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

页码：1338 / 1338

页数：1

共 50 条

[31] Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Valero, Marta
Bauwens, Miriam
De Bruyne, Marieke
Van den Broeck, Filip
Dulst, Stephanie
Quinten, Quinten
Meunier, Audrey
de Ravel, Thomy
Ruys, Joke
Van Heetvelde, Mattias
Balikova, Irina
Vermeer, Sascha
De Zaeytijd, Julie
Leroy, Bart
De Baere, Elfride
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
[32] Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
Ahmed, Iftikhar
Muzammal, Muhammad
Khan, Muzammil Ahmad
Ullah, Hafiz
Farid, Arshad
Yasin, Muhammad
Khan, Jabbar
Alam, Khurshid
Mir, Asif
BIOCHEMICAL GENETICS, 2023, 62 (4) : 2571 - 2586
[33] Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families
Semjid, Dejidnorov
Ahn, Hyunsoo
Bayarmagnai, Sapaar
Gantumur, Munkhjargal
Kim, Sanguk
Lee, Jae Hoon
CLINICAL ORAL INVESTIGATIONS, 2023, 28 (01)
[34] Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
R Harripaul
N Vasli
A Mikhailov
M A Rafiq
K Mittal
C Windpassinger
T I Sheikh
A Noor
H Mahmood
S Downey
M Johnson
K Vleuten
L Bell
M Ilyas
F S Khan
V Khan
M Moradi
M Ayaz
F Naeem
A Heidari
I Ahmed
S Ghadami
Z Agha
S Zeinali
R Qamar
H Mozhdehipanah
P John
A Mir
M Ansar
L French
M Ayub
J B Vincent
Molecular Psychiatry, 2018, 23 : 973 - 984
[35] Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
Harripaul, R.
Vasli, N.
Mikhailov, A.
Rafiq, M. A.
Mittal, K.
Windpassinger, C.
Sheikh, T. I.
Noor, A.
Mahmood, H.
Downey, S.
Johnson, M.
Vleuten, K.
Bell, L.
Ilyas, M.
Khan, F. S.
Khan, V.
Moradi, M.
Ayaz, M.
Naeem, F.
Heidari, A.
Ahmed, I.
Ghadami, S.
Agha, Z.
Zeinali, S.
Qamar, R.
Mozhdehipanah, H.
John, P.
Mir, A.
Ansar, M.
French, L.
Ayub, M.
Vincent, J. B.
MOLECULAR PSYCHIATRY, 2018, 23 (04) : 973 - 984
[36] Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models
Cremers, Frans P. M.
Boon, Camiel J. E.
Bujakowska, Kinga
Zeitz, Christina
GENES, 2018, 9 (04):
[37] Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
de Castro-Miro, Marta
Tonda, Raul
Escudero-Ferruz, Paula
Andres, Rosa
Mayor-Lorenzo, Andres
Castro, Joaquin
Ciccioli, Marcela
Hidalgo, Daniel A.
Jose Rodriguez-Ezcurra, Juan
Farrando, Jorge
Perez-Santonja, Juan J.
Cormand, Bru
Marfany, Gemma
Gonzalez-Duarte, Roser
PLOS ONE, 2016, 11 (12):
[38] Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Maria, Maleeha
Ajmal, Muhammad
Azam, Maleeha
Waheed, Nadia Khalida
Siddiqui, Sorath Noorani
Mustafa, Bilal
Ayub, Humaira
Ali, Liaqat
Ahmad, Shakeel
Micheal, Shazia
Hussain, Alamdar
Shah, Syed Tahir Abbas
Ali, Syeda Hafiza Benish
Ahmed, Waqas
Khan, Yar Muhammad
den Hollander, Anneke I.
Haer-Wigman, Lonneke
Collin, Rob W. J.
Khan, Muhammad Imran
Qamar, Raheel
Cremers, Frans P. M.
PLOS ONE, 2015, 10 (03):
[39] Whole-exome sequencing allows the identification of new causal mutations and candidate genes in unsolved inherited retinal dystrophy patients
Martin-Sanchez, Marta
Fernandez-Suarez, Elena
Bravo-Gil, Nereida
Mendez-Vidal, Cristina
Gonzalez-del Pozo, Maria
Mena, Marcela
Manuel Mejias-Carrasco, Jose
Garcia-Nunez, Alejandro
Rodriguez-de la Rua, Enrique
Morillo Sanchez, Maria Jose
Borrego, Salud
Antinolo, Guillermo
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 114 - 114
[40] A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
Martin-Sanchez, Marta
Bravo-Gil, Nereida
Gonzalez-del Pozo, Maria
Mendez-Vidal, Cristina
Fernandez-Suarez, Elena
Rodriguez-de la Rua, Enrique
Borrego, Salud
Antinolo, Guillermo
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (24) : 1 - 12

← 1 2 3 4 5 →