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Year Number of Results
1971 2
1973 1
1976 2
1981 1
1986 1
1988 1
1992 3
1993 5
1994 4
1995 3
1996 5
1997 6
1998 2
1999 4
2000 2
2001 4
2002 5
2004 4
2005 6
2006 6
2007 7
2008 6
2009 3
2010 4
2011 7
2012 5
2013 12
2014 7
2015 7
2016 3
2017 12
2018 8
2019 11
2020 11
2021 9
2022 8
2023 4
2024 3

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171 results

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Page 1
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
Untreated PKU, also known as PAH deficiency, results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and clinical features such as acquired microcephaly, seizures, psychological signs, and generalized hypopigmentation of skin (including …
Untreated PKU, also known as PAH deficiency, results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and …
Vitiligo.
Ezzedine K, Eleftheriadou V, Whitton M, van Geel N. Ezzedine K, et al. Lancet. 2015 Jul 4;386(9988):74-84. doi: 10.1016/S0140-6736(14)60763-7. Epub 2015 Jan 15. Lancet. 2015. PMID: 25596811 Review.
Vitiligo is clinically characterised by the development of white macules due to the loss of functioning melanocytes in the skin or hair, or both. Two forms of the disease are well recognised: segmental and non-segmental vitiligo (the commonest form). ...
Vitiligo is clinically characterised by the development of white macules due to the loss of functioning melanocytes in the skin or hair …
Hair disorders in patients with cancer.
Freites-Martinez A, Shapiro J, Goldfarb S, Nangia J, Jimenez JJ, Paus R, Lacouture ME. Freites-Martinez A, et al. J Am Acad Dermatol. 2019 May;80(5):1179-1196. doi: 10.1016/j.jaad.2018.03.055. Epub 2018 Apr 14. J Am Acad Dermatol. 2019. PMID: 29660422 Free PMC article. Review.
Cytotoxic chemotherapies, molecularly targeted therapies, immunotherapies, radiotherapy, stem cell transplants, and endocrine therapies may lead to hair disorders, including alopecia, hirsutism, hypertrichosis, and pigmentary and textural hair changes. ...The psycho …
Cytotoxic chemotherapies, molecularly targeted therapies, immunotherapies, radiotherapy, stem cell transplants, and endocrine therapies may …
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. ...At least four genes are r …
Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and …
Seborrheic Dermatitis in Skin of Color: Clinical Considerations.
Elgash M, Dlova N, Ogunleye T, Taylor SC. Elgash M, et al. J Drugs Dermatol. 2019 Jan 1;18(1):24-27. J Drugs Dermatol. 2019. PMID: 30681789 Review.
Children of color often do not experience the classic "cradle cap" appearance of seborrheic dermatitis, and have erythema, flaking, and hypopigmentation of the affected areas and folds of skin. Seborrheic dermatitis tends to respond well to conventional treatments, althoug …
Children of color often do not experience the classic "cradle cap" appearance of seborrheic dermatitis, and have erythema, flaking, and h …
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
Ma EZ, Zhou AE, Hoegler KM, Khachemoune A. Ma EZ, et al. Arch Dermatol Res. 2023 Mar;315(2):107-116. doi: 10.1007/s00403-022-02335-1. Epub 2022 Feb 25. Arch Dermatol Res. 2023. PMID: 35217926 Review.
Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. ...
Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such …
Skin pigmentation and its control: From ultraviolet radiation to stem cells.
Yardman-Frank JM, Fisher DE. Yardman-Frank JM, et al. Exp Dermatol. 2021 Apr;30(4):560-571. doi: 10.1111/exd.14260. Epub 2020 Dec 24. Exp Dermatol. 2021. PMID: 33320376 Free PMC article. Review.
In the light of substantial discoveries in epithelial and hair pigmentation pathophysiology, this review summarizes the current understanding of skin pigmentation mechanisms. ...Melanocyte stem cells, normally quiescent, undergo cyclic activation/differentiation and downwa …
In the light of substantial discoveries in epithelial and hair pigmentation pathophysiology, this review summarizes the current under …
The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. ...
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffe …
Male genital vitiligo.
Dauendorffer JN, Skayem C, Passeron T. Dauendorffer JN, et al. Ann Dermatol Venereol. 2022 Jun;149(2):92-98. doi: 10.1016/j.annder.2021.06.003. Epub 2021 Jul 2. Ann Dermatol Venereol. 2022. PMID: 34226034 Review.
Vitiligo is a polygenetic multifactorial disease leading to melanocytic loss in skin and sometimes in hair. Genital areas may be involved and represent a specific therapeutic challenge. ...
Vitiligo is a polygenetic multifactorial disease leading to melanocytic loss in skin and sometimes in hair. Genital areas may be invo …
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). ...
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. The …
171 results