Works matching Albinism

Results: 2879

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

Being different: what it means to be a person with albinism in Nigeria.

Published in:

Disability & Society, 2025, v. 40, n. 7, p. 1872, doi. 10.1080/09687599.2024.2380502

By:

Olagunju, Anthony;
Mabhala, Mzwandile;
Buck, Gillian;
Taylor, Louise

Publication type:

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

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

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

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

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

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

"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

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

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

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

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

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

Albinism in Africa: a medical and social emergency.

Published in:

2015

By:

Brilliant, Murray H.

Publication type:

Editorial

Albinism - symptomatology, aetiology, and therapy.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 60, doi. 10.5114/polp.2025.148206

By:

Chałupczyńska, Beata;
Ciara, Elżbieta;
Chrzanowska, Krystyna H.;
Madej-Pilarczyk, Agnieszka

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

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

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

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.

Published in:

BMC Nephrology, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12882-025-04319-5

By:

Ali, Alaa A.;
Saleem, Zana Sidiq M.;
Jabali, Shakir S.;
Ibrahim, Nashwan M. R.;
Hughson, Michael D.

Publication type:

Article

A mini-perspective view on the aggressive behavior associated with both Autism Spectrum Disorder and Albinism.

Published in:

Bulletin of Integrative Psychiatry, 2025, n. 2, p. 1

By:

Oprea, Oana-Georgiana;
Dănilă, Ana-Maria;
Ciobîcă, Alin;
Vâță, Ioana

Publication type:

Article

Social withdrawal in albinism and autism. A hypothetical parallel.

Published in:

Bulletin of Integrative Psychiatry, 2025, n. 1, p. 33

By:

Dănilă, Ana-Maria;
Oprea, Georgiana;
Ionescu, Cătălina;
Manuela, Pădurariu;
Ciobîcă, Alin

Publication type:

Article

Neuropsychiatric and social deficits associated with albinism.

Published in:

Bulletin of Integrative Psychiatry, 2024, n. 2, p. 17, doi. 10.36219/bpi.2024.2.01

By:

Dănilă, Ana-Maria;
Ciobîcă, Alin;
Pădurariu, Manuela

Publication type:

Article

Vision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 17, p. 5451, doi. 10.3390/jcm12175451

By:

Lisbjerg, Kristian;
Jordana, Joaquim Torner;
Brandt, Vibeke N.;
Kjølholm, Christine;
Kessel, Line

Publication type:

Article

Psychiatric Morbidity among Subjects with Leprosy and Albinism in South East Nigeria: A Comparative Study.

Published in:

Annals of Medical & Health Sciences Research, 2015, v. 5, n. 3, p. 197, doi. 10.4103/2141-9248.157503

By:

Attama, C. M.;
Uwakwe, R.;
Onyeama, G. M.;
Igwe, M. N.

Publication type:

Article

The albinism of the feral Asinara white donkeys ( Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase ( TYR) gene deduced protein.

Published in:

Animal Genetics, 2016, v. 47, n. 1, p. 120, doi. 10.1111/age.12386

By:

Utzeri, V. J.;
Bertolini, F.;
Ribani, A.;
Schiavo, G.;
Dall'Olio, S.;
Fontanesi, L.

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

Identification of TYR mutations in patients with oculocutaneous albinism.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 6, p. 8409, doi. 10.3892/mmr.2018.8881

By:

Sun, Wan;
ShEN, Yanjie;
Shan, Shan;
Han, Liyun;
Li, Yang;
Zhou, ZhENg;
Zhong, Zilin;
ChEN, Jianjun

Publication type:

Article

Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism.

Published in:

Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 657, doi. 10.1111/pcmr.12782

By:

Lee, Helena;
Scott, Jennifer;
Griffiths, Helen;
Self, Jay E.;
Lotery, Andrew

Publication type:

Article

Molecular characterization of a series of 990 index patients with albinism.

Published in:

Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688

By:

Lasseaux, Eulalie;
Plaisant, Claudio;
Michaud, Vincent;
Pennamen, Perrine;
Trimouille, Aurelien;
Gaston, Laetitia;
Monfermé, Solène;
Lacombe, Didier;
Rooryck, Caroline;
Morice‐Picard, Fanny;
Arveiler, Benoît

Publication type:

Article

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Published in:

Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 318, doi. 10.1111/pcmr.12651

By:

Marti, Aurélie;
Lasseaux, Eulalie;
Ezzedine, Khaled;
Léauté‐Labrèze, Christine;
Boralevi, Franck;
Paya, Clément;
Coste, Valentine;
Deroissart, Vincent;
Arveiler, Benoit;
Taieb, Alain;
Morice‐Picard, Fanny

Publication type:

Article

Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Published in:

Pigment Cell & Melanoma Research, 2017, v. 30, n. 1, p. 41, doi. 10.1111/pcmr.12546

By:

Dolinska, Monika B.;
Kus, Nicole J.;
Farney, S. Katie;
Wingfield, Paul T.;
Brooks, Brian P.;
Sergeev, Yuri V.

Publication type:

Article

Increasing the complexity: new genes and new types of albinism.

Published in:

Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 11, doi. 10.1111/pcmr.12167

By:

Montoliu, Lluís;
Grønskov, Karen;
Wei, Ai ‐ Hua;
Martínez ‐ García, Mónica;
Fernández, Almudena;
Arveiler, Benoît;
Morice ‐ Picard, Fanny;
Riazuddin, Saima;
Suzuki, Tamio;
Ahmed, Zubair M.;
Rosenberg, Thomas;
Li, Wei

Publication type:

Article

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Published in:

Platelets, 2021, v. 32, n. 3, p. 420, doi. 10.1080/09537104.2020.1742315

By:

Michaud, Vincent;
Fiore, Mathieu;
Coste, Valentine;
Huguenin, Yoann;
Bordet, Jean-Claude;
Plaisant, Claudio;
Lasseaux, Eulalie;
Morice-Picard, Fanny;
Arveiler, Benoit

Publication type:

Article

Periodontal Disease in Kuna Albinism: A Comparative Study.

Published in:

Journal of Periodontology, 2007, v. 78, n. 1, p. 59, doi. 10.1902/jop.2007.050322

By:

Champsaur, Andre

Publication type:

Article

Watu kama sisi: they are not ghosts, but just like us – awareness raising about albinism in Tanzanian villages.

Published in:

Journal of Contemporary African Studies, 2022, v. 40, n. 4, p. 561, doi. 10.1080/02589001.2023.2185577

By:

Tarrósy, István

Publication type:

Article

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

Published in:

BMC Genetics, 2012, v. 13, n. 1, p. 62, doi. 10.1186/1471-2156-13-62

By:

Florisbal Damï¿½, Maria Cecï¿½lia;
Medeiros Xavier, Gildenor;
Paes Oliveira-Filho, Josï¿½;
Secorun Borges, Alexandre;
Nunes Oliveira, Henrique;
Riet-Correa, Franklin;
Schild, Ana Lucia

Publication type:

Article

AN EXPLORATORY STUDY ON ALBINISM KILLINGS IN UMHLABUYALINGANA SETTLEMENTS OF KWAZULU-NATAL PROVINCE, SOUTH AFRICA.

Published in:

ScienceRise: Juridical Science, 2023, v. 25, n. 3, p. 92, doi. 10.15587/2523-4153.2023.285181

By:

Nkosi, Sphamandla Lindani;
Ndlazi, Bhekani;
Maluleke, Witness

Publication type:

Article

AN EXPLORATORY STUDY ON ALBINISM KILLINGS IN UMHLABUYALINGANA SETTLEMENTS OF KWAZULU-NATAL PROVINCE, SOUTH AFRICA.

Published in:

ScienceRise: Juridical Science, 2023, v. 25, n. 3, p. 47, doi. 10.15587/2523-4153.2023.285181

By:

Nkosi, Sphamandla Lindani;
Ndlazi, Bhekani;
Maluleke, Witness

Publication type:

Article

Dermoscopy in albinism.

Published in:

Pigment International, 2024, v. 11, n. 2, p. 111, doi. 10.4103/pigmentinternational_5_21

By:

Kalantri, Mayuri;
Khopkar, Uday;
Gole, Prachi

Publication type:

Article

Cross-sectional study on clinical profile and quality of life of individuals with occulocutaneous albinism in Lagos, Nigeria.

Published in:

Pigment International, 2023, v. 10, n. 1, p. 37, doi. 10.4103/pigmentinternational.pigmentinternational_58_21

By:

AYANLOWO, OLUSOLA O.;
AKINKUGBE, AYESHA O.;
ONAKOYA, ADEOLA;
OTROFANOWEI, ERERE;
ODIASE, OGOGHO A.;
OLUMIDE, YETUNDE M.

Publication type:

Article

Anywhere but Here: a Calculus for Protection of Children with Albinism.

Published in:

Journal of International Migration & Integration, 2021, v. 22, n. 2, p. 729, doi. 10.1007/s12134-020-00773-2

By:

Nkrumah, Bright

Publication type:

Article