322 related articles for article (PubMed ID: 30270463)
1. Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.
Afzal R; Firasat S; Kaul H; Ahmed B; Siddiqui SN; Zafar SN; Shahzadi M; Afshan K
Congenit Anom (Kyoto); 2019 Sep; 59(5):152-161. PubMed ID: 30270463
[TBL] [Abstract][Full Text] [Related]
2. Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
Tehreem R; Arooj A; Siddiqui SN; Naz S; Afshan K; Firasat S
PLoS One; 2022; 17(9):e0274335. PubMed ID: 36083974
[TBL] [Abstract][Full Text] [Related]
3. Identities and frequencies of variants in
Rashid M; Yousaf S; Sheikh SA; Sajid Z; Shabbir AS; Kausar T; Tariq N; Usman M; Shaikh RS; Ali M; Bukhari SA; Waryah AM; Qasim M; Riazuddin S; Ahmed ZM
Mol Vis; 2019; 25():144-154. PubMed ID: 30820150
[TBL] [Abstract][Full Text] [Related]
4. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
Abu-Amero KK; Osman EA; Mousa A; Wheeler J; Whigham B; Allingham RR; Hauser MA; Al-Obeidan SA
Mol Vis; 2011; 17():2911-9. PubMed ID: 22128238
[TBL] [Abstract][Full Text] [Related]
5. Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Micheal S; Ayub H; Zafar SN; Bakker B; Ali M; Akhtar F; Islam F; Khan MI; Qamar R; den Hollander AI
Clin Exp Ophthalmol; 2015; 43(1):31-9. PubMed ID: 25091052
[TBL] [Abstract][Full Text] [Related]
6. In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.
Firasat S; Kaul H; Ashfaq UA; Idrees S
Int Ophthalmol; 2018 Apr; 38(2):807-814. PubMed ID: 28386709
[TBL] [Abstract][Full Text] [Related]
7. Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma.
Bashir R; Tahir H; Yousaf K; Naz S; Naz S
Gene; 2015 Oct; 570(2):295-8. PubMed ID: 26164761
[TBL] [Abstract][Full Text] [Related]
8. CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.
Bouyacoub Y; Ben Yahia S; Abroug N; Kahloun R; Kefi R; Khairallah M; Abdelhak S
Ann Hum Genet; 2014 Jul; 78(4):255-63. PubMed ID: 24942078
[TBL] [Abstract][Full Text] [Related]
9. Investigation of
Jubair S; N Al-Rubae'i SH; M Al-Sharifi AN; Jabbar Suleiman AA
Middle East Afr J Ophthalmol; 2019; 26(4):203-209. PubMed ID: 32153331
[TBL] [Abstract][Full Text] [Related]
10. Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.
Sheikh SA; Waryah AM; Narsani AK; Shaikh H; Gilal IA; Shah K; Qasim M; Memon AI; Kewalramani P; Shaikh N
Mol Vis; 2014; 20():991-1001. PubMed ID: 25018621
[TBL] [Abstract][Full Text] [Related]
11. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani BA; Stockton DW; Lewis RA; Tomey KF; Dueker DK; Jabak M; Astle WF; Lupski JR
Hum Mol Genet; 2000 Feb; 9(3):367-74. PubMed ID: 10655546
[TBL] [Abstract][Full Text] [Related]
12. Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.
Al-Haddad C; Abdulaal M; Badra R; Barikian A; Noureddine B; Farra C
Ophthalmic Genet; 2016; 37(1):31-6. PubMed ID: 24940937
[TBL] [Abstract][Full Text] [Related]
13. CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
Badeeb OM; Micheal S; Koenekoop RK; den Hollander AI; Hedrawi MT
BMC Med Genet; 2014 Sep; 15():109. PubMed ID: 25261878
[TBL] [Abstract][Full Text] [Related]
14. Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.
Bashir R; Yousaf K; Tahir H; Sanai M; Qayyum S; Naz S; Naz S
J Pak Med Assoc; 2018 Aug; 68(8):1205-1211. PubMed ID: 30108387
[TBL] [Abstract][Full Text] [Related]
15. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Hilal L; Boutayeb S; Serrou A; Refass-Buret L; Shisseh H; Bencherifa F; El Mzibri M; Benazzouz B; Berraho A
Mol Vis; 2010 Jul; 16():1215-26. PubMed ID: 20664688
[TBL] [Abstract][Full Text] [Related]
16. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
17. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E; Mañé B; Duch S; Hernan I; Borràs E; Planas E; Dias Mde S; Carballo M; Gamundi MJ;
Mol Vis; 2013; 19():1707-22. PubMed ID: 23922489
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
El-Gayar S; Ganesh A; Chavarria-Soley G; Al-Zuhaibi S; Al-Mjeni R; Raeburn S; Bialasiewicz AA
Mol Vis; 2009 Jul; 15():1325-31. PubMed ID: 19597567
[TBL] [Abstract][Full Text] [Related]
19. Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
Micheal S; Siddiqui SN; Zafar SN; Iqbal A; Khan MI; den Hollander AI
PLoS One; 2016; 11(7):e0159259. PubMed ID: 27409795
[TBL] [Abstract][Full Text] [Related]
20. Two novel variants in
Waryah YM; Iqbal M; Sheikh SA; Baig MA; Narsani AK; Atif M; Bhinder MA; Ur Rahman A; Memon AI; Pirzado MS; Waryah AM
Int J Ophthalmol; 2019; 12(1):8-15. PubMed ID: 30662834
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
