Results 41 to 50 of about 7,886 (197)

Oculocutaneous albinism and autism: a case report and review of literature [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2013
Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many
selma tural hesapcioglu
doaj  

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
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Bilateral atypical lamellar holes in a patient with oculocutaneous albinism

, 2020
Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Acon, Dhariana, Negron, Catherin I, Patel, Nimesh A, McKeown, Craig, Berrocal, Audina M, Falcone, Michelle M, Yannuzzi, Nicolas A   +6 more
core   +1 more source

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
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Molecular Basis of Oculocutaneous Albinism.

Journal of Investigative Dermatology, 1994
Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders.
Getting, William S, King, Richard A
openaire   +2 more sources

Early Visual Development in Albinism

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Visual system development is incomplete at birth, and while fixation and tracking usually emerge within the first weeks of life, some infants show delayed visual development (DVDev). This is frequently observed in infants with albinism, yet the timing of visual attentiveness and subsequent visual acuity development remains unclear ...
Catelijne Maria Neijzen, Ymkje Marije Hettinga, Herman Eduard Talsma, Charlotte Corinne Kruijt, Joke Helena de Boer, Gerard Cornelis de Wit, Maria Michielde van Genderen   +6 more
wiley   +1 more source

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

Frontiers in Genetics, 2021
BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng, Dan Peng   +8 more
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Quality of life in patients with oculocutaneous albinism [PDF]

Anais Brasileiros de Dermatologia, 2015
BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula   +3 more
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Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing

Advanced Science, Volume 13, Issue 50, 7 September 2026.
A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +11 more
wiley   +1 more source

Advances in Skin Whitening Agents: Mechanisms, Clinical Applications, and Future Perspectives

Journal of Cosmetic Dermatology, Volume 25, Issue 9, September 2026.
ABSTRACT Background Skin hyperpigmentation disorders are common cosmetic and clinical concerns caused by excessive melanin production, abnormal pigment distribution, or persistent pigment after inflammation. Their heterogeneous pathogenesis and tendency to recur complicate treatment, particularly in patients with darker phototypes.
Yuanyuan Chen, Enhui Wang, Yize Li, Yanfang Yang, Zhaofeng Zhang, Junbo Wang, Yanfei Jiang, Chunyue Zhao   +7 more
wiley   +1 more source