Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sobia Shafique"'
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Autor:
Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis i
Externí odkaz:
https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f
Autor:
Humaira Ayub, Shazia Micheal, Farah Akhtar, Muhammad Imran Khan, Shaheena Bashir, Nadia K Waheed, Mahmood Ali, Frederieke E Schoenmaker-Koller, Sobia Shafique, Raheel Qamar, Anneke I den Hollander
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e105023 (2014)
Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A
Externí odkaz:
https://doaj.org/article/b57d16150a6e47ad9cc962b3ea790c6b
Autor:
Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100146 (2014)
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafne
Externí odkaz:
https://doaj.org/article/0ff92de14e01459da9c0b5e21e2c36d0
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Autor:
Tahir N. Khan, Chunyu Liu, Shahar Bano, Zaineb Akram, Muhammad Farhan, Sughra Wahid, Feng Zhang, Tariq Ghafoor, Jianqiu Xiao, Humayoon Shafique Satti, Muhammad Ajmal, Sobia Shafique
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis is necessa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c61f8d2762ff895fb2360e9837902c6
http://europepmc.org/articles/PMC8576874
http://europepmc.org/articles/PMC8576874
Autor:
Shaheena Bashir, Adil Ayub, Aisha Azam, Shakil Ahmed, Sobia Shafique, Humaira Ayub, Anneke I. den Hollander, Bjorn Bakker, Muhammad Asim Khan, Nauman A Qazi, Irfan Muslim, Raheel Qamar, Farah Akhtar, Maleeha Azam
Publikováno v:
Annals of Human Genetics, 83, 285-290
Annals of Human Genetics, 83, 4, pp. 285-290
Annals of Human Genetics, 83, 4, pp. 285-290
Age-related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current study investigated the association of single-nucleotide polymorphisms (SNPs) with AMD in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c59e0a03467abdd2f8afa20054d18f
https://doi.org/10.1111/ahg.12311
https://doi.org/10.1111/ahg.12311
Autor:
Sobia Shafique, Saima Riazuddin, Maleeha Azam, Arnaud P. J. Giese, Anne M.M. Oonk, Hannie Kremer, Ronald J.C. Admiraal, Rolien Free, Rashmi S. Hegde, Helger G. Yntema, Zubair M. Ahmed, Jaap Oostrik, Mike Grossheim, Gregory I. Frolenkov, Celia Zazo Seco, Erwin van Wijk, Tim M. Strom, Raheel Qamar, Margit Schraders, Joke B. G. M. Verheij
Publikováno v:
European Journal of Human Genetics, 24(4), 542-549. Nature Publishing Group
European Journal of Human Genetics, 24, 4, pp. 542-9
European Journal of Human Genetics, 24, 542-9
Eur. J. Hum. Genet. 24, 542-549 (2016)
European Journal of Human Genetics, 24, 4, pp. 542-9
European Journal of Human Genetics, 24, 542-9
Eur. J. Hum. Genet. 24, 542-549 (2016)
Contains fulltext : 167996.pdf (Publisher’s version ) (Closed access) Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37edb0591f72ab9fa365cf6705faebef
https://hdl.handle.net/11370/83d9e25f-ae1a-4b58-9f51-3f5071424eaa
https://hdl.handle.net/11370/83d9e25f-ae1a-4b58-9f51-3f5071424eaa
Autor:
Maleeha Azam, Shaheena Bashir, Nadia K Waheed, Raheel Qamar, Sobia Shafique, Abdul Mannan Khan Minhas, Rida Khursheed Malik, Maleeha Maria, Pir Muhammad Siddique, Wajid Ali Khan, Sorath Noorani Siddiqui, Arsalan Anwar Chohan
Publikováno v:
2016 New York Scientific Data Summit (NYSDS).
Purpose: Three genes VSX1, HGF and LOX have been previously reported to be causative of keratoconus (KC) in different populations. In the current study we investigated the role of these genes in three autosomal recessive Pakistani families and 100 sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4008e37ae533cdf5a6e3c5e523bcd43
https://doi.org/10.1109/nysds.2016.7747822
https://doi.org/10.1109/nysds.2016.7747822
Autor:
Alamdar Hussain, Syed Ahmed Shah, Raheel Qamar, Tim M. Strom, Kehkashan Mazhar, Sobia Shafique, Maleeha Azam, Margit Schraders, Celia Zazo Seco, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Atika Mansoor, Saima Siddiqi, Muhammad Ajmal, Hannie Kremer
Publikováno v:
PLoS ONE
PLoS ONE 9:e100146 (2014)
PLoS ONE, Vol 9, Iss 6, p e100146 (2014)
PLoS One, 9
PLoS One, 9, 6
PLoS ONE 9:e100146 (2014)
PLoS ONE, Vol 9, Iss 6, p e100146 (2014)
PLoS One, 9
PLoS One, 9, 6
Contains fulltext : 138088.pdf (Publisher’s version ) (Open Access) The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a554dc7aaa7ceef8b3d1e36c68a29b5
http://europepmc.org/articles/PMC4065008
http://europepmc.org/articles/PMC4065008