| scholarly article | Q13442814 |
| P50 | author | Vasiliki Kalatzis | Q37367292 |
| P2093 | author name string | Isabelle Meunier | |
| Carmen Ayuso | |||
| Christian P Hamel | |||
| Nicolas Cereso | |||
| Valerie De Luca | |||
| Jacques Puechberty | |||
| Franck Pellestor | |||
| Krishna Damodar | |||
| Nejla Erkilic | |||
| Simona Torriano | |||
| Vincent Gatinois | |||
| Carla Sanjurjo-Soriano | |||
| Rocio Sanchez-Alcudia | |||
| Pauline Bouret | |||
| P2860 | cites work | A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation | Q22011110 |
| Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure | Q24546729 | ||
| Disease-specific induced pluripotent stem cells | Q24641981 | ||
| Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly | Q24678235 | ||
| Induced pluripotent stem cell lines derived from human somatic cells | Q27860597 | ||
| Induction of pluripotent stem cells from adult human fibroblasts by defined factors | Q27860967 | ||
| ZIKA virus efficiently replicates in human retinal pigment epithelium and disturbs its permeability | Q27883377 | ||
| Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 | Q28119014 | ||
| Genome instability: a mechanistic view of its causes and consequences | Q28266306 | ||
| Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 | Q28290728 | ||
| A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice | Q28551283 | ||
| cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein | Q28569766 | ||
| Self-organizing optic-cup morphogenesis in three-dimensional culture | Q29616181 | ||
| CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. | Q42051635 | ||
| Karotypic abnormalities in human induced pluripotent stem cells and embryonic stem cells | Q45047169 | ||
| Disruption of HDX gene in premature ovarian failure | Q45245097 | ||
| Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy | Q45871948 | ||
| Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication | Q47835815 | ||
| Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. | Q48390336 | ||
| Mouse Dach2 mutants do not exhibit gross defects in eye development or brain function | Q48654275 | ||
| Cytogenetic Abnormalities Found in Patients with Reproductive Problems | Q50129525 | ||
| Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment | Q50134782 | ||
| Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. | Q50494177 | ||
| Single-base substitutions in the CHM promoter as a cause of choroideremia. | Q50856170 | ||
| Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. | Q52525782 | ||
| New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation. | Q52566534 | ||
| Chromosome instability is common in human cleavage-stage embryos. | Q53398239 | ||
| New type of mutations in three spanish families with choroideremia. | Q54539164 | ||
| Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy. | Q55000684 | ||
| The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy. | Q55025407 | ||
| Identification and Classification of Chromosomal Aberrations in Human Induced Pluripotent Stem Cells | Q56768636 | ||
| Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses | Q57810156 | ||
| Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2 | Q59350264 | ||
| Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa | Q59350598 | ||
| Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium | Q61053743 | ||
| Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly | Q87163468 | ||
| Concise Review: Molecular Cytogenetics and Quality Control: Clinical Guardians for Pluripotent Stem Cells | Q91461009 | ||
| Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy | Q92773929 | ||
| Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis | Q93078250 | ||
| Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells | Q30500891 | ||
| An improved technique for chromosomal analysis of human ES and iPS cells. | Q33781345 | ||
| Generation of retinal cells from mouse and human induced pluripotent stem cells | Q34017132 | ||
| Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos | Q34162210 | ||
| Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia | Q34249600 | ||
| Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product | Q34333966 | ||
| Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | Q34354760 | ||
| Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. | Q34442266 | ||
| Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development | Q34469044 | ||
| Advanced feeder-free generation of induced pluripotent stem cells directly from blood cells | Q34601924 | ||
| Self-formation of optic cups and storable stratified neural retina from human ESCs. | Q34639338 | ||
| APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria | Q34737605 | ||
| Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype. | Q35163395 | ||
| Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient | Q35184151 | ||
| Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects | Q35618559 | ||
| The art and design of genetic screens: mammalian culture cells | Q35670180 | ||
| Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage | Q36266493 | ||
| Culturing Human Pluripotent and Neural Stem Cells in an Enclosed Cell Culture System for Basic and Preclinical Research | Q37053677 | ||
| Pluripotent stem cell lines | Q37234158 | ||
| The promise of human induced pluripotent stem cells for research and therapy | Q37242440 | ||
| Modeling early retinal development with human embryonic and induced pluripotent stem cells | Q37377238 | ||
| Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage | Q37630030 | ||
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. | Q37640927 | ||
| Genetic factors as a cause of miscarriage. | Q37780230 | ||
| Quality control: Genome maintenance in pluripotent stem cells | Q38180443 | ||
| Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal | Q38577052 | ||
| HC Forum: a web site based on an international human cytogenetic database | Q38661632 | ||
| Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs | Q38936740 | ||
| Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration. | Q39791804 | ||
| Human embryonic stem cells reveal recurrent genomic instability at 20q11.21. | Q39912733 | ||
| Recurrent chromosomal abnormalities in human embryonic stem cells | Q39912737 | ||
| Self-renewal of human embryonic stem cells is supported by a shortened G1 cell cycle phase | Q40232134 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 9 | |
| P577 | publication date | 2019-09-11 | |
| P1433 | published in | Cells | Q27724621 |
| P1476 | title | A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia | |
| P478 | volume | 8 |
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