Works matching Albinism

Results: 2881

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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

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

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

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

Albinism in Africa: a medical and social emergency.

Published in:

2015

By:

Brilliant, Murray H.

Publication type:

Editorial

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

First record of ocular albinism in sub-Antarctic fur seal (Arctocephalus tropicalis) pups on Marion Island.

Published in:

2024

By:

Shihlomule, Yinhla D.;
Weideman, Eleanor A.;
van der Vyver, J. S. Fredrik;
Conry, Danielle S.;
Jordaan, Rowan K.;
de Bruyn, P. J. Nico

Publication type:

Case Study

Characterizing melanoma in the setting of oculocutaneous albinism: an analysis of the literature.

Published in:

Archives of Dermatological Research, 2023, v. 315, n. 8, p. 2413, doi. 10.1007/s00403-022-02364-w

By:

Ravichandran, S.;
Funchain, P.;
Arbesman, J.

Publication type:

Article

Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Published in:

Archives of Dermatological Research, 2023, v. 315, n. 2, p. 107, doi. 10.1007/s00403-022-02335-1

By:

Ma, Emily Z.;
Zhou, Albert E.;
Hoegler, Karl M.;
Khachemoune, Amor

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

Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Published in:

Life (2075-1729), 2022, v. 12, n. 1, p. 14, doi. 10.3390/life12010014

By:

Karim, Sajjad;
Saharti, Samah;
Alganmi, Nofe;
Mirza, Zeenat;
Alfares, Ahmed;
Turkistany, Shereen;
Al-Attas, Manal;
Noureldin, Hend;
Al Sakkaf, Khadega;
Abusamra, Heba;
Al-Qahtani, Mohammed;
Abuzenadah, Adel

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

Scanning the Ocular Albinism 1 (OA1) Gene for Polymorphisms in Congenital Nystagmus by DHPLC.

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 2, p. 43, doi. 10.1080/13816810600677834

By:

Sallmann, Georgina B.;
Bray, Paula J.;
Rogers, Sophie;
Quince, Anne;
Cotton, Richard G. H.;
Carden, Susan M.

Publication type:

Article

Witchcraft‐related Abuse and Murder of Children with Albinism in Sub‐Saharan Africa: A Conceptual Review.

Published in:

Child Abuse Review, 2019, v. 28, n. 1, p. 13, doi. 10.1002/car.2549

By:

Bradbury‐Jones, Caroline;
Taylor, Julie;
Lund, Patricia

Publication type:

Article

شناسایی جهش بیماری زا 286dupA. در ژن TYR در یک فرد مبتلا به زالی پوستی چشمی با استفاده از روش توالی یابی اگزوم.

Published in:

Arak Medical University Journal, 2025, v. 28, n. 1, p. 78, doi. 10.61186/jams.28.1.78

By:

پرتو حکمت پو;
پرنیان حکمت پو;
فریده جلالی مشای;
سحر بیات;
میلاد غلامی

Publication type:

Article

Photoprotection and dermatological profile of persons with albinism in Plateau state, Nigeria: findings from a collaborative awareness and screening outreach program.

Published in:

Journal of the Egyptian Women's Dermatologic Society, 2024, v. 21, n. 2, p. 108, doi. 10.4103/jewd.jewd_54_23

By:

Adah, Ruth O.;
Akintatayo, Akintunde J.;
Kwaghe, Barka V.

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

Amelanotic melanoma in a patient with oculocutaneous albinism.

Published in:

2020

By:

Ruiz-Sanchez, D.;
Solovera, EL Garabito;
Valtueña, J.;
Garcia, A. Aguado;
Cantero, M. Garayar;
Garcia, G. Martinez;
Lopez, P. Manchado

Publication type:

Case Study

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

DENTAL ASPECTS FOR ALBINISM PATIENTS.

Published in:

International Journal of Medical Dentistry, 2024, v. 28, n. 4, p. 328

By:

DĂNILĂ, Ana-Maria;
HALIȚCHI, Liliana Gabriela;
CIOBÎCĂ, Alin

Publication type:

Article

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Published in:

Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.612977

By:

Ohishi, Yuta;
Ammann, Sandra;
Ziaee, Vahid;
Strege, Katharina;
Groß, Miriam;
Amos, Carla Vazquez;
Shahrooei, Mohammad;
Ashournia, Parisa;
Razaghian, Anahita;
Griffiths, Gillian M.;
Ehl, Stephan;
Fukuda, Mitsunori;
Parvaneh, Nima

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

Auditory neuropathy spectrum disorder in a child with albinism.

Published in:

Indian Journal of Otology, 2016, v. 22, n. 4, p. 280, doi. 10.4103/0971-7749.192181

By:

Bhat, Mayur;
Archana, G.;
Ayas, M.

Publication type:

Article

Zeruzeru. L'albinismo in Tanzania: Gli attacchi a scopo magico-religioso.

Published in:

Studi e Materiali di Storia delle Religioni, 2022, v. 88, n. 2, p. 629

By:

LUCREZI, SARA

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