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61 results for CEP290+gene

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ArticlesPeer ReviewedFull Text
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Author / Creator:Zhang, Rui ; Chen, Shaoyun ; Han, Peng ; Chen, Fangfang ; Kuang, Shan ; Meng, Zhuo ; Liu, Junnian ; Sun, Ruliang ; Wang, Zhiwei ; He, Xiaohong ; Li, Yong ; Guan, Yuanning ; Yue, Zhengfang ; Li, Chen ; Kumar Dey, Subrata ; Zhu, Yuanfang ; Banerjee, Santasree
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2020-01, Vol.24 (2), p.1906-1916
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ArticlesPeer ReviewedFull Text
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
Author / Creator:Burnight, E R ; Wiley, L A ; Drack, A V ; Braun, T A ; Anfinson, K R ; Kaalberg, E E ; Halder, J A ; Affatigato, L M ; Mullins, R F ; Stone, E M ; Tucker, B A
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2014-07, Vol.21 (7), p.662-672
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ArticlesPeer ReviewedFull Text
124. Therapeutic Correction of an LCA-Causing Splice Defect in the CEP290 Gene by CRISPR/Cas-Mediated Gene Editing
Author / Creator:Maeder, Morgan L. ; Mepani, Rina ; Gloskowski, Sebastian ; Skor, Maxwell ; Collins, McKensie ; Shen, Shen ; Gotta, Gregory ; Marco, Eugenio ; Barrera, Luis ; Jayaram, Hari ; Bumcrot, David
Publisher:Elsevier Inc
Journal title:Molecular therapy, 2016-05, Vol.24, p.S51-S52
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ArticlesPeer ReviewedFull Text
Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing
Author / Creator:Khamis, Khamis ; Abd al-Qadir, al-Badri ; al-Sahlawi, Muthanna ; al-Turki, Lulwah ; Ahmad, Wasim
Publisher:Riyadh, Saudi Arabia: Saudi Center for Organ Transplantation
Journal title:Saudi journal of kidney diseases and transplantation, 2019-07, Vol.30 (4), p.964-968
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ArticlesPeer ReviewedFull Text
687. Therapeutic Correction of an LCA-Causing Splice Defect in the CEP290 Gene by CRISPR/Cas-Mediated Genome Editing
Author / Creator:Maeder, Morgan L. ; Shen, Shen ; Burnight, Erin R. ; Gloskowski, Sebastian ; Mepani, Rina ; Friedland, Ari E. ; Jayaram, Hari ; Gotta, Greg ; Tucker, Budd A. ; Bumcrot, David
Publisher:Elsevier Inc
Journal title:Molecular therapy, 2015-05, Vol.23, p.S273-S274
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ReportsFull Text
Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing
Author / Creator:Abdelgadir, Elbadri ; Al Sahlawi, Muthana ; Al Turki, Lulwah ; Khamees, Khamess ; Ahmed, Wasim
Journal title:Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2019, Vol.30 (4), p.964-968
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Newsletter articlesFull Text
Diseases and Conditions - Meckel Syndrome; Researchers at University of Jinan Report Findings in Meckel Syndrome (Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Mec...
Publisher:Atlanta: NewsRx
Journal title:Genomics & Genetics Weekly, 2020, p.5765
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Newsletter articlesFull Text
Researchers at University of Jinan Report Findings in Meckel Syndrome (Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome)
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2020, p.5765
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Newsletter articlesFull Text
New Joubert Syndrome Findings from King Abdulaziz Hospital Outlined (Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2019, p.3539
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Newsletter articlesFull Text
Findings from University of Pennsylvania Reveals New Findings on Blindness (Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene)
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2017, p.622
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Newsletter articlesFull Text
Reports on Blindness from University of Pennsylvania Provide New Insights (Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene)
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2017, p.1121
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Newsletter articlesFull Text
Vision Disorders; Investigators from University of Iowa Have Reported New Data on Genetics and Blindness (CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype)
Publisher:Atlanta: NewsRx
Journal title:Gene Therapy Weekly, 2014, p.9
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ArticlesPeer ReviewedFull Text
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
Author / Creator:Maeder, Morgan L. ; Stefanidakis, Michael ; Wilson, Christopher J. ; Baral, Reshica ; Barrera, Luis Alberto ; Bounoutas, George S. ; Bumcrot, David ; Chao, Hoson ; Ciulla, Dawn M. ; DaSilva, Jennifer A. ; Dass, Abhishek ; Dhanapal, Vidya ; Fennell, Tim J. ; Friedland, Ari E. ; Giannoukos, Georgia ; Gloskowski, Sebastian W. ; Glucksmann, Alexandra ; Gotta, Gregory M. ; Jayaram, Hariharan ; Haskett, Scott J. ; Hopkins, Bei ; Horng, Joy E. ; Joshi, Shivangi ; Marco, Eugenio ; Mepani, Rina ; Reyon, Deepak ; Ta, Terence ; Tabbaa, Diana G. ; Samuelsson, Steven J. ; Shen, Shen ; Skor, Maxwell N. ; Stetkiewicz, Pam ; Wang, Tongyao ; Yudkoff, Clifford ; Myer, Vic E. ; Albright, Charles F. ; Jiang, Haiyan
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2019-02, Vol.25 (2), p.229-233
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ArticlesPeer ReviewedFull Text
CEP104 and CEP290 ; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families
Author / Creator:Khoshbakht, Shahrouz ; Beheshtian, Maryam ; Fattahi, Zohreh ; Bazazzadegan, Niloofar ; Parsimehr, Elham ; Fadaee, Mahsa ; Vazehan, Raheleh ; Faraji Zonooz, Mehrshid ; Abolhassani, Ayda ; Makvand, Mina ; Kariminejad, Ariana ; Celik, Arzu ; Kahrizi, Kimia ; Najmabadi, Hossein
Publisher:Tehran: Academy of Medical Sciences of I.R. Iran
Journal title:Archives of Iranian medicine, 2021-05, Vol.24 (5), p.364-373
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CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10
Author / Creator:Ruan, Guo-Xiang ; Barry, Elizabeth ; Yu, Dan ; Lukason, Michael ; Cheng, Seng H. ; Scaria, Abraham
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2017-02, Vol.25 (2), p.331-341
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ArticlesPeer ReviewedFull Text
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
Author / Creator:Wang, Xiang ; Zhang, Zhu ; Zhang, Xueguang ; Shen, Ying ; Liu, Hongqian
Publisher:London: BioMed Central
Journal title:Human genomics, 2020-06, Vol.14 (1), p.1-26, Article 26
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ArticlesPeer ReviewedFull Text
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
Author / Creator:Cheng, Yu-Zhu ; Eley, Lorraine ; Hynes, Ann-Marie ; Overman, Lynne M. ; Simms, Roslyn J. ; Barker, Amy ; Dawe, Helen R. ; Lindsay, Susan ; Sayer, John A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-09, Vol.7 (9), p.e44975-e44975
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ArticlesPeer ReviewedFull Text
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Author / Creator:Skorczyk-Werner, Anna ; Niedziela, Zuzanna ; Stopa, Marcin ; Krawczyński, Maciej Robert
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.345-345, Article 345
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ArticlesPeer ReviewedFull Text
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Author / Creator:Russell, Stephen R. ; Drack, Arlene V. ; Cideciyan, Artur V. ; Jacobson, Samuel G. ; Leroy, Bart P. ; Van Cauwenbergh, Caroline ; Ho, Allen C. ; Dumitrescu, Alina V. ; Han, Ian C. ; Martin, Mitchell ; Pfeifer, Wanda L. ; Sohn, Elliott H. ; Walshire, Jean ; Garafalo, Alexandra V. ; Krishnan, Arun K. ; Powers, Christian A. ; Sumaroka, Alexander ; Roman, Alejandro J. ; Vanhonsebrouck, Eva ; Jones, Eltanara ; Nerinckx, Fanny ; De Zaeytijd, Julie ; Collin, Rob W. J. ; Hoyng, Carel ; Adamson, Peter ; Cheetham, Michael E. ; Schwartz, Michael R. ; den Hollander, Wilhelmina ; Asmus, Friedrich ; Platenburg, Gerard ; Rodman, David ; Girach, Aniz
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2022-05, Vol.28 (5), p.1014-1021
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ArticlesPeer ReviewedFull Text
An early onset cone dystrophy due to CEP290 mutation: a case report
Author / Creator:Binder, Anastasia ; Kohl, Susanne ; Grasshoff, Ute ; Schäferhoff, Karin ; Stingl, Katarina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2023-12, Vol.147 (3), p.203-209
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Showing 1 to 20 of 61 results

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Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

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CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

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124. Therapeutic Correction of an LCA-Causing Splice Defect in the CEP290 Gene by CRISPR/Cas-Mediated Gene Editing

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Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing

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687. Therapeutic Correction of an LCA-Causing Splice Defect in the CEP290 Gene by CRISPR/Cas-Mediated Genome Editing

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Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing

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Diseases and Conditions - Meckel Syndrome; Researchers at University of Jinan Report Findings in Meckel Syndrome (Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Mec...

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Researchers at University of Jinan Report Findings in Meckel Syndrome (Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome)

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New Joubert Syndrome Findings from King Abdulaziz Hospital Outlined (Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing...

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Findings from University of Pennsylvania Reveals New Findings on Blindness (Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene)

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Reports on Blindness from University of Pennsylvania Provide New Insights (Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene)

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Vision Disorders; Investigators from University of Iowa Have Reported New Data on Genetics and Blindness (CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype)

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Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

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CEP104 and CEP290 ; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families

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CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10

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Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

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Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

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An early onset cone dystrophy due to CEP290 mutation: a case report

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