Works matching Albinism and genetics
Results: 192
Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse.
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- Pigment Cell & Melanoma Research, 2021, v. 34, n. 4, p. 786, doi. 10.1111/pcmr.12982
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- Article
Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective.
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- Pakistan Journal of Medical Research, 2015, v. 54, n. 1, p. 33
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- Article
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
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- Article
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
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- Genes, 2023, v. 14, n. 1, p. 135, doi. 10.3390/genes14010135
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- Article
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
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- Article
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
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- 2024
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- Case Study
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.715437
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- Article
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.
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- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00397
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- Article
Clinical and Molecular Genetic Characteristics of Patients with Oculocutaneous Albinism Type 1.
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- Russian Journal of Genetics, 2022, v. 58, n. 4, p. 485, doi. 10.1134/S1022795422040056
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- Article
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52763-y
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- Article
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
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- Prenatal Diagnosis, 2006, v. 26, n. 5, p. 466, doi. 10.1002/pd.1439
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- Article
Comprehensive Review of the Genetics of Albinism.
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- Journal of Visual Impairment & Blindness, 2018, v. 112, n. 6, p. 683, doi. 10.1177/0145482X1811200604
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- Article
Albinism in the South African Negro. III. Genetic counselling issues.
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- 1984
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- Publication type:
- journal article
Insights into the physiological, molecular, and genetic regulators of albinism in Camellia sinensis leaves.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1219335
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- Article
Oculocutaneous albinism in southern Africa: Population structure, health and genetic care.
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- Annals of Human Biology, 2005, v. 32, n. 2, p. 168, doi. 10.1080/03014460500075423
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- Article
Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 1, p. 85, doi. 10.1038/sj.jid.5700034
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- Article
Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
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- Hereditas, 2024, v. 161, p. 1, doi. 10.1186/s41065-024-00312-4
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- Article
Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.
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- Pediatric Dermatology, 2023, v. 40, n. 6, p. 1081, doi. 10.1111/pde.15463
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- Article
More Than Skin Deep: Genetics, Clinical Manifestations, and Diagnosis of Albinism.
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- Einstein Journal of Biology & Medicine, 2014, v. 30, n. 1/2, p. 41
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- Article
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
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- Archives of Dermatological Research, 2023, v. 315, n. 2, p. 107, doi. 10.1007/s00403-022-02335-1
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- Article
Genetic Control of Albinism in Pickerelweed (Pontederia cordata L.).
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- Journal of Heredity, 2007, v. 98, n. 4, p. 356, doi. 10.1093/jhered/esm046
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- Article
Genetics of albinism in the isopod.
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- Journal of Heredity, 1980, v. 71, n. 2, p. 124
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- Article
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.
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- African Journal of Disability, 2022, v. 11, n. 1, p. 1, doi. 10.4102/ajod.v11i0.877
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- Article
Genetic insights into Tietz albinism‐deafness syndrome: A new dominant‐negative mutation in MITF.
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- Pigment Cell & Melanoma Research, 2024, v. 37, n. 4, p. 430, doi. 10.1111/pcmr.13166
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- Publication type:
- Article
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 672, doi. 10.1111/pcmr.12790
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- Article
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09777-y
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- Article
Clinical and genetic variability in children with partial albinism.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51768-8
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- Article
Genetic regulation of cold-induced albinism in the maize inbred line A661.
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- Journal of Experimental Botany, 2013, v. 64, n. 12, p. 3657
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- Article
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
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- Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9463
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- Article
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
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- Genes, 2021, v. 12, n. 4, p. 492, doi. 10.3390/genes12040492
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- Publication type:
- Article
Biology and genetics of oculocutaneous albinism and vitiligo -- common pigmentation disorders in southern Africa.
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- SAMJ: South African Medical Journal, 2013, p. 984, doi. 10.7196/SAMJ.7046
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- Article
Albinism in Africa: Historical, Geographic, Medical, Genetic and Psychosocial Aspects.
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- South African Journal of Child Health, 2019, v. 13, n. 2, p. 102
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- Article
Genetic analyses of causal genes of albinism (white fruiting body) in Grifola frondosa.
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- Journal of Wood Science, 2019, v. 65, n. 1, p. N.PAG, doi. 10.1186/s10086-019-1811-7
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- Article
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
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- 2021
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- Publication type:
- Report
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study.
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- Ophthalmic Genetics, 2000, v. 21, n. 4, p. 211
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- Publication type:
- Article
Oculocutaneous albinism in a rural community of South Africa: A population genetic study.
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- Annals of Human Biology, 2007, v. 34, n. 4, p. 493, doi. 10.1080/03014460701401261
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- Article
1例Angelman综合征合并眼皮肤白化病2型患者的临床和遗传学分析及文献回顾.
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- Journal of Health Sciences of Peking University / Beijing Daxue Xuebao (Yixue Ban), 2023, v. 55, n. 1, p. 181, doi. 10.19723/j.issn.1671-167X.2023.01.028
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- Article
Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 4, p. 1099, doi. 10.1038/jid.2012.432
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- Publication type:
- Article
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
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- Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307
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- Article
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
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- Scientific Reports, 2017, p. 44185, doi. 10.1038/srep44185
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- Publication type:
- Article
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
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- Scientific Reports, 2017, p. 33713, doi. 10.1038/srep33713
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- Article
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.
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- 2017
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- Letter to the Editor
Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.
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- British Journal of Dermatology, 2004, v. 151, n. 6, p. 1261, doi. 10.1111/j.1365-2133.2004.06237.x
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- Publication type:
- Article
Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl.
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- European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 74, doi. 10.1007/PL00013808
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- Article
Commentary on “A Systems Approach to Genetic Counseling for Albinism”.
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- Journal of Genetic Counseling, 1999, v. 8, n. 1, p. 55, doi. 10.1023/A:1022886604581
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- Article
Case Report: A Systems Approach to Genetic Counseling for Albinism.
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- Journal of Genetic Counseling, 1999, v. 8, n. 1, p. 47, doi. 10.1023/A:1022834620511
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- Publication type:
- Article
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
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- 2024
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- Publication type:
- Case Study
A Genome-Wide Comparison of Rice False Smut Fungus Villosiclava virens Albino Strain LN02 Reveals the Genetic Diversity of Secondary Metabolites and the Cause of Albinism.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15196, doi. 10.3390/ijms242015196
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- Publication type:
- Article
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0842-7
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- Publication type:
- Article
Genetik bei okulokutanem Albinismus.
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- Der Ophthalmologe, 2007, v. 104, n. 8, p. 674, doi. 10.1007/s00347-007-1590-1
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- Publication type:
- Article