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NMNAT1 mutations cause Leber congenital amaurosis.
Published in:
Nature Genetics, 2012, v. 44, n. 9, p. 1040, doi. 10.1038/ng.2361
By:
- Falk, Marni J;
- Zhang, Qi;
- Nakamaru-Ogiso, Eiko;
- Kannabiran, Chitra;
- Fonseca-Kelly, Zoe;
- Chakarova, Christina;
- Audo, Isabelle;
- Mackay, Donna S;
- Zeitz, Christina;
- Borman, Arundhati Dev;
- Staniszewska, Magdalena;
- Shukla, Rachna;
- Palavalli, Lakshmi;
- Mohand-Said, Saddek;
- Waseem, Naushin H;
- Jalali, Subhadra;
- Perin, Juan C;
- Place, Emily;
- Ostrovsky, Julian;
- Xiao, Rui
Publication type:
Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
By:
- Khanna, Hemant;
- Davis, Erica E.;
- Murga-Zamalloa, Carlos A.;
- Estrada-Cuzcano, Alejandro;
- Lopez, Irma;
- den Hollander, Anneke I.;
- Zonneveld, Marijke N.;
- Othman, Mohammad I.;
- Waseem, Naushin;
- Chakarova, Christina F.;
- Maubaret, Cecilia;
- Diaz-Font, Anna;
- MacDonald, Ian;
- Muzny, Donna M;
- Wheeler, David A.;
- Morgan, Margaret;
- Lewis, Lora R.;
- Logan, Clare V.;
- Tan, Perciliz L.;
- Beer, Michael A.
Publication type:
Article
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Published in:
PLoS Genetics, 2020, v. 16, n. 4, p. 1, doi. 10.1371/journal.pgen.1008721
By:
- Waseem, Naushin H.;
- Low, Sancy;
- Shah, Amna Z.;
- Avisetti, Deepa;
- Ostergaard, Pia;
- Simpson, Michael;
- Niemiec, Katarzyna A.;
- Martin-Martin, Belen;
- Aldehlawi, Hebah;
- Usman, Saima;
- Lee, Pak Sang;
- Khawaja, Anthony P.;
- Ruddle, Jonathan B.;
- Shah, Ameet;
- Sackey, Ege;
- Day, Alexander;
- Jiang, Yuzhen;
- Swinfield, Geoff;
- Viswanathan, Ananth;
- Alfano, Giovanna
Publication type:
Article
A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
Published in:
Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3
By:
- Papaioannou, Myrto;
- Chakarova, Christina F.;
- Prescott, De Quincy C.;
- Waseem, Naushin;
- Theis, Thorsten;
- Lopez, Irma;
- Gill, Bhavdip;
- Koenekoop, Robert K.;
- Bhattacharya, Shomi S.
Publication type:
Article
Vimentin Is at the Heart of Epithelial Mesenchymal Transition (EMT) Mediated Metastasis.
Published in:
Cancers, 2021, v. 13, n. 19, p. 4985, doi. 10.3390/cancers13194985
By:
- Usman, Saima;
- Waseem, Naushin H.;
- Nguyen, Thuan Khanh Ngoc;
- Mohsin, Sahar;
- Jamal, Ahmad;
- Teh, Muy-Teck;
- Waseem, Ahmad
Publication type:
Article
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52
By:
- Berry, Vanita;
- Gregory-Evans, Cheryl;
- Emmett, Warren;
- Waseem, Naushin;
- Raby, Jacob;
- Prescott, DeQuincy;
- Moore, Anthony T;
- Bhattacharya, Shomi S
Publication type:
Article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Published in:
2016
By:
- Hull, Sarah;
- Arno, Gavin;
- Ku, Cristy A.;
- Zhongqi Ge;
- Waseem, Naushin;
- Chandra, Aman;
- Webster, Andrew R.;
- Robson, Anthony G.;
- Michaelides, Michel;
- Weleber, Richard G.;
- Davagnanam, Indran;
- Rui Chen;
- Holder, Graham E.;
- Pennesi, Mark E.;
- Moore, Anthony T.;
- Ge, Zhongqi;
- Chen, Rui
Publication type:
journal article
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
Published in:
BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0177-6
By:
- Vishal, Mansi;
- Sharma, Anchal;
- Kaurani, Lalit;
- Alfano, Giovanna;
- Mookherjee, Suddhasil;
- Narta, Kiran;
- Agrawal, Jyoti;
- Bhattacharya, Iman;
- Roychoudhury, Susanta;
- Ray, Jharna;
- Waseem, Naushin H.;
- Bhattacharya, Shomi S.;
- Basu, Analabha;
- Sen, Abhijit;
- Ray, Kunal;
- Mukhopadhyay, Arijit
Publication type:
Article
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5827, doi. 10.1093/hmg/ddu276
By:
- Ratnapriya, Rinki;
- Zhan, Xiaowei;
- Fariss, Robert N.;
- Branham, Kari E.;
- Zipprer, David;
- Chakarova, Christina F.;
- Sergeev, Yuri V.;
- Campos, Maria M.;
- Othman, Mohammad;
- Friedman, James S.;
- Maminishkis, Arvydas;
- Waseem, Naushin H.;
- Brooks, Matthew;
- Rajasimha, Harsha K.;
- Edwards, Albert O.;
- Lotery, Andrew;
- Klein, Barbara E.;
- Truitt, Barbara J.;
- Li, Bingshan;
- Schaumberg, Debra A.
Publication type:
Article
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 18, p. 4126, doi. 10.1093/hmg/dds242
By:
- Rose, Anna M.;
- Shah, Amna Z.;
- Waseem, Naushin H.;
- Chakarova, Christina F.;
- Alfano, Giovanna;
- Coussa, Razek G.;
- Ajlan, Radwan;
- Koenekoop, Robert K.;
- Bhattacharya, Shomi S.
Publication type:
Article
Transcriptome Analysis Reveals Vimentin-Induced Disruption of Cell–Cell Associations Augments Breast Cancer Cell Migration.
Published in:
Cells (2073-4409), 2022, v. 11, n. 24, p. 4035, doi. 10.3390/cells11244035
By:
- Usman, Saima;
- Jamal, Ahmad;
- Bushaala, Antesar;
- Waseem, Naushin H.;
- Al-Dehlawi, Hebah;
- Yeudall, William Andrew;
- Teh, Muy-Teck;
- Tummala, Hemanth;
- Waseem, Ahmad
Publication type:
Article
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.
Published in:
Human Mutation, 2014, v. 35, n. 3, p. 289, doi. 10.1002/humu.22482
By:
- Borman, Arundhati Dev;
- Pearce, Laura R.;
- Mackay, Donna S.;
- Nagel‐Wolfrum, Kerstin;
- Davidson, Alice E.;
- Henderson, Robert;
- Garg, Sumedha;
- Waseem, Naushin H.;
- Webster, Andrew R.;
- Plagnol, Vincent;
- Wolfrum, Uwe;
- Farooqi, I. Sadaf;
- Moore, Anthony T.
Publication type:
Article
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 506, doi. 10.1002/humu.22264
By:
- Davidson, Alice E.;
- Sergouniotis, Panagiotis I.;
- Mackay, Donna S.;
- Wright, Genevieve A.;
- Waseem, Naushin H.;
- Michaelides, Michel;
- Holder, Graham E.;
- Robson, Anthony G.;
- Moore, Anthony T.;
- Plagnol, Vincent;
- Webster, Andrew R.
Publication type:
Article
Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.
Published in:
Genes, 2023, v. 14, n. 2, p. 495, doi. 10.3390/genes14020495
By:
- Narta, Kiran;
- Teltumbade, Manoj Ramesh;
- Vishal, Mansi;
- Sadaf, Samreen;
- Faruq, Mohd.;
- Jama, Hodan;
- Waseem, Naushin;
- Rao, Aparna;
- Sen, Abhijit;
- Ray, Kunal;
- Mukhopadhyay, Arijit
Publication type:
Article
Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.
Published in:
British Journal of Haematology, 1999, v. 107, n. 4, p. 766, doi. 10.1046/j.1365-2141.1999.01767.x
By:
- Bagnall, Richard D.;
- Waseem, Naushin H.;
- Green, Peter M.;
- Colvin, Brian;
- Lee, Christine;
- Giannelli, Francesco;
- Giannelli
Publication type:
Article
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Published in:
BMC Medical Genetics, 2010, v. 11, p. 145, doi. 10.1186/1471-2350-11-145
By:
- Audo, Isabelle;
- Bujakowska, Kinga;
- Mohand-Saïd, Saddek;
- Lancelot, Marie-Elise;
- Moskova-Doumanova, Veselina;
- Waseem, Naushin H.;
- Antonio, Aline;
- Sahel, José-Alain;
- Bhattacharya, Shomi S.;
- Zeitz, Christina
Publication type:
Article

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