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Brain, ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2012, Volume 53, Issue 12, pp. 7608 - 7617
Journal Article
Genetics and Molecular Research, ISSN 1676-5680, 11/2013, Volume 12, Issue 4, pp. 5758 - 5765
A large herd of Nellore cattle was evaluated using indepth pedigree analyses. Taking into account the incomplete pedigree due to the use of multiple young... 
Inbreeding | Population structure | Effective population size | Probability of gene origin | Bos indicus cattle | BIOCHEMISTRY & MOLECULAR BIOLOGY | CATTLE | MODEL | GENETIC-VARIABILITY | INCOMPLETE PEDIGREES | LARGE POPULATIONS | GENETICS & HEREDITY | COEFFICIENTS | BREEDS | Genetic Variation | Animals | Pedigree | Cattle - genetics | Crosses, Genetic
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 03/2014, Volume 231, Issue 3, pp. 216 - 221
Zusammenfassung Die Lebersche hereditare Optikusneuropathie ist eine seltene erbliche Erkrankung der retinalen Ganglienzellen und fuhrt innerhalb von Wochen... 
CENTRAL SCOTOMA | Lebersche hereditare Optikus-Neuropathie | CLINICAL EXPRESSION | MITOCHONDRIAL-DNA MUTATION | VISUAL RECOVERY | mitochondrial disease | Genetik | mitochondriale Erkrankung | LARGE BRAZILIAN PEDIGREE | COMPLEX-I | LHON | TOO OLD | OPHTHALMOLOGY | Genetics | LATE-ONSET | DYSFUNCTION | Lebers hereditary optic neuropathy | MTDNA MUTATIONS
Journal Article
Current Treatment Options in Neurology, ISSN 1092-8480, 02/2011, Volume 13, Issue 1, pp. 109 - 117
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease with variable penetrance. Three primary mitochondrial DNA mutations,... 
FIBER LAYER EVALUATION | LARGE BRAZILIAN PEDIGREE | IDEBENONE | VISUAL RECOVERY | ASYMPTOMATIC CARRIERS | DYSFUNCTION | MUTATIONS | MITOCHONDRIAL-DNA | EXPRESSION | COHERENCE TOMOGRAPHY | CLINICAL NEUROLOGY | Mitochondrial DNA | Optic atrophy | Ophthalmology | Blindness
Journal Article
DRUGS OF THE FUTURE, ISSN 0377-8282, 02/2010, Volume 35, Issue 2, pp. 129 - 133
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by devastating visual loss, usually in young adults. The typical... 
11778 MUTATION | FIBER LAYER EVALUATION | LARGE BRAZILIAN PEDIGREE | LHON | COLOR-VISION DEFECTS | VISUAL RECOVERY | PHARMACOLOGY & PHARMACY | ASYMPTOMATIC CARRIERS | CYBRIDS | COHERENCE TOMOGRAPHY
Journal Article
Journal Article
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 42 - 42
Background: Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is... 
Large deletions | Complement factor I | Diagnostic flowchart | Recurrent infections | C3 consumption | Complement deficiency | MOLECULAR CHARACTERIZATION | GLOMERULONEPHRITIS | MEDICINE, RESEARCH & EXPERIMENTAL | HEMOLYTIC-UREMIC SYNDROME | FACTOR-H-AUTOANTIBODIES | INACTIVATOR | HEREDITARY | DISEASE | DYSREGULATION | GENETICS & HEREDITY | FUNCTIONAL ANALYSES | Recurrence | Exons | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Male | Complement Factor I - deficiency | Bacterial Infections - complications | Complement C3 - deficiency | Bacterial Infections - immunology | Gene Deletion | Genetic Diseases, Inborn - complications | Adult | Female | Child | Complement C3 - genetics | Genetic Diseases, Inborn - diagnosis | Complement C4 - metabolism | Complement C3 - metabolism | Genetic Diseases, Inborn - immunology | Complement Factor I - genetics | Complement C3 - immunology | Spain | Homozygote | Pedigree | Family | Heterozygote | Mutation | Usage | Gene mutations | Complement deficiency (Immunology) | Genetic aspects | Nucleotide sequencing | Research | Diagnosis | Health aspects | Risk factors | DNA sequencing | Infection | Bacterial infections | Genes | Thrombin | Medical research | Immunoassay | Pneumonia | Disease | Infections | Manuscripts | Defects | Proteins | Studies | Genetics | Autoimmune diseases | Age
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 4, p. e94851
Journal Article