Works about DYSTROPHY
Results: 1929
Adult-onset Foveomacular Vitelliform Dystrophy: a Teaching Case Report.
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- Optometric Education, 2024, v. 49, n. 2, p. 35
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- Article
Butterfly-Shaped Pattern Dystrophy: an Observational Teaching Case Report.
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- Optometric Education, 2021, v. 46, n. 2, p. 1
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- Article
Fetal Akinesia Deformation Sequence and Neuroaxonal Dystrophy without PLA2G6 Mutation.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 6, p. 492, doi. 10.2350/10-01-0782-CR.1
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- Article
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 2, p. 1
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- Article
Laminins in normal, keratoconus, bullous keratopathy and scarred human corneas.
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- Histochemistry & Cell Biology, 2007, v. 127, n. 6, p. 657, doi. 10.1007/s00418-007-0288-4
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- Article
Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies.
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- Histochemistry & Cell Biology, 2007, v. 127, n. 1, p. 115, doi. 10.1007/s00418-006-0228-8
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- Article
Differentiation of original and regenerated skeletal muscle fibres in mdx dystrophic muscles.
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- Histochemistry & Cell Biology, 2002, v. 118, n. 1, p. 19, doi. 10.1007/s00418-002-0428-9
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- Article
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
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- Archives of Dermatological Research, 2010, v. 302, n. 9, p. 701, doi. 10.1007/s00403-010-1035-6
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- Article
Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer.
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- Archives of Dermatological Research, 2010, v. 302, n. 3, p. 169, doi. 10.1007/s00403-009-0997-8
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- Article
Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
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- Archives of Dermatological Research, 2008, v. 300, n. 5, p. 211, doi. 10.1007/s00403-008-0840-7
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- Article
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
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- Archives of Dermatological Research, 2004, v. 295, n. 10, p. 442, doi. 10.1007/s00403-003-0444-1
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- Article
Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family.
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- Ophthalmic Research, 2004, v. 36, n. 2, p. 82, doi. 10.1159/000076886
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- Article
Hereditary Muscular Dystrophy: Bioengineering Approaches to Muscle Fiber Repair.
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- Russian Journal of Developmental Biology, 2005, v. 36, n. 4, p. 256, doi. 10.1007/s11174-005-0041-7
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- Article
Bioaccumulation of Tc, Pu, and Np on Bottom Sediments in Two Types of Freshwater Lakes of the Moscow Oblast.
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- Radiochemistry, 2003, v. 45, n. 3, p. 250, doi. 10.1023/A:1026008108860
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- Article
Anesthetic Management of an Obstetric Patient with Limb-Girdle Muscular Dystrophy: Case Report and Review of the Literature.
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- Acibadem Saglik Bilimleri Dergisi, 2020, v. 11, n. 4, p. 738, doi. 10.31067/0.2020.326
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- Article
Habit Tic Deformity of Bilateral Thumbnails: A Dermoscopic View.
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- Indian Journal of Dermatopathology & Diagnostic Dermatology, 2022, v. 9, n. 1, p. 31, doi. 10.4103/ijdpdd.ijdpdd_78_21
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- Article
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
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- Human Genetics, 2022, v. 141, n. 7, p. 1253, doi. 10.1007/s00439-021-02398-6
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- Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 785, doi. 10.1007/s00439-021-02303-1
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- Article
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
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- Human Genetics, 2021, v. 140, n. 8, p. 1143, doi. 10.1007/s00439-021-02284-1
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- Article
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
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- Human Genetics, 2020, v. 139, n. 11, p. 1391, doi. 10.1007/s00439-020-02182-y
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- Article
Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.
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- Sports (2075-4663), 2019, v. 7, n. 3, p. 64, doi. 10.3390/sports7030064
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- Article
Complex Regional Pain Syndrome in the Head and Neck: A Review of the Literature.
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- Journal of Orofacial Pain, 2002, v. 16, n. 2, p. 93
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- Article
The Role of Sympathetic Activity in Neuropathic Orofacial Pain.
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- Journal of Orofacial Pain, 1996, v. 10, n. 4, p. 297
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- Article
Maxillary Implant Prosthodontic Treatment Using Digital Laboratory Protocol for a Patient with Epidermolysis Bullosa: A Case History Report.
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- 2017
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- Publication type:
- journal article
Complex Regional Pain Syndrome Type I after Diphtheria-Tetanus (Di-Te) Vaccination.
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- Collegium Antropologicum, 2013, v. 37, n. 3, p. 1015
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- Article
Oral quercetin administration transiently protects respiratory function in dystrophin-deficient mice.
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- Journal of Physiology, 2016, v. 594, n. 20, p. 6037, doi. 10.1113/JP272057
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- Article
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
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- Journal of Physiology, 2013, v. 591, n. 2, p. 571, doi. 10.1113/jphysiol.2012.241760
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- Article
Spatial Resilience of a Lagoon Ecosystem: The Case of the El Mellah Lagoon (Northeastern Algeria).
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- Egyptian Journal of Aquatic Biology & Fisheries, 2024, v. 28, n. 5, p. 331, doi. 10.21608/ejabf.2024.378877
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- Article
Bardet Biedl syndrome - a rare case report from North Karnataka.
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- 2013
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- Case Study
Autopsy case of desminopathy involving skeletal and cardiac muscle.
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- Pathology International, 2007, v. 57, n. 1, p. 32, doi. 10.1111/j.1440-1827.2007.02053.x
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- Article
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.
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- Experimental Dermatology, 1999, v. 8, n. 2, p. 109, doi. 10.1111/j.1600-0625.1999.tb00356.x
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- Article
Hemidesmosomal variants of epidermolysis bullosa.
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- Experimental Dermatology, 1998, v. 7, n. 2/3, p. 46, doi. 10.1111/j.1600-0625.1998.tb00304.x
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- Article
Plectin and human genetic disorders of the skin and muscle.
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- Experimental Dermatology, 1996, v. 5, n. 5, p. 237, doi. 10.1111/j.1600-0625.1996.tb00124.x
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- Article
Occupational allergic contact dermatitis to hydroxyethyl methacrylate (2-HEMA) in a manicurist.
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- Contact Dermatitis (01051873), 2009, v. 61, n. 1, p. 48, doi. 10.1111/j.1600-0536.2009.01546.x
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- Article
Irritant paronychia with onychodystrophy caused by cyanoacrylate nail glue.
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- Contact Dermatitis (01051873), 2003, v. 48, n. 5, p. 274, doi. 10.1034/j.1600-0536.2003.00105.x
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- Article
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77441-3
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- Article
O USO DE BIOSTIMULANTE PARA AUMENTAR O GANHO DE PESO CORPORAL DE FRANGOS.
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- Periódico Tchê Química, 2020, v. 17, n. 35, p. 800
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- Article
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.
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- Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 122, doi. 10.3390/biom14010122
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- Article
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65 -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
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- Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1484, doi. 10.3390/biom13101484
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- Article
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.
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- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 271, doi. 10.3390/biom13020271
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- Article
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.
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- Biomolecules (2218-273X), 2021, v. 11, n. 3, p. 367, doi. 10.3390/biom11030367
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- Article
Zebrafish Models of Photoreceptor Dysfunction and Degeneration.
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- Biomolecules (2218-273X), 2021, v. 11, n. 1, p. 78, doi. 10.3390/biom11010078
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- Article
Characterization of the Interaction of Neuropathy Target Esterase with the Endoplasmic Reticulum and Lipid Droplets.
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- Biomolecules (2218-273X), 2019, v. 9, n. 12, p. 848, doi. 10.3390/biom9120848
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- Article
Sleep in Neurology.
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- 2006
- Publication type:
- Abstract
ROYAL SOCIETY OF MEDICINE SECTION OF DERMATOLOGY.
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- British Journal of Dermatology, 1956, v. 68, n. 10, p. 336
- Publication type:
- Article
CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FORMATION AND PROGRESSIVE CUTANEOUS ATROPHY.
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- British Journal of Dermatology, 1954, v. 66, n. 3, p. 104, doi. 10.1111/j.1365-2133.1954.tb12598.x
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- Article
ON ELASTASE AND THE ELASTIC DYSTROPHIES OF THE SKIN.
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- British Journal of Dermatology, 1954, v. 66, n. 1, p. 16, doi. 10.1111/j.1365-2133.1954.tb12553.x
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- Article
Dystrophy of Oligodendrocytes and Adjacent Microglia in Prefrontal Gray Matter in Schizophrenia.
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- Frontiers in Psychiatry, 2020, p. 1, doi. 10.3389/fpsyt.2020.00204
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- Article
Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice.
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- Clinical & Experimental Immunology, 2013, v. 171, n. 3, p. 263, doi. 10.1111/cei.12024
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- Article
Down Syndrome, Alopecia Universalis, and Trachyonychia.
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- Pediatric Dermatology, 1993, v. 10, n. 2, p. 187, doi. 10.1111/j.1525-1470.1993.tb00052.x
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- Publication type:
- Article