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1. Full Text Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
by Perrault, Isabelle and Hanein, Sylvain and Zanlonghi, Xavier and Serre, Valérie and Nicouleau, Michael and Defoort-Delhemmes, Sabine and Delphin, Nathalie and Fares-Taie, Lucas and Gerber, Sylvie and Xerri, Olivia and Edelson, Catherine and Goldenberg, Alice and Duncombe, Alice and Le Meur, Gylã̈ne and Hamel, Christian and Silva, Eduardo and Nitschke, Patrick and Calvas, Patrick and Munnich, Arnold and Roche, Olivier and Dollfus, Hélène and Kaplan, Josseline and Rozet, Jean-Michel
Nature genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 975 - 977
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Retinopathies | Diseases of visual field, optic nerve, optic chiasma and optic tracts | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Severity of Illness Index | Genetic Predisposition to Disease | Optic Atrophy - complications | Humans | Macular Degeneration - complications | Child, Preschool | Polymorphism, Single Nucleotide - physiology | Leber Congenital Amaurosis - genetics | Leber Congenital Amaurosis - complications | Young Adult | Mutation - physiology | Optic Atrophy - epidemiology | Macular Degeneration - genetics | Adolescent | Age of Onset | Macular Degeneration - epidemiology | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Adult | Child | Leber Congenital Amaurosis - epidemiology | Cohort Studies | Optic Atrophy - genetics | Optic atrophy | Gene mutations | Patient outcomes | Development and progression | Genetic aspects | Leber's congenital amaurosis | Health aspects | Risk factors | Proteins | Genealogy | Disease | Insects | Genes | Genetics | Retina | Genomes | Mutation | Index Medicus
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2. Full Text Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
by Gerber, Sylvie and Alzayady, Kamil J and Burglen, Lydie and Brémond-Gignac, Dominique and Marchesin, Valentina and Roche, Olivier and Rio, Marlène and Funalot, Benoit and Calmon, Raphaël and Durr, Alexandra and Gil-da-Silva-Lopes, Vera Lucia and Ribeiro Bittar, Maria Fernanda and Orssaud, Christophe and Héron, Bénédicte and Ayoub, Edward and Berquin, Patrick and Bahi-Buisson, Nadia and Bole, Christine and Masson, Cécile and Munnich, Arnold and Simons, Matias and Delous, Marion and Dollfus, Helene and Boddaert, Nathalie and Lyonnet, Stanislas and Kaplan, Josseline and Calvas, Patrick and Yule, David I and Rozet, Jean-Michel and Fares Taie, Lucas
American journal of human genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, Recessive - genetics | Humans | Aniridia - etiology | Cerebellar Ataxia - etiology | Intellectual Disability - pathology | Child, Preschool | Infant | Male | Cerebellar Ataxia - pathology | Mutation - genetics | Aniridia - pathology | Pedigree | Adolescent | Female | Intellectual Disability - etiology | Child | Genes, Dominant - genetics | Infant, Newborn | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Genetic disorders | Mutation | Intellectual disabilities | Genes | Index Medicus | Report
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3. Full Text ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
by Fares-Taie, Lucas and Gerber, Sylvie and Chassaing, Nicolas and Clayton-Smith, Jill and Hanein, Sylvain and Silva, Eduardo and Serey, Margaux and Serre, Valérie and Gérard, Xavier and Baumann, Clarisse and Plessis, Ghislaine and Demeer, Bénédicte and Brétillon, Lionel and Bole, Christine and Nitschke, Patrick and Munnich, Arnold and Lyonnet, Stanislas and Calvas, Patrick and Kaplan, Josseline and Ragge, Nicola and Rozet, Jean-Michel
American journal of human genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 265 - 270
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Introns - genetics | Genes, Recessive - genetics | Microphthalmos - genetics | Humans | Aldehyde Dehydrogenase - genetics | Exons - genetics | Male | Mutant Proteins - metabolism | Anophthalmos - enzymology | Mutation - genetics | Sequence Analysis, DNA | Anophthalmos - genetics | Homozygote | Pedigree | HEK293 Cells | Microphthalmos - enzymology | Aldehyde Oxidoreductases | Female | Chromosome Segregation - genetics | Genetic Linkage | Gene mutations | Causes of | Diagnosis | Research | Nucleotide sequencing | Gene expression | Anophthalmos | DNA sequencing | Enzymes | Genetic aspects | Aldehydes | Medical genetics | Tretinoin | Amino acids | Mutation | Protein synthesis | Eyes & eyesight | Index Medicus | Eye | Heart | Missense mutation | Anophthalmia | Open reading frames | Gene mapping | Aldehyde dehydrogenase | Retinoic acid | Microphthalmia | Report
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4. Full Text Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”
by Ragge, Nicola and Calvas, Patrick and Chassaing, Nicolas
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 793 - 793
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Developmental Disabilities - pathology | Developmental Disabilities - genetics | Eye Diseases - genetics | Eye Diseases - pathology | Humans | Molecular genetics | Eye diseases | Genetic aspects | Eye disorders | Index Medicus
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5. Full Text Through the looking glass: eye anomalies in the age of molecular science
by Calvas, Patrick and Traboulsi, Elias I and Ragge, Nicola
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 795 - 798
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye - pathology | Molecular Biology - trends | Eye Abnormalities - pathology | Eye Abnormalities - genetics | Humans | Index Medicus
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6. Full Text Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
by Bomont, Pascale and Barbot, Clara and Németh, Andrea H and M'Zahem, Abderrahim and Benhassine, Traki and Aubourg, Patrick and Schöls, Lüdger and Calvas, Patrick and Koenig, Michel and Tanaka, Makoto and Dürr, Alexandra and Sequeiros, Jorge and Coutinho, Paula and Brice, Alexis and Bouslam, Naïma and Mendonça, Pedro and Stevanin, Giovanni and Tazir, Meriem and Ber, Isabelle Le and Klur, Sandra and Pandolfo, Massimo and Dunne, Eimear and Moniz, José-Carlos and Warter, Jean-Marie and Watanabe, Mitsunori and Schulz, Jörg B and Moreira, Maria-Céu and Shaw, Christopher E and Tranchant, Christine and Guimarães, João and Shizuka-Ikeda, Masami and Shoji, Mikio and Pouget, Jean and Izatt, Louise
Nature genetics, ISSN 1061-4036, 03/2004, Volume 36, Issue 3, pp. 225 - 227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurology | Biological and medical sciences | Nervous system as a whole | Medical sciences | Nervous system (semeiology, syndromes) | Cerebellar Ataxia - genetics | Humans | RNA Helicases - genetics | Chromosome Mapping | Chromosomes, Human, Pair 9 | Fungal Proteins - genetics | Mutation | Saccharomyces cerevisiae Proteins - genetics | Ocular Motility Disorders - genetics | alpha-Fetoproteins - metabolism | Complications and side effects | Gene mutations | Physiological aspects | Ataxia | Genetic aspects | Diagnosis | Research | Helicases | Risk factors | Index Medicus
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7. Full Text Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
by Williamson, Kathleen A and Hall, H. Nikki and Owen, Liusaidh J and Livesey, Benjamin J and Hanson, Isabel M and Adams, G.G.W and Bodek, Simon and Calvas, Patrick and Castle, Bruce and Clarke, Michael and Deng, Alexander T and Edery, Patrick and Fisher, Richard and Gillessen-Kaesbach, Gabriele and Heon, Elise and Hurst, Jane and Josifova, Dragana and Lorenz, Birgit and McKee, Shane and Meire, Francoise and Moore, Anthony T and Parker, Michael and Reiff, Charlotte M and Self, Jay and Tobias, Edward S and Verheij, Joke B. G. M and Willems, Marjolaine and Williams, Denise and van Heyningen, Veronica and Marsh, Joseph A and FitzPatrick, David R
Genetics in medicine, ISSN 1098-3600, 03/2020, Volume 22, Issue 3, pp. 598 - 609
protein destabilization | PAX6 | microphthalmia | missense variant | paired domain | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Binding sites | Index Medicus
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8. Full Text Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
by Grelet, Maude and Blanck, Véronique and Sigaudy, Sabine and Philip, Nicole and Giuliano, Fabienne and Khachnaoui, Khaoula and Morel, Godelieve and Grotto, Sarah and Sophie, Julia and Poirsier, Céline and Lespinasse, James and Alric, Laurent and Calvas, Patrick and Chalhoub, Gihane and Layet, Valérie and Molin, Arnaud and Colson, Cindy and Marsili, Luisa and Edery, Patrick and Lévy, Nicolas and De Sandre-Giovannoli, Annachiara
Orphanet journal of rare diseases, ISSN 1750-1172, 12/2019, Volume 14, Issue 1, pp. 288 - 288
Panel | Pathogenic,variant | Progeroid | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Medical research | Analysis | Genes | Genomics | Medical genetics | Medicine, Experimental | Nucleotide sequencing | DNA sequencing | Disease | Laboratories | Genomes | Patients | Genetic screening | Progeroid syndromes | Connective tissues | Proteins | Next-generation sequencing | Databases | Classification | Aging | Genetics | Software | Mutation | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus
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9. Full Text Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
by Marelli, Cecilia and Guissart, Claire and Hubsch, Cecile and Renaud, Mathilde and Villemin, Jean‐Philippe and Larrieu, Lise and Charles, Perrine and Ayrignac, Xavier and Sacconi, Sabrina and Collignon, Patrick and Cuntz‐Shadfar, Danielle and Perrin, Laurine and Benarrosh, Anelia and Degardin, Adrian and Lagha‐Boukbiza, Ouhaïd and Mutez, Eugenie and Carlander, Bertrand and Morales, Raul Juntas and Gonzalez, Victoria and Carra‐Dalliere, Clarisse and Azakri, Souhayla and Mignard, Claude and Ollagnon, Elisabeth and Pageot, Nicolas and Chretien, Dominique and Geny, Christian and Azulay, Jean‐Philippe and Tranchant, Christine and Claustres, Mireille and Labauge, Pierre and Anheim, Mathieu and Goizet, Cyril and Calvas, Patrick and Koenig, Michel
Human mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1340 - 1353
exome sequencing | ataxia | mini‐exome | copy number variations | molecular diagnosis | trinucleotide repeat expansion | mini-exome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Peroxisomal Multifunctional Protein-2 - genetics | Cerebellar Ataxia - etiology | Child, Preschool | Male | DNA-Binding Proteins - genetics | DNA Copy Number Variations | Membrane Glycoproteins - genetics | Exome | Young Adult | Carrier Proteins - genetics | Cerebellar Ataxia - genetics | Adolescent | Age of Onset | Adult | Female | Ataxia Telangiectasia Mutated Proteins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Genetic research | Genetic aspects | Information management | Analysis | Genes | Ataxia | Genetic disorders | Algorithms | Mutation | Genomics | Index Medicus | Life Sciences | Genetics | Human genetics
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10. Full Text Axial Length of Myopia: A Review of Current Research
by Meng, Weihua and Butterworth, Jacqueline and Malecaze, François and Calvas, Patrick
Ophthalmologica (Basel), ISSN 0030-3755, 03/2011, Volume 225, Issue 3, pp. 127 - 134
EURETINA - Review | Axial length | Genetics | Myopia | Refractive error | Endophenotype | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Vision disorders | Biological and medical sciences | Miscellaneous | Medical sciences | Myopia - genetics | Animals | Prevalence | Axial Length, Eye - pathology | Humans | Myopia - diagnosis | Biomedical Research | Disease Models, Animal | Myopia - epidemiology | Index Medicus
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