Results 131 to 140 of about 7,863 (174)

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications. [PDF]

Eur J Hum Genet
Kohli S, Saxena R, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I.   +8 more
europepmc   +1 more source

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. [PDF]

Mol Genet Genomic Med
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL.   +4 more
europepmc   +1 more source

Reply to letter to editor: Low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India. [PDF]

Saudi J Ophthalmol
Raman R, Gopalakrishnan S, Velu S.
europepmc   +1 more source

Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism.

Oman J Ophthalmol
Kumar N, Bazgain K, Singh SR, Katoch D.
europepmc   +1 more source

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Oculocutaneous albinism

Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
Camila Krysicka Janniger
exaly   +3 more sources

Oculocutaneous albinism and schizophrenia

Biological Psychiatry, 1986
rodents, albinos showed marked behavioral differences from their pigmented counterparts (Henry and Schlesinger 1967). Greiner and Nicolson (1965) proposed a relationship between hypermelanosis and schizophrenia, noting increased melanogenesis in autopsy material from schizophrenics institutionalized in the prephenothiazine era. They hypothesized that a
M H, Pollack, T C, Manschreck
openaire   +2 more sources

Newborn With Oculocutaneous Albinism

Journal of Pediatric Health Care, 2014
MEDICAL AND OBSTETRICAL HISTORY Themother’s medical historywas benign except for excision of a gangrenous lesion from her right hand. Her obstetrical history was not significant for any previous genetic disorders. She was identified as gravida 4, para 1.
Ebony, Beaudoin, Mary Patrice, Hildebrand, Kathryn, Schmidt   +2 more
openaire   +2 more sources

RETINOBLASTOMA IN OCULOCUTANEOUS ALBINISM

RETINAL Cases & Brief Reports, 2010
To report a case of retinoblastoma in a child with oculocutaneous albinism (OCA).A 24-month-old girl with classic features of OCA developed leukocoria in the left eye.The patient was found to have an endophytic retinoblastoma and an exophytic retinoblastoma, with a total retinal detachment and neovascularization of the iris. Enucle-ation was performed,
Fariba, Ghassemi, Carol L, Shields, Cesare, Pirondini, Ralph C, Eagle, Jerry A, Shields   +4 more
openaire   +2 more sources

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

Genes, 2021
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome.
Hwei Wuen Chan, Vijay K Tailor, Elena R. Schiff   +2 more
exaly   +1 more source