Works matching Albinism and genetics

Results: 204

Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse.

Published in:

Pigment Cell & Melanoma Research, 2021, v. 34, n. 4, p. 786, doi. 10.1111/pcmr.12982

By:

Fernández, Almudena;
Hayashi, Masahiro;
Garrido, Gema;
Montero, Andrea;
Guardia, Ana;
Suzuki, Tamio;
Montoliu, Lluis

Publication type:

Article

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Published in:

2024

By:

Nagy, Nikoletta;
Pal, Margit;
Kun, Jozsef;
Galik, Bence;
Urban, Peter;
Medvecz, Marta;
Fabos, Beata;
Neller, Alexandra;
Abdolreza, Aliasgari;
Danis, Judit;
Szabo, Viktoria;
Yang, Zhuo;
Fenske, Stefanie;
Biel, Martin;
Gyenesei, Attila;
Adam, Eva;
Szell, Marta

Publication type:

Case Study

Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective.

Published in:

Pakistan Journal of Medical Research, 2015, v. 54, n. 1, p. 33

By:

Khan, Muzammil Ahmad;
Khan, Muhammad Ayaz;
Akhlaq, Muhammad;
Zubair, Muhammad

Publication type:

Article

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00397

By:

Schidlowski, Laire;
Liebert, Fernando;
Iankilevich, Pérola Grupenmacher;
Rebellato, Priscila Regina Orso;
Rocha, Rafaela Andrade;
Almeida, Nadia Aparecida Pereira;
Jain, Aayushee;
Wu, Yiming;
Itan, Yuval;
Rosati, Roberto;
Prando, Carolina

Publication type:

Article

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.715437

By:

Ma, Linya;
Zhu, Jianjian;
Wang, Jing;
Huang, Yazhou;
Zhang, Jibo;
Wang, Chao;
Zhou, Yuan;
Peng, Dan

Publication type:

Article

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3

By:

Michaud, Vincent;
Lasseaux, Eulalie;
Green, David J.;
Gerrard, Dave T.;
Plaisant, Claudio;
UK Biobank Eye and Vision Consortium;
Fitzgerald, Tomas;
Birney, Ewan;
Arveiler, Benoît;
Black, Graeme C.;
Sergouniotis, Panagiotis I.

Publication type:

Article

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3

By:

Michaud, Vincent;
Lasseaux, Eulalie;
Green, David J.;
Gerrard, Dave T.;
Plaisant, Claudio;
UK Biobank Eye and Vision Consortium;
Fitzgerald, Tomas;
Birney, Ewan;
Arveiler, Benoît;
Black, Graeme C.;
Sergouniotis, Panagiotis I.

Publication type:

Article

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

Published in:

Genes, 2023, v. 14, n. 1, p. 135, doi. 10.3390/genes14010135

By:

Chan, Kyle S.;
Bohnsack, Brenda L.;
Ing, Alexander;
Drackley, Andy;
Castelluccio, Valerie;
Zhang, Kevin X.;
Ralay-Ranaivo, Hanta;
Rossen, Jennifer L.

Publication type:

Article

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52763-y

By:

Green, David J.;
Michaud, Vincent;
Lasseaux, Eulalie;
Plaisant, Claudio;
Fitzgerald, Tomas;
Birney, Ewan;
Black, Graeme C.;
Arveiler, Benoît;
Sergouniotis, Panagiotis I.

Publication type:

Article

Insights into the physiological, molecular, and genetic regulators of albinism in Camellia sinensis leaves.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1219335

By:

Yang Zhao;
Peidi Yang;
Yang Cheng;
Yong Liu;
Yang Yang;
Zhen Liu

Publication type:

Article

Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.

Published in:

Pediatric Dermatology, 2023, v. 40, n. 6, p. 1081, doi. 10.1111/pde.15463

By:

Liñán‐Barroso, Juan Manuel;
Mantrana‐Bermejo, María Eugenia;
Durán‐Romero, Antonio José;
Ortiz‐Álvarez, Juan;
Monserrat‐García, María Teresa;
Jiménez‐Thomas, Guillermo José;
Conejo‐Mir Sánchez, Julián;
Bernabéu‐Wittel, José

Publication type:

Article

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.

Published in:

Hereditas, 2024, v. 161, p. 1, doi. 10.1186/s41065-024-00312-4

By:

Wang, Yanan;
Chang, Yujie;
Gao, Mingya;
Zang, Weiwei;
Liu, Xiaofei

Publication type:

Article

Albinism in the South African Negro. III. Genetic counselling issues.

Published in:

1984

By:

Kromberg, Jennifer G. R.;
Jenkins, Trefor;
Kromberg, J G;
Jenkins, T

Publication type:

journal article

Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 5, p. 466, doi. 10.1002/pd.1439

By:

Lin, Shin-Yu;
Chien, Shu-Chin;
Su, Yi-Ning;
Lee, Chien-Nan;
Chen, Chih-Ping

Publication type:

Article

Oculocutaneous albinism in southern Africa: Population structure, health and genetic care.

Published in:

Annals of Human Biology, 2005, v. 32, n. 2, p. 168, doi. 10.1080/03014460500075423

By:

Lund, P. M.

Publication type:

Article

More Than Skin Deep: Genetics, Clinical Manifestations, and Diagnosis of Albinism.

Published in:

Einstein Journal of Biology & Medicine, 2014, v. 30, n. 1/2, p. 41

By:

Gittler, Julia Klein;
Marion, Robert

Publication type:

Article

Clinical and Molecular Genetic Characteristics of Patients with Oculocutaneous Albinism Type 1.

Published in:

Russian Journal of Genetics, 2022, v. 58, n. 4, p. 485, doi. 10.1134/S1022795422040056

By:

Ionova, S. A.;
Kadyshev, V. V.;
Zhurkova, N. V.;
Marahonov, A. V.;
Zinchenko, R. A.

Publication type:

Article

Comprehensive Review of the Genetics of Albinism.

Published in:

Journal of Visual Impairment & Blindness, 2018, v. 112, n. 6, p. 683, doi. 10.1177/0145482X1811200604

By:

Jauregui, Ramon;
Huryn, Laryssa A.;
Brooks, Brian P.

Publication type:

Article

Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico.

Published in:

Journal of Investigative Dermatology, 2006, v. 126, n. 1, p. 85, doi. 10.1038/sj.jid.5700034

By:

Santiago Borrero, Pedro J.;
Rodríguez-Pérez, Yolanda;
Renta, Jessicca Y.;
Izquierdo, Natalio J.;
del Fierro, Laura;
Muñoz, Daniel;
Molina, Norma López;
Ramírez, Sonia;
Pagán-Mercado, Glorivee;
Ortíz, Idith;
Rivera-Caragol, Enid;
Spritz, Richard A.;
Cadilla, Carmen L.

Publication type:

Article

Genetic analyses of causal genes of albinism (white fruiting body) in Grifola frondosa.

Published in:

Journal of Wood Science, 2019, v. 65, n. 1, p. N.PAG, doi. 10.1186/s10086-019-1811-7

By:

Kawaguchi, Nobuhisa;
Hayashi, Mirai;
Chen, Fu-Chia;
Shimomura, Norihiro;
Yamaguchi, Takeshi;
Aimi, Tadanori

Publication type:

Article

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307

By:

Gul, Hadia;
Shah, Abdul Haleem;
Harripaul, Ricardo;
Mikhailov, Anna;
Prajapati, Kamalben;
Khan, Ejazullah;
Ullah, Farman;
Zubair, Muhammad;
Ali, Muhammad Zeeshan;
Shah, Ayesha Haleem;
Salman, Said;
Khan, Saadullah;
Vincent, John B.;
Khan, Muzammil Ahmad

Publication type:

Article

Genetik bei okulokutanem Albinismus.

Published in:

Der Ophthalmologe, 2007, v. 104, n. 8, p. 674, doi. 10.1007/s00347-007-1590-1

By:

Zühlke, C.;
Stell, A.;
Käsmann-Kellner, B.

Publication type:

Article

Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.

Published in:

2017

By:

Ribero, S.;
Carrera, C.;
Tell‐Marti, G.;
Pastorino, C.;
Badenas, C.;
Garcia, A.;
Malvehy, J.;
Puig, S.

Publication type:

Letter to the Editor

Registration of six albinism wheat sib lines for genetic aberration of photosynthetic pigments.

Published in:

Journal of Plant Registrations, 2025, v. 19, n. 1, p. 1, doi. 10.1002/plr2.20397

By:

Pan, SiRui;
Pan, XingLai;
Xu, Hong;
Shi, YinHong;
Pan, QianYing;
Xie, SanGang;
Pan, QiuAi

Publication type:

Article

Commentary on “A Systems Approach to Genetic Counseling for Albinism”.

Published in:

Journal of Genetic Counseling, 1999, v. 8, n. 1, p. 55, doi. 10.1023/A:1022886604581

By:

Resta, Robert

Publication type:

Article

Case Report: A Systems Approach to Genetic Counseling for Albinism.

Published in:

Journal of Genetic Counseling, 1999, v. 8, n. 1, p. 47, doi. 10.1023/A:1022834620511

By:

Kim, Kathryn

Publication type:

Article

Our current understanding of clinical characteristics and the genetics of patients with albinism.

Published in:

2024

By:

Chean, Chung Shen;
Tu, Zhanhan;
Thomas, Mervyn G.;
Gottlob, Irene

Publication type:

Report

Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.

Published in:

Nature Genetics, 2006, v. 38, n. 1, p. 107, doi. 10.1038/ng1700

By:

Protas, Meredith E.;
Hersey, Candace;
Kochanek, Dawn;
Yi Zhou;
Wilkens, Horst;
Jeffery, William R.;
Zon, Leonard I.;
Borowsky, Richard;
Tabin, Clifford J.

Publication type:

Article

Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09777-y

By:

Dutta, Tithi;
Ganguly, Kausik;
Saha, Arpan;
Sil, Asim;
Ray, Kunal;
Sengupta, Mainak

Publication type:

Article

Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Published in:

Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 9, p. 1, doi. 10.1002/jcla.24625

By:

Thuong, Ma Thi Huyen;
Anh, Luong Thi Lan;
Nhung, Vu Phuong;
Ngoc, Tran Thi Bich;
Lan, Hoang Thu;
Phuong, Doan Kim;
Ha, Nguyen Hai;
Van Hai, Nong;
Ton, Nguyen Dang

Publication type:

Article

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Published in:

Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 2, p. 1, doi. 10.1002/jcla.23647

By:

Xu, Chenyang;
Xiang, Yanbao;
Li, Huanzheng;
Xu, Yunzhi;
Mao, Yijian;
Zhou, Lili;
Xu, Xueqin;
Tang, Shaohua

Publication type:

Article

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.

Published in:

African Journal of Disability, 2022, v. 11, n. 1, p. 1, doi. 10.4102/ajod.v11i0.877

By:

Kromberg, Jennifer G.R.;
Kerr, Robyn

Publication type:

Article

Genetic insights into Tietz albinism‐deafness syndrome: A new dominant‐negative mutation in MITF.

Published in:

Pigment Cell & Melanoma Research, 2024, v. 37, n. 4, p. 430, doi. 10.1111/pcmr.13166

By:

Yamamoto, Kohei;
Okamura, Ken;
Wakamatsu, Kazumasa;
Ito, Shosuke;
Akabane, Kozue;
Arai, Yosuke;
Kawaguchi, Junnosuke;
Hozumi, Yutaka;
Suzuki, Tamio

Publication type:

Article

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis.

Published in:

Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 672, doi. 10.1111/pcmr.12790

By:

Zhong, Zilin;
Gu, Li;
Zheng, Xiujie;
Ma, Nengjun;
Wu, Zehua;
Duan, Juan;
Zhang, Jun;
Chen, Jianjun

Publication type:

Article

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9463

By:

Schreyer-Shafir, Nira;
Huizing, Marjan;
Anikster, Yair;
Nusinker, Ziva;
Bejarano-Achache, Idit;
Maftzir, Genia;
Resnik, Luba;
Helip-Wooley, Amanda;
Westbroek, Wendy;
Gradstein, Libe;
Rosenmann, Ada;
Blumenfeld, Anat

Publication type:

Article

Genetic Control of Albinism in Pickerelweed (Pontederia cordata L.).

Published in:

Journal of Heredity, 2007, v. 98, n. 4, p. 356, doi. 10.1093/jhered/esm046

By:

Gettys, Lyn A.;
Wofford, David S.

Publication type:

Article

Genetics of albinism in the isopod.

Published in:

Journal of Heredity, 1980, v. 71, n. 2, p. 124

By:

JOHNSON, CLIFFORD

Publication type:

Article

Clinical and genetic variability in children with partial albinism.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51768-8

By:

Campbell, Patrick;
Ellingford, Jamie M.;
Parry, Neil R. A.;
Fletcher, Tracy;
Ramsden, Simon C.;
Gale, Theodora;
Hall, Georgina;
Smith, Katherine;
Kasperaviciute, Dalia;
Thomas, Ellen;
Lloyd, I. Chris;
Douzgou, Sofia;
Clayton-Smith, Jill;
Biswas, Susmito;
Ashworth, Jane L.;
Black, Graeme C. M.;
Sergouniotis, Panagiotis I.

Publication type:

Article

Oculocutaneous albinism in a rural community of South Africa: A population genetic study.

Published in:

Annals of Human Biology, 2007, v. 34, n. 4, p. 493, doi. 10.1080/03014460701401261

By:

Lund, P. M.;
Maluleke, T. G.;
Gaigher, I.;
Gaigher, M. J.

Publication type:

Article

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Published in:

Journal of the Pakistan Medical Association, 2017, v. 67, n. 5, p. 790

By:

Gul, Hadia;
Ali, Muhammad Zeeshan;
Khan, Ejazullah;
Zubair, Muhammad;
Badar, Muhammad;
Khan, Saadullah;
Shah, Abdul Haleem;
Khan, Muzammil Ahmad

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.

Published in:

2024

By:

Bjeloš, Mirjana;
Ćurić, Ana;
Bušić, Mladen;
Rak, Benedict;
Kuzmanović Elabjer, Biljana

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.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15196, doi. 10.3390/ijms242015196

By:

Xue, Mengyao;
Zhao, Siji;
Gu, Gan;
Xu, Dan;
Zhang, Xuping;
Hou, Xuwen;
Miao, Jiankun;
Dong, Hai;
Hu, Dongwei;
Lai, Daowan;
Zhou, Ligang

Publication type:

Article

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2.

Published in:

Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2025.1508198

By:

Luo, Lei;
Ma, Min;
Yang, Yanzhang;
Zhao, Hui

Publication type:

Article

Genetic regulation of cold-induced albinism in the maize inbred line A661.

Published in:

Journal of Experimental Botany, 2013, v. 64, n. 12, p. 3657

By:

Rodríguez, Víctor M.;
Velasco, Pablo;
Garrido, José L.;
Revilla, Pedro;
Ordás, Amando;
Butrón, Ana

Publication type:

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.

Published in:

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

By:

周秋君;
龚潘;
焦莶如;
杨志仙

Publication type:

Article

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Published in:

Scientific Reports, 2017, p. 44185, doi. 10.1038/srep44185

By:

Shahzad, Mohsin;
Yousaf, Sairah;
Waryah, Yar M.;
Gul, Hadia;
Kausar, Tasleem;
Tariq, Nabeela;
Mahmood, Umair;
Ali, Muhammad;
Khan, Muzammil A.;
Waryah, Ali M.;
Shaikh, Rehan S.;
Riazuddin, Saima;
Ahmed, Zubair M.

Publication type:

Article

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Published in:

Scientific Reports, 2017, p. 33713, doi. 10.1038/srep33713

By:

Zou, Xuan;
Li, Hui;
Yang, Lizhu;
Sun, Zixi;
Yuan, Zhisheng;
Li, Huajin;
Sui, Ruifang

Publication type:

Article

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0842-7

By:

Yang, Qi;
Yi, Sheng;
Li, Mengting;
Xie, Bobo;
Luo, Jinsi;
Wang, Jin;
Rong, Xiuliang;
Zhang, Qinle;
Qin, Zailong;
Hang, Limei;
Feng, Shihan;
Fan, Xin

Publication type:

Article

Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.

Published in:

British Journal of Dermatology, 2004, v. 151, n. 6, p. 1261, doi. 10.1111/j.1365-2133.2004.06237.x

By:

Hewitt, C.;
Wu, C. -L.;
Hattab, F. N.;
Amin, W.;
Ghaffar, K. A.;
Toomes, C.;
Sloan, P.;
Read, A. P.;
James, J. A.;
Thakker, N. S.

Publication type:

Article

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.

Published in:

2021

By:

Ehrenberg, Miriam;
Bagdonite-Bejarano, Laura;
Fulton, Anne B.;
Orenstein, Naama;
Yahalom, Claudia

Publication type:

Report