Identification of novel candidate genes for inherited retinal disorders by analyzing consanguineous families from Pakistan and Iran

被引：0
|
作者：
Frederiksen, Helen Nabiryo [1 ]
Munir, Asad [2 ]
Anwar, Ijaz [1 ]
Oreshkov, Sergey [1 ]
Zafar, Ainee [3 ]
Rashid, Abdur [1 ]
Ullah, Mukhtar [4 ,5 ]
Umar, Asad [2 ]
Afsar, Salma [2 ]
Javed, Fatima [6 ]
Murtaza, Anum [6 ]
Ashfaq, Kanza [6 ]
Khakwani, Sana Rehman Khan [6 ]
Javed, Samra [7 ]
Arshad, Abida [3 ]
Zulfiqar, Shumaila [6 ]
Kausar, Humera [6 ]
Suri, Fatemeh [8 ]
Firasat, Sabika [9 ]
Rehman, Atta Ur [2 ]
Antonarakis, Stylianos [10 ,11 ]
Ansar, Muhammad [1 ,12 ]
机构：
[1] Univ Lausanne, Jules Gonin Eye Hosp, Dept Ophthalmol, Fdn Asile Des Aveugles, Lausanne, Switzerland
[2] Hazara Univ, Fac Biol & Hlth Sci, Dept Zool, Mansehra, Pakistan
[3] PMAS Arid Agr Univ, Dept Biol, Shamsabad, Rawalpindi, Pakistan
[4] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland
[5] Univ Basel, Dept Ophthalmol, Basel, Switzerland
[6] Kinnaird Coll Women, Dept Biotechnol, Lahore, Pakistan
[7] Lahore Coll Women Univ, Dept Biotechnol, Lahore, Pakistan
[8] Shahid Univ Med Sci, Res Inst Ophthalmol & Vis Sci, Opthalm Res Ctr, Tehran, Iran
[9] Quaid I Azam Univ, Fac Biol Sci, Dept Zool, Islamabad, Pakistan
[10] Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
[11] IGE3 Inst Genet & Genom Geneva, Geneva, Switzerland
[12] Dow Univ Hlth Sci, Adv Mol Genet & Genom Dis Res & Treatment Ctr, Sindh, Pakistan
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P04.034.C
引用
收藏
页码：1338 / 1338
页数：1
相关论文
共 50 条
  • [1] Identification of novel candidate genes for inherited retinal disorders in consanguineous families from Pakistan and Iran
    Frederiksen, Helen Nabiryo
    Munir, Asad
    Anwar, Ijaz
    Oreshkov, Sergey
    Zafar, Ainee
    Choung, Ruth
    Rashid, Abdur
    Ullah, Mukhtar
    Umar, Asad
    Zulfiqar, Shumaila
    Kausar, Humera
    Suri, Fatemeh
    Rehman, Atta Ur
    Antonarakis, Stylianos E.
    Ansar, Muhammad
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [2] Identification of candidate genes for inherited retinal disorders
    Sohocki, MM
    Sorenson, AF
    Shi, G
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U576 - U576
  • [3] Localization of retina/pineal-expressed sequences: Identification of novel candidate genes for inherited retinal disorders
    Sohocki, MM
    Malone, KA
    Sullivan, LS
    Daiger, SP
    GENOMICS, 1999, 58 (01) : 29 - 33
  • [4] Identification of the causal variants for different inherited retinal phenotypes in a complex consanguineous family from Pakistan
    Maria, Maleeha
    Azam, Maleeha
    Ali, Syeda Hafiza Benish
    Cremers, Frans
    Qamar, Raheel
    Khan, Muhammad Imran
    Haer-Wigman, Lonneke
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [5] Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
    Reuter, Miriam S.
    Tawamie, Hasan
    Buchert, Rebecca
    Gebril, Ola Hosny
    Froukh, Tawfiq
    Thiel, Christian
    Uebe, Steffen
    Ekici, Arif B.
    Krumbiegel, Mandy
    Zweier, Christiane
    Hoyer, Juliane
    Eberlein, Karolin
    Bauer, Judith
    Scheller, Ute
    Strom, Tim M.
    Hoffjan, Sabine
    Abdelraouf, Ehab R.
    Meguid, Nagwa A.
    Abboud, Ahmad
    Al Khateeb, Mohammed Ayman
    Fakher, Mahmoud
    Hamdan, Saber
    Ismael, Amina
    Muhammad, Safia
    Abdallah, Ebtessam
    Sticht, Heinrich
    Wieczorek, Dagmar
    Reis, Andre
    Abou Jamra, Rami
    JAMA PSYCHIATRY, 2017, 74 (03) : 293 - 299
  • [6] Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium
    Astuti, Galuh D. N.
    Ben-Yosef, Tamar
    Kohl, Susanne
    Allikmets, Rando
    Black, Graeme C. M.
    Bhattacharya, Shomi S.
    Hamel, Christian P.
    Khan, M. Imran
    Haer-Wigman, Lonneke
    Cremers, Frans P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [7] Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
    Basharat, Rabia
    de Bruijn, Suzanne E.
    Zahid, Muhammad
    Rodenburg, Kim
    Hitti-Malin, Rebekkah J.
    Rodriguez-Hidalgo, Maria
    Boonen, Erica G. M.
    Jarral, Afeefa
    Mahmood, Arif
    Corominas, Jordi
    Khalil, Sharqa
    Zai, Jawaid Ahmed
    Ali, Ghazanfar
    Ruiz-Ederra, Javier
    Gilissen, Christian
    Cremers, Frans P. M.
    Ansar, Muhammad
    Panneman, Daan M.
    Roosing, Susanne
    EXPERIMENTAL EYE RESEARCH, 2024, 244
  • [8] 49 novel recessive candidate genes for intellectual disability and visual impairment in 350 consanguineous families
    Antonarakis, S. E.
    Paracha, S. A.
    Imtiaz, S.
    Nazir, A.
    Waryah, Y. M.
    Makrythanasis, P.
    Qureshi, S.
    Khan, J.
    Falconnet, E.
    Guipponi, M.
    Borel, C.
    Ansari, M. A.
    Frengen, E.
    Ranza, E.
    Santoni, F. A.
    Shah, I.
    Gul, K.
    Ahmed, J.
    Sarwar, M. T.
    Waryah, A. M.
    Ansar, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1500 - 1501
  • [9] Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
    Astuti, Galuh D. N.
    van den Born, L. Ingeborgh
    Khan, M. Imran
    Hamel, Christian P.
    Bocquet, Beatrice
    Manes, Gael
    Quinodoz, Mathieu
    Ali, Manir
    Toomes, Carmel
    McKibbin, Martin
    El-Asrag, Mohammed E.
    Haer-Wigman, Lonneke
    Inglehearn, Chris F.
    Black, Graeme C. M.
    Hoyng, Carel B.
    Cremers, Frans P. M.
    Roosing, Susanne
    GENES, 2018, 9 (01):
  • [10] Identification of novel AAA genes as candidate genes for neurologic disorders.
    Hedera, P
    Zhao, X
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 453 - 453
12345