Mutational analysis and clinical correlation in Leber congenital amaurosis
Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.
Published in Ophthalmic genetics (01.09.2000)
Published in Ophthalmic genetics (01.09.2000)
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Journal Article
Repeatedly washed semen stains: Optimal screening and sampling strategies for DNA analysis
Noël, Sarah, Lagacé, Karine, Raymond, Sylvain, Granger, Dominic, Loyer, Magali, Bourgoin, Sarah, Jolicoeur, Christine, Séguin, Diane
Published in Forensic science international : genetics (01.01.2019)
Published in Forensic science international : genetics (01.01.2019)
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Journal Article
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
Damji, Karim F., MD, Sohocki, Melanie M., PhD, Khan, Ravesh, MB BS, Gupta, Sanjoy K., MD, PhD, Rahim, Musa, MB BS, MHA, Loyer, Magali, MSc, Hussein, Naushad, MD, Karim, Nermin, OD, Ladak, Shenif S., MD, Jamal, Alnoor, MS, Bulman, Dennis, PhD, Koenekoop, Robert K., MD, PhD
Published in Canadian journal of ophthalmology (01.08.2001)
Published in Canadian journal of ophthalmology (01.08.2001)
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Journal Article
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A
Published in American journal of ophthalmology (01.10.2003)
Published in American journal of ophthalmology (01.10.2003)
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Journal Article
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects
Tucker, Chandra L, Ramamurthy, Visvanathan, Pina, Ana-Luisa, Loyer, Magali, Dharmaraj, Sharola, Li, Yingying, Maumenee, Irene H, Hurley, James B, Koenekoop, Robert K
Published in Molecular vision (20.04.2004)
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Published in Molecular vision (20.04.2004)
Journal Article
NovelRPGRmutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A
Published in American journal of ophthalmology (01.10.2003)
Published in American journal of ophthalmology (01.10.2003)
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Journal Article
Visual improvement in Leber congenital amaurosis and the CRX genotype
Koenekoop, Robert K., Loyer, Magali, Dembinska, Olga, Beneish, Raquel
Published in Ophthalmic genetics (2002)
Published in Ophthalmic genetics (2002)
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Journal Article
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis
Silva, Eduardo, Dharmaraj, Sharola, Li, Ying Ying, Pina, Ana Luisa, Carter, Robert Colin, Loyer, Magali, Traboulsi, Elias, Theodossiadis, George, Koenekoop, Robert, Sundin, Olof, Maumenee, Irene
Published in Ophthalmic genetics (01.09.2004)
Published in Ophthalmic genetics (01.09.2004)
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Journal Article
A missense mutation in GUCY2Dacts as a genetic modifier in RPE65-related Leber Congenital Amaurosis
Silva, Eduardo, Dharmaraj, Sharola, Li, Ying Ying, Pina, Ana Luisa, Carter, Robert Colin, Loyer, Magali, Traboulsi, Elias, Theodossiadis, George, Koenekoop, Robert, Sundin, Olof, Maumenee, Irene
Published in Ophthalmic genetics (2004)
Published in Ophthalmic genetics (2004)
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Journal Article
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease
AKERMAN, B. R, NATOWICZ, M. R, KABACK, M. M, LOYER, M, CAMPEAU, E, GRAVEL, R. A
Published in American journal of human genetics (01.05.1997)
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Published in American journal of human genetics (01.05.1997)
Journal Article
Correction of the Metabolic Defect in Propionic Acidemia Fibroblasts by Microinjection of a Full-Length cDNA or RNA Transcript Encoding the Propionyl-CoA Carboxylase β Subunit
Lamhonwah, Anne-Marie, Leclerc, Daniel, Loyer, Magali, Clarizio, Rino, Gravel, Roy A.
Published in Genomics (San Diego, Calif.) (01.02.1994)
Published in Genomics (San Diego, Calif.) (01.02.1994)
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Journal Article
Mutational analysis and clinical correlation in Leber congenital amaurosis
Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.
Published in Ophthalmic genetics (01.01.2000)
Published in Ophthalmic genetics (01.01.2000)
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Journal Article