Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Atefeh Khoshaeen"'
Publikováno v:
Case Reports in Clinical Practice, Vol 8, Iss 6 (2024)
So far, different types of SOX5 variants have been reported in patients with LAMSHF syndrome, which are mainly clustered in the HMG domain. The LAMSHF syndrome has a broad variety of clinical manifestations such as developmental delay, speech delay,
Externí odkaz:
https://doaj.org/article/3ee4494e47a8455cac6429a9d897ad7f
Publikováno v:
Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case chil
Externí odkaz:
https://doaj.org/article/eb7087e0c54a40adb9bca9b4297354f0
Autor:
Marzieh Mohseni, Kevin T. Booth, Atefeh Khoshaeen, Fatemeh Bahrami, Payman Jamali, Hossein Najmabadi, Niloofar Bazazzadegan, Kimia Kahrizi, Nooshin Nikzat, Farkhonde Habibi, Richard J.H. Smith, Fariba Ardalani, Mojgan Babanejad, Hanieh Behravan, Fatemeh Keshavarzi, Michael Nothnagel, Faezeh Jahanshad, Seyed Morteza Seifati, Fatemeh Ghodratpour, Sanaz Arzhangi, Behzad Davarnia, Zohreh Mehrjoo, Holger Thiele, Khadijeh Jalalvand, Maryam Beheshtian, Hela Azaiez, Sepide Mirzaei, Hasan Otukesh
Publikováno v:
Clin Genet
Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2652aadda21337130620b09922d67a
https://europepmc.org/articles/PMC8195868/
https://europepmc.org/articles/PMC8195868/
Autor:
Seyed Morteza Seifati, Maryam Beheshtian, Kevin T. Booth, Behzad Davarnia, Faezeh Jahanshad, Farkhonde Habibi, Michael Nothnagel, Atefeh Khoshaeen, Hanieh Behravan, K. Kahrizi, Fatemeh Ghodratpour, Sanaz Arzhangi, Fatemeh Bahrami, Hossein Najmabadi, Payman Jamali, Marzieh Mohseni, Fariba Ardalani, Mojgan Babanejad, Khadijeh Jalalvand, Hela Azaiez, Sepide Mirzaei, Holger Thiele, Zohreh Mehrjoo, Hasan Otukesh, Nooshin Nikzat, Richard J.H. Smith, Fatemeh Keshavarzi, Niloofar Bazazzadegan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c907ed7b80c8ef2500764b3b5e3a683f
https://doi.org/10.1111/cge.13956/v4/response1
https://doi.org/10.1111/cge.13956/v4/response1
Publikováno v:
European journal of ophthalmology. 31(5)
Background: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive deterioration of peripheral night vision and blindness are the foremost clinical manifestations of the disease caused by mutations of ornithine aminotrans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78e2e4cb3454d7e142874ea8e5f32d5
https://pubmed.ncbi.nlm.nih.gov/32418451
https://pubmed.ncbi.nlm.nih.gov/32418451
Autor:
Payman Jamali, Zhila Ghaderi, Hans-Hilger Ropers, Haleh Habibi, Fatemeh Pourfatemi, Farahnaz Sabbagh Kermani, Zohreh Mehrjoo, Kimia Kahrizi, Farnaz Sadeghinia, Hao Hu, Vera M. Kalscheuer, Bettina Lipkowitz, Reza Najafipour, Sanaz Arzhangi, Maryam Rahimi, Pooneh Nikuei, Atefeh Khoshaeen, Marzieh Mohseni, Masoumeh Hosseini, Hossein Najmabadi, Vanessa Suckow, Milad Falahat Chian, Faezeh Mojahedi, Sepideh Mehvari, Zohreh Fattahi, Maryam Beheshtian, Roshanak Jazayeri, Mohammad-Reza Khodaie-Ardakani, S. Hassan Tonekaboni, Tara Akhtarkhavari, Thomas F. Wienker
Publikováno v:
Clinical Genetics: an international journal of genetics in medicine
In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) is very rare. Due to the high rate of parental consanguinity which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d18258ca62a6b38f16c652a132bcc0
https://doi.org/10.1111/cge.13463
https://doi.org/10.1111/cge.13463
Autor:
Mohammad-Reza Khodaie-Ardakani, Farahnaz Sabbagh Kermani, K. Kahrizi, Roshanak Jazayeri, Pooneh Nikuei, Payman Jamali, Masoumeh Hosseini, Faezeh Mojahedi, Tara Akhtarkhavari, Zhila Ghaderi, Sepideh Mehvari, Atefeh Khoshaeen, Zohreh Fattahi, Marzieh Mohseni, Maryam Beheshtian, Zohreh Mehrjoo, Haleh Habibi, Vera M. Kalscheuer, Hao Hu, Bettina Lipkowitz, Hossein Najmabadi, Sanaz Arzhangi, Fatemeh Pourfatemi, Thomas F. Wienker, Vanessa Suckow, Seyed Hassan Tonekaboni, Hans-Hilger Ropers, Farnaz Sadeghinia, Reza Najafipour, Maryam Rahimi, Milad Falahat Chian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::000e3618e22f42b36e7c1116d71c1d08
https://doi.org/10.1111/cge.13463/v2/response1
https://doi.org/10.1111/cge.13463/v2/response1
Autor:
Maryam Taghdiri, Nooshin Nikzat, Niloofar Bazzazadegan, Zohreh Fattahi, Batool Azadeh, Haleh Habibi, Kimia Kahrizi, Hossein Najmabadi, Farahnaz Sabbagh-Kermani, Atie Kashef, Atefeh Khoshaeen, Faezeh Mojahedi
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 79:136-138
Objective Hereditary hearing loss is the most common neurosensory disorder in humans. Half of the cases have genetic etiology with extraordinary genetic heterogeneity. Mutations in one gene, GJB2, are the most common cause for autosomal recessive non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f911245a71c02f427ea31d11087d98
https://doi.org/10.1016/j.ijporl.2014.11.024
https://doi.org/10.1016/j.ijporl.2014.11.024
Autor:
Farahnaz Sabbagh Kermani, Hossein Najmabadi, Narges Nouri, Atie Kashef, Shima Sahraian, Atefeh Khoshaeen, Faezeh Mojahedi, Mojgan Babanejad, Niloofar Bazazzadegan, Maryam Taghdiri, Kimia Kahrizi, Batool Azadeh, Payman Jamali, Hilda Yazdan, Richard J.H. Smith, Haleh Habibi, Zohreh Fattahi, Nicole C. Meyer, Farahnaz Reyhanifar, Nooshin Nikzat, Carla Nishimura
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 76:1164-1174
Objective Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c0e2aeb3e8d0791170edd0a07206dc
https://doi.org/10.1016/j.ijporl.2012.04.026
https://doi.org/10.1016/j.ijporl.2012.04.026