Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Imen Chakchouk"'
Autor:
Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inh
Externí odkaz:
https://doaj.org/article/52e6e3121d234ce98f2a04c42420beb7
Autor:
Zahra Anvar, Imen Chakchouk, Momal Sharif, Sangeetha Mahadevan, Eleni Theodora Nasiotis, Li Su, Zhandong Liu, Ying-Wooi Wan, Ignatia B. Van den Veyver
Publikováno v:
Reproductive Sciences.
Publikováno v:
Prenat Diagn
Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as
Autor:
Amal, Souissi, Dorra, Abdelmalek Driss, Imen, Chakchouk, Mariem, Ben Said, Ikhlas, Ben Ayed, Mohamed Ali, Mosrati, Ines, Elloumi, Abdelaziz, Tlili, Sami, Aifa, Saber, Masmoudi
Publikováno v:
Journal of biomolecular structuredynamics. 40(21)
Hereditary hearing impairment (HI) is a common disease with the highest incidence among sensory defects. Several genes have been identified to affect stereocilia structure causing HI, including the unconventional myosin3A. Interestingly, we noticed t
Autor:
Isabelle Schrauwen, Suzanne M. Leal, Regie Lyn P. Santos-Cortez, Laurent C. Francioli, Zhihui Zhang, Imen Chakchouk, Di Zhang
Publikováno v:
Eur J Hum Genet
Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive nonsyndromic (ARNS)HI genes and variants to HI etiology; pathogenic and likely pathogenic (PLP
Autor:
Imen Chakchouk, Shabir Hussain, Khurram Liaqat, Irfan Ullah, Isabelle Schrauwen, Deborah A. Nickerson, Izoduwa Abbe, Michael J. Bamshad, Kwanghyuk Lee, Wasim Ahmad, Muhammad Ansar, Muhammad Umair, Khadim Shah, Abdul Nasir, Syed Irfan Raza, Anushree Acharya, Suzanne M. Leal
Publikováno v:
Journal of Human Genetics. 64:153-160
Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart auto
Autor:
Ayesha Imtiaz, Atteeq U. Rehman, Asma A. Khan, Robert J. Morell, Deborah A. Nickerson, Khurram Liaqat, Saima Riazuddin, Isabelle Schrauwen, Muhammad Ansar, Anushree Acharya, Shahid Niaz Khan, Takla C, Rafeeq M, Saba Zafar, Wasim Ahmad, Izoduwa Abbe, Kwanghyuk Lee, Taimur Chaudhry, Imen Chakchouk, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Santos-Cortez Rlp, Mohsin Shahzad, Michael J. Bamshad, Elodie Richard, Zubair M. Ahmed
Publikováno v:
Human Mutation. 40:53-72
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping
Autor:
Falak Sher Khan, Imen Chakchouk, Arnaud P. J. Giese, Wasim Ahmad, Abdul Aziz, Ghazanfar Ali, Asmat Ullah, David T Lafont, Saima Riazuddin, Kwanghyuk Lee, Suzanne M. Leal, Zubair Ahmed, Deborah A. Nickerson, Anushree Acharya, Muhammad Ansar, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Isabelle Schrauwen
Publikováno v:
Journal of Bone and Mineral Research. 34:375-386
Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA
Autor:
Dorra Driss, Mariem Ben Said, Mohamed Ali Mosrati, Imen Chakchouk, Sami Aifa, Amal Souissi, Ikhlas Ben Ayed, Saber Masmoudi, Abdelaziz Tlili, Ines Elloumi
Hereditary hearing impairment (HI) is a common disease with the highest incidence among sensory defects. Several genes have been identified to affect stereocilia structure causing HI, including the unconventional myosin3A. Interestingly, we noticed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7099d0aa4b51b20ba420d3e4d4517819
Autor:
Imen Chakchouk, Katharine E. Shelly, Jessica Rubin, Momal Sharif, Hadi Erfani, Rajesh Ramakrishnan, Sangeetha Mahadevan, Lan Liao, Isabel Lorenzo, Sara E. Arian, Ignatia B. Van den Veyver
Publikováno v:
Reprod Sci
Nlrp2 encodes a protein of the oocyte subcortical maternal complex (SCMC), required for embryo development. We previously showed that loss of maternal Nlrp2 in mice causes subfertility, smaller litters with birth defects, and growth abnormalities in