Výsledky vyhledávání - "Gail Billingsley"

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Autor: Jonathan Karas, Isabelle Audo, Fayçal Zine-Eddine, Erika Tavares, Christina Zeitz, Alexander Pearson, Kit Green-Sanderson, Yuliya Zubak, Gail Billingsley, Michael D. Wilson, Chen Yu Tang, Ajoy Vincent, Anupreet Tumber, Anjali Vig, Antonio Mollica, Shriya Deshmukh, Elise Héon, Matteo Di Scipio, Caberry W. Yu

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2020, 61 (10), pp.36. ⟨10.1167/iovs.61.10.36⟩
Investigative Ophthalmology & Visual Science, 2020, 61 (10), pp.36. ⟨10.1167/iovs.61.10.36⟩

International audience; Purpose: To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic disease causing variants in inherited retinal dystrophies.Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5352df9e05ca74190340c8770fac8c5
https://hal.sorbonne-universite.fr/hal-02940524

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Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome

Autor: Wilson W L Sung, Elise Héon, Anjali Vig, Gail Billingsley, Chen Yu Tang, Bhooma Thiruvahindrapuram, Erika Tavares, Shuning Li, Ajoy Vincent

Publikováno v: Molecular Genetics & Genomic Medicine

Background Bardet‐Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae5fcc72d035260104d20a01dd25cfe
https://doi.org/10.1002/mgg3.521

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Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

Autor: Elise Heon, Gail Billingsley, Ajoy Vincent, Catherine Deveault

Publikováno v: Ophthalmic Genetics. 33:150-154

To assess for SDCCAG8 mutations in Bardet-Biedl syndrome (BBS) subjects with renal involvement and no polydactyly, and to describe phenotypic characteristics of SDCCAG8-related disease.Five patients (from 4 pedigrees) with clinical diagnosis of BBS,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6704b51572e05dcba8140eab7d9953
https://doi.org/10.3109/13816810.2012.689411

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Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation

Autor: Mohsen Hosseini, Elise Héon, Dan Q. Nguyen, Amanda J. Churchill, Gail Billingsley

Publikováno v: Acta Ophthalmologica. 88:695-699

Acta Ophthalmol. 2010: 88: 695–699 Abstract. Purpose: To describe the clinical phenotype in a family with posterior polymorphous corneal dystrophy (PPCD) and a novel mutation in the ZEB1 gene. Methods: Clinical examination, anterior segment photogr

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https://doi.org/10.1111/j.1755-3768.2009.01511.x

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The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Autor: Elise Héon, Philippe Othenin Girard, Gail Billingsley, Nicolette H. Lubsen, Daniel F. Schorderet, Megan Priston, Francis L. Munier

Publikováno v: The American Journal of Human Genetics. 65:1261-1267

Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome 2q33-35, and mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a786536164f43a3b328e38b28abe1c6
https://doi.org/10.1086/302619

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BBS mutational analysis: a strategic approach

Autor: Gail Billingsley, Catherine Deveault, Elise Heon

Publikováno v: Ophthalmic genetics. 32(3)

Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive, clinically and genetically heterogeneous disorder with 15 genes identified. The large amount of coding sequence challenges the cost effectiveness of mutational analysis of BBS.We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d88a4c594178ce949a73abe56dc00012
https://pubmed.ncbi.nlm.nih.gov/21463199

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Publikováno v: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052ada25bb9478f2446a3153115b8e85
https://pubmed.ncbi.nlm.nih.gov/21344540

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Autor: Andrew D. Paterson, Jacque L. Duncan, Koji Ogata, Catherine Deveault, Shoshana S Wodak, Elise Heon, Christina Gerth, Grant A. Mitchell, Tanja Knueppel, David Chitayat, Gail Billingsley, Jenea M. Bin, Gerald A. Fishman, Karen Fieggen, José M. Millán, Elias I. Traboulsi

Publikováno v: Journal of medical genetics. 47(7)

Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8 GTP to the primary cilium and promote ciliogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab8bb50f9efe24ab9aa23fdd51930c5
https://pubmed.ncbi.nlm.nih.gov/20472660

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BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Autor: Jenea M. Bin, W. Ferrini, Gail Billingsley, Jagadeesan Madhavan, Elise Heon, Calvin A. Mok

Publikováno v: Human mutation. 30(7)

Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7

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https://pubmed.ncbi.nlm.nih.gov/19402160

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Further support of the role of CYP1B1 in patients with Peters anomaly

Autor: Andrea, Vincent, Gail, Billingsley, Megan, Priston, Tom, Glaser, Edward, Oliver, Mike, Walter, Robert, Ritch, Alex, Levin, Elise, Heon

Publikováno v: Molecular vision. 12

Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition.The role of four candidate genes implicated in ocular development or glaucoma,

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https://pubmed.ncbi.nlm.nih.gov/16735991

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