Works matching Albinism

Results: 2862

Características visuales en el albinismo: Revisión sistemática.

Published in:

Revista de Investigación en Salud VIVE, 2023, v. 6, n. 17, p. 620, doi. 10.33996/revistavive.v6i17.250

By:

Rodríguez, Selma;
Maza Espinosa, Gabriela

Publication type:

Article

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Published in:

Genes, 2021, v. 12, n. 4, p. 508, doi. 10.3390/genes12040508

By:

Chan, Hwei Wuen;
Schiff, Elena R.;
Tailor, Vijay K.;
Malka, Samantha;
Neveu, Magella M.;
Theodorou, Maria;
Moosajee, Mariya

Publication type:

Article

A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings.

Published in:

Early Child Development & Care, 2012, v. 182, n. 12, p. 1593, doi. 10.1080/03004430.2011.630074

By:

Javangwe, Gwatirera;
Mukondyo, Rachel Z.

Publication type:

Article

Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study.

Published in:

2020

By:

Marçon, Carolina Reato;
Moraes, José Cassio;
de Olivas Ferreira, Marcus Antonio Maia;
Oliari, Camilla Bilac;
Marçon, Carolina Reato;
Moraes, José Cassio;
de Olivas Ferreira, Marcus Antonio Maia;
Oliari, Camilla Bilac

Publication type:

journal article

Occipital Petalia and Albinism: A Study of Interhemispheric VEP Asymmetries in Albinism with No Nystagmus.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 802, doi. 10.3390/jcm8060802

By:

Liasis, Alkiviades;
Handley, Sian E.;
Nischal, Ken K.

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

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Published in:

Genes, 2022, v. 13, n. 6, p. 1072, doi. 10.3390/genes13061072

By:

Ullah, Muhammad Ikram

Publication type:

Article

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

Published in:

BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03251-z

By:

Fournier, Hugo;
Hasdenteufel, Marie;
Garrouteigt, Constance;
Perie, Mathieu;
Gliksohn, Antoine;
Jouanne, Béatrice;
Hadj-Rabia, Smail;
Arveiler, Benoit;
Morice-Picard, Fanny;
Quintard, Bruno

Publication type:

Article

Tagging and Tracking of Persons with Albinism: A Reflection of Some Critical Human Rights and Ethical Issues Arising from the Use of the Global Positioning System (GPS) as Part of a Solution to Cracking Down on Violent Crimes Against Persons with Albinism

Published in:

Potchefstroom Electronic Law Journal, 2019, v. 22, p. 1, doi. 10.17159/1727-3781/2019/v22i0a5206

By:

Mswela, M. M.

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

Malawian mothers' experiences of raising children living with albinism: A qualitative descriptive study.

Published in:

African Journal of Disability, 2021, v. 10, p. 1, doi. 10.4102/ajod.v10i0.693

By:

Likumbo, Naomi;
de Villiers, Tania;
Kyriacos, Una

Publication type:

Article

Partial albinism in Rhinelepis aspera from the Upper Paraná Basin, Brazil, with a review of albinism in South American freshwater fishes.

Published in:

Revista Mexicana de Biodiversidad, 2016, v. 87, n. 2, p. 531, doi. 10.1016/j.rmb.2016.04.005

By:

Nobile, André Batista;
Freitas-Souza, Diogo;
De Lima, Felipe Pontieri;
Acosta, Aline Angelina;
Da Silva, Reinaldo José

Publication type:

Article

The double jeopardy of women with albinism in Ibadan, Nigeria: breaking the unemployment barrier.

Published in:

Disability & Society, 2024, v. 39, n. 7, p. 1747, doi. 10.1080/09687599.2022.2164705

By:

Ololajulo, Esther T.;
Omotoso, Sharon A.

Publication type:

Article

Labeling albinism: language and discourse surrounding people with albinism in Tanzania.

Published in:

Disability & Society, 2015, v. 30, n. 8, p. 1143, doi. 10.1080/09687599.2015.1075869

By:

Brocco, Giorgio

Publication type:

Article

The social information needs of people with albinism (PWA): A case study of Khomas region, Namibia.

Published in:

Information Development, 2024, v. 40, n. 3, p. 429, doi. 10.1177/02666669221141097

By:

Ngula, Anna

Publication type:

Article

Marginalisation and Precarious Circumstances of People with Albinism (PWA): Information Needs and Services.

Published in:

Mousaion, 2021, v. 39, n. 2, p. 1, doi. 10.25159/2663-659X/8673

By:

Ngula, Anna;
Bitso, Connie

Publication type:

Article

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

NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.

Published in:

Pigment Cell & Melanoma Research, 2019, v. 32, n. 6, p. 848, doi. 10.1111/pcmr.12800

By:

Okamura, Ken;
Hayashi, Masahiro;
Abe, Yuko;
Kono, Michihiro;
Nakajima, Kimiko;
Aoyama, Yumi;
Nishigori, Chikako;
Ishimoto, Hiroshi;
Ishimatsu, Yuji;
Nakajima, Mika;
Hozumi, Yutaka;
Suzuki, Tamio

Publication type:

Article

Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11260, doi. 10.3390/ijms252011260

By:

Bobreshova, Anastasia M.;
Ionova, Sofya A.;
Kadyshev, Vitaly V.;
Sukhanova, Natella V.;
Viakhireva, Iuliia V.;
Filatova, Alexandra Yu.;
Zhurkova, Natalia V.;
Sparber, Peter A.;
Marakhonov, Andrey V.;
Vasilyeva, Tatyana A.;
Shchagina, Olga A.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

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

Children with albinism in African regions: their rights to 'being' and 'doing'.

Published in:

BMC International Health & Human Rights, 2018, v. 18, p. 1, doi. 10.1186/s12914-018-0144-8

By:

Franklin, Anita;
Lund, Patricia;
Bradbury-Jones, Caroline;
Taylor, Julie

Publication type:

Article

Dealing with the other between the ethical and the moral: albinism on the African continent.

Published in:

2017

By:

Imafidon, Elvis

Publication type:

journal article

"Why Always me?": Childhood Experiences of Family Violence and Prejudicial Treatment against People Living with Albinism in Nigeria.

Published in:

Journal of Family Violence, 2021, v. 36, n. 8, p. 1081, doi. 10.1007/s10896-021-00264-7

By:

Aborisade, Richard A.

Publication type:

Article

To Determine the Refractive Status in Albinism & Idiopathic Congenital Nystagmus at Hayatabad Medical Complex, Peshawar.

Published in:

Ophthalmology Update, 2018, v. 16, n. 1, p. 457

By:

Khan, Bilal;
Shah, Mir Ali;
Idris, Mohammad;
Qayyum, Sadaf

Publication type:

Article

Albinism in Africa: a medical and social emergency.

Published in:

2015

By:

Brilliant, Murray H.

Publication type:

Editorial

Can a Portable Flash Visual Evoked Potential (VEP) Device Identify Chiasmal Decussation Anomalies in Albinism?

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 11, p. 1395, doi. 10.3390/diagnostics15111395

By:

Keeling, Eloise;
Carter, Perry;
Musa, Abdi Malik;
Shawkat, Fatima;
Lee, Helena;
Self, Jay E.

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

Foveal hypoplasia in oculocutaneous albinism: An optical coherence tomography study.

Published in:

African Vision & Eye Health, 2023, v. 82, n. 1, p. 1, doi. 10.4102/aveh.v82i1.807

By:

Pillay, Ethan;
Rampersad, Nishanee

Publication type:

Article

Utilisation of eye and skin care, and social services among persons with albinism in Ulundi, KwaZulu-Natal, South Africa.

Published in:

African Vision & Eye Health, 2019, v. 78, n. 1, p. 1, doi. 10.4102/aveh.v78i1.484

By:

Zungu, Zuzile;
Mashige, Khathutshelo P.

Publication type:

Article

CARACTERIZACIÓN MOLECULAR EN INDIVIDUOS COLOMBIANOS CON ALBINISMO OCULOCUTÁNEO (OCA).

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2013, n. 25, p. 52

By:

Lattig, María C.;
Sanabria, Diana;
Fernández, Ángela;
Izquierdo, Natalio;
Urtatiz, Oscar

Publication type:

Article

Surveying the Experiences of People with Albinism in Iran: Qualitative Research.

Published in:

Iranian Journal of Psychiatry & Behavioral Sciences / Progress in Psychiatry & Behavioral Sciences, 2023, v. 17, n. 1, p. 1, doi. 10.5812/ijpbs-132504

By:

Alizadeh, Taher;
Bahmani, Bahman;
Khanjani, Mohammad Saeed;
Azkhosh, Manoochehr;
Shakiba, Shima;
Vahedi, Mohsen

Publication type:

Article

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2723, doi. 10.1007/s00431-023-04938-w

By:

Galli, Jessica;
Loi, Erika;
Dusi, Laura;
Pasini, Nadia;
Rossi, Andrea;
Scaglioni, Vera;
Mauri, Lucia;
Fazzi, Elisa

Publication type:

Article

Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?

Published in:

2008

By:

Reich, Susanne;
Keitzer, Rolf;
Schmidt, Reinhold E.;
Jacobs, Roland;
Varnholt, Verena;
Buck, Dietke;
Herold, Ralf;
Renz, Harald

Publication type:

journal article

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Published in:

Genes, 2022, v. 13, n. 12, p. 2198, doi. 10.3390/genes13122198

By:

Moreno-Artero, Ester;
Morice-Picard, Fanny;
Lasseaux, Eulalie;
Robert, Matthieu P.;
Coste, Valentine;
Michaud, Vincent;
Leclerc-Mercier, Stéphanie;
Bremond-Gignac, Dominique;
Arveiler, Benoit;
Hadj-Rabia, Smail

Publication type:

Article

The Dct −/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Published in:

Genes, 2022, v. 13, n. 7, p. 1164, doi. 10.3390/genes13071164

By:

Tingaud-Sequeira, Angèle;
Mercier, Elina;
Michaud, Vincent;
Pinson, Benoît;
Gazova, Ivet;
Gontier, Etienne;
Decoeur, Fanny;
McKie, Lisa;
Jackson, Ian J.;
Arveiler, Benoît;
Javerzat, Sophie

Publication type:

Article

Delineating Novel and Known Pathogenic Variants in TYR , OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Published in:

Genes, 2022, v. 13, n. 3, p. 503, doi. 10.3390/genes13030503

By:

Shakil, Muhammad;
Akbar, Abida;
Aisha, Nazish Mahmood;
Hussain, Intzar;
Ullah, Muhammad Ikram;
Atif, Muhammad;
Kaul, Haiba;
Amar, Ali;
Latif, Muhammad Zahid;
Qureshi, Muhammad Atif;
Mahmood, Saqib

Publication type:

Article

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Published in:

Genes, 2021, v. 12, n. 4, p. 492, doi. 10.3390/genes12040492

By:

Sajid, Zureesha;
Yousaf, Sairah;
Waryah, Yar M.;
Mughal, Tauqeer A.;
Kausar, Tasleem;
Shahzad, Mohsin;
Rao, Ali R.;
Abbasi, Ansar A.;
Shaikh, Rehan S.;
Waryah, Ali M.;
Riazuddin, Saima;
Ahmed, Zubair M.

Publication type:

Article

Using visual vignettes to explore sensitive topics: a research note on exploring attitudes towards people with albinism in Tanzania.

Published in:

International Journal of Social Research Methodology, 2020, v. 23, n. 6, p. 749, doi. 10.1080/13645579.2020.1757250

By:

Groot, Tjitske de;
Jacquet, Wolfgang;
Backer, Free De;
Peters, Ruth;
Meurs, Pieter

Publication type:

Article

Albinism: Particular Attention to the Ocular Motor System.

Published in:

Middle East African Journal of Ophthalmology, 2013, v. 20, n. 3, p. 248, doi. 10.4103/0974-9233.114804

By:

Hertle, Richard W.

Publication type:

Article

Shifting Wrongs to Rights: Lessons in Human Rights from the Situation of Mothers Impacted by Albinism in Africa.

Published in:

Journal of Human Rights Practice, 2022, v. 14, n. 3, p. 838, doi. 10.1093/jhuman/huac038

By:

Ibhawoh, Bonny;
Reimer-Kirkham, Sheryl;
Ero, Ikponwosa;
Mgijima-Konopi, Innocentia;
Beaman, Lori;
Senkoro, Perpetua;
Astle, Barbara;
Strobell, Emma;
Imafidon, Elvis

Publication type:

Article

Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model.

Published in:

PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205774

By:

Bradbury-Jones, Caroline;
Ogik, Peter;
Betts, Jane;
Taylor, Julie;
Lund, Patricia

Publication type:

Article

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Published in:

2019

By:

Power, Bradley;
Ferreira, Carlos R.;
Chen, Dong;
Zein, Wadih M.;
O'Brien, Kevin J.;
Introne, Wendy J.;
Stephen, Joshi;
Gahl, William A.;
Huizing, Marjan;
Malicdan, May Christine V.;
Adams, David R.;
Gochuico, Bernadette R.

Publication type:

journal article

Burden of albinism: development and validation of a burden assessment tool.

Published in:

2018

By:

Morice-Picard, Fanny;
Taïeb, Charles;
Marti, Aurelie;
Gliksohn, Antoine;
Bennani, Mohammed;
Bodemer, Christine;
Ezzedine, Khaled;
Filière Maladies Rares en Dermatologie: FIMARAD

Publication type:

journal article

Exploring the occupational engagement experiences of individuals with oculocutaneous albinism: an eThekwini District study.

Published in:

South African Journal of Occupational Therapy, 2020, v. 50, n. 3, p. 52, doi. 10.17159/2310-3833/2020/vol50no3a6

By:

Mather, Lara;
Gurayah, Thavanesi;
Naidoo, Deshini;
Nathoo, Henna;
Feresu, Fortune;
Dlamini, Nhlanhla;
Ncube, Trinity;
Patel, Zuleika

Publication type:

Article

Contact Versus Education: An Explorative Comparison Between the Contact and Education Strategy Considering Albinism Related Stigma in Tanzanian High Schools.

Published in:

Foundations of Science, 2022, v. 27, n. 2, p. 785, doi. 10.1007/s10699-021-09788-z

By:

De Groot, T. M. M.;
Meurs, P.;
Jacquet, W.;
Peters, R. M. H.

Publication type:

Article

Mothering, Albinism and Human Rights: The Disproportionate Impact of Health-Related Stigma in Tanzania.

Published in:

Foundations of Science, 2022, v. 27, n. 2, p. 719, doi. 10.1007/s10699-020-09701-0

By:

Reimer-Kirkham, Sheryl;
Astle, Barbara;
Ero, Ikponwosa;
Imafidon, Elvis;
Strobell, Emma

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

BAP1 mutation in a patient with oculocutaneous albinism.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2021, v. 12, n. 3, p. 270, doi. 10.7241/ourd.20213.8

By:

Bax, Daniel;
Piette, Evan;
Adhikhari, Prajesh

Publication type:

Article

OCULOCUTANEOUS ALBINISM COMPLICATED WITH AN ULCERATED PLAQUE.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2013, v. 4, n. 2, p. 208, doi. 10.7241/ourd.20132.50

By:

Raju, Belliappa Pemmanda;
Nagaraju, Umashankar;
Raveendra, Leena;
Vivekananda;
Sundar, Priya Kootelu;
Keshavalu, Lokanatha

Publication type:

Article

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