Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Daniz KOOSHAVAR"'
Autor:
Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR
Publikováno v:
Iranian Journal of Public Health, Vol 46, Iss 4 (2017)
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel hetero
Externí odkaz:
https://doaj.org/article/1ac23fb6da4d43d3b79a4b0f179855cf
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Autor:
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Publikováno v:
Brain
Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene disrupted in the reeler mouse, a classic neurological mutant exhibiting ataxia, tremors and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b3c1a92143d583939af4545af99025
https://pubmed.ncbi.nlm.nih.gov/35769015
https://pubmed.ncbi.nlm.nih.gov/35769015
Autor:
Susan, Akbaroghli, Daniz, Kooshavar, Zahra, Golchehre, Arezou, Karamzade, Mohammad, Saberi, Mohammad Reza, Alaei, Masoud, Abbasi Sadegh, Mostafa, Asadollahi, Mohammad, Keramatipour
Publikováno v:
Iranian journal of child neurology. 16(1)
Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy, which includes multi-organ clinical manifestations. The known genes involved in the development of the disease account for the causality in about 80% of the examined cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3130f0fc44e7fbe06efe73b17159874a
https://pubmed.ncbi.nlm.nih.gov/35222663
https://pubmed.ncbi.nlm.nih.gov/35222663
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 104:10-13
Background Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81024fa2aa469640651ba90b3e1ae001
https://doi.org/10.1016/j.ijporl.2017.10.022
https://doi.org/10.1016/j.ijporl.2017.10.022
Autor:
Marziyeh Abolhasani, Effat Farrokhi, Mohammad Amin Tabatabaiefar, Morteza Hashemzadeh-Chaleshtori, Mohammad Reza Noori-Daloii, Daniz Kooshavar
Publikováno v:
International journal of pediatric otorhinolaryngology. 77(2)
Objective Autosomal recessive non-syndromic hearing loss (ARNSHL) can be caused by many genes. However, mutations in the GJB2 gene, which encodes the gap-junction (GJ) protein connexin (Cx) 26, constitute a considerable proportion differing among pop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69253b87df3d01d5df845c9b646f24ba
https://pubmed.ncbi.nlm.nih.gov/23141803
https://pubmed.ncbi.nlm.nih.gov/23141803