Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Anupreet Tumber"'
Autor:
Eman Saleh, Monika Grudzinska Pechhacker, Anjali Vig, Maanik Mehta, Jason Maynes, Anupreet Tumber, Erika Tavares, Ajoy Vincent, Kamiar Mireskandari, Elise Heon
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 26:202-205
Unilateral cataract can cause pediatric vision impairment. Although the majority of unilateral cataracts are idiopathic in nature, genetic causes have been reported. We present the case of a 4-week-old child of nonconsanguineous parents who was affec
Autor:
Brian G. Ballios, Amarilla Mandola, Alaa Tayyib, Anupreet Tumber, Jenny Garkaby, Linda Vong, Elise Heon, Chaim M. Roifman, Ajoy Vincent
Publikováno v:
Eye.
Autor:
Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Elena Freri, Laura Canafoglia, Alfredo D’Aniello, Giancarlo Di Gennaro, Gabriele Massimetti, Carlo Minetti, Federico Zara, Roberto Michelucci, Anupreet Tumber, Ajoy Vincent, Berge Arakel Minassian, Pasquale Striano
Publikováno v:
Journal of Neurology. 269:3597-3604
Background Lafora disease (LD) is a neurodegenerative disorder featuring action and stimulus-sensitive myoclonus, epilepsy, and cognitive deterioration. Mutations in the EPM2A/EPM2B genes classically prove causative for the disease in most cases. Sin
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology.
Vitamin A plays a crucial role in rod phototransduction, with deficient levels manifesting as night blindness. Animal models have demonstrated bone dysplasia in the setting of hypovitaminosis A. We present a rare case of bony overgrowth leading to bi
Autor:
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K. Grudzinska‐Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl‐Wagner, Eva Mamak, Georg Hoffmann, Christian R. Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent
Publikováno v:
Clinical geneticsREFERENCES. 102(6)
Non-syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod and cone photoreceptors, often leading to blindness. The evolving association of syndromic
Autor:
Ajoy Vincent, Kashif Ahmed, Rowaida Hussein, Zorana Berberovic, Anupreet Tumber, Xiaochu Zhao, Berge A. Minassian
Publikováno v:
Genes. 14:854
Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates termed Lafora bodies (LBs). This study aimed to characterize the retinal phe
Autor:
Erika Tavares, Monika K Grudzinska Pechhacker, Nicole M. Roslin, Anjali Vig, Ajoy Vincent, Elise Héon, Matteo Di Scipio, Anupreet Tumber
Publikováno v:
Ophthalmic Genetics. 41:457-464
S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in CRB1 gene...
Autor:
Anupreet Tumber, Eoghan Millar, Kit Green Sanderson, Neal Sondheimer, Ajoy Vincent, Regan Klatt
Publikováno v:
Documenta Ophthalmologica. 142:111-118
To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). The proband, a male child of Indian descent, underwent serial systemic and ophthalmologica
Autor:
Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Publikováno v:
Investigative Ophthalmology and Visual Science, vol 62, iss 15
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
PURPOSE. The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. METHODS. Patients were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812f62ba93f17ebe71aafaf621e64e9
https://escholarship.org/uc/item/4f15j5sp
https://escholarship.org/uc/item/4f15j5sp
Autor:
Zhuo, Shao, Ikuo, Masuho, Anupreet, Tumber, Jason T, Maynes, Erika, Tavares, Asim, Ali, Stacy, Hewson, Andreas, Schulze, Peter, Kannu, Kirill A, Martemyanov, Ajoy, Vincent
Publikováno v:
Genes
Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes is a diagnostic conundrum in clinical genetics. This study investigated the pathogenicity of a homozygous missense variant in GNB5 (GNB5L; NM_016194.4: c.920T > G (p. Leu30