∗, Garshasbi, Masoud a, ∗
Publikováno v:
In European Journal of Medical Genetics December 2020 63(12)
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-6 (2020)
Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a s
Externí odkaz:
https://doaj.org/article/34af2326ae414d8895880cf5abbec5ab
Autor:
Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture
Externí odkaz:
https://doaj.org/article/196ce69523b143688964aa9e70701aa6
Akademický článek
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Publikováno v:
Iranian Journal of Public Health, Vol 48, Iss 11 (2019)
Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder, leading to the defect of neurogenic brain development. Individuals with MCPH reveal reduced head circumference and intellectual disability. Several MCPH loci have been identi
Externí odkaz:
https://doaj.org/article/7ef440e9ebf6467199f1c09096b46ef4
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Background: Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. WDR62 gene mutations are the second most common cause
Externí odkaz:
https://doaj.org/article/ea693d8fb5214c40ad4afbd7c1df7876
Autor:
Alrayes, Nuha a, b, 1, Mohamoud, Hussein Sheikh Ali b, 1, Ahmed, Saleem a, c, Almramhi, Mona Mohammad a, Shuaib, Taghreed Mohammad d, Wang, Jun a, e, Al-Aama, Jumana Yousuf a, f, Everett, Kate b, Nasir, Jamal b, Jelani, Musharraf a, g, ⁎
Publikováno v:
In Journal of the Neurological Sciences 15 April 2016 363:240-244