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1981
2025

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Year Number of Results
1981 1
1987 1
1988 2
1989 1
1991 3
1992 3
1993 4
1994 4
1995 1
1996 1
1997 5
1998 2
2000 3
2001 1
2002 1
2003 1
2004 3
2006 2
2007 2
2008 1
2009 2
2010 1
2011 2
2012 3
2013 9
2014 3
2015 1
2016 3
2017 2
2018 3
2019 2
2021 1
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2024 7
2025 1

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78 results

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Page 1
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Free PMC article. Review.
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic st …
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding di …
Stem cell factor receptor/c-Kit: from basic science to clinical implications.
Lennartsson J, Rönnstrand L. Lennartsson J, et al. Physiol Rev. 2012 Oct;92(4):1619-49. doi: 10.1152/physrev.00046.2011. Physiol Rev. 2012. PMID: 23073628 Free article. Review.
Furthermore, loss-of-function mutations in c-Kit have been observed and shown to give rise to a condition called piebaldism. This review provides a summary of our current knowledge regarding structural and functional aspects of c-Kit signaling both under normal and patholo …
Furthermore, loss-of-function mutations in c-Kit have been observed and shown to give rise to a condition called piebaldism. This rev …
Piebaldism.
Oiso N, Fukai K, Kawada A, Suzuki T. Oiso N, et al. J Dermatol. 2013 May;40(5):330-5. doi: 10.1111/j.1346-8138.2012.01583.x. Epub 2012 Jun 1. J Dermatol. 2013. PMID: 22670867 Review.
Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism that are milder or severer than genetically expected indicate that other factors, such as a modifier gene of MC1R, influence skin and h …
Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism
Chediak-Higashi syndrome.
Barak Y, Nir E. Barak Y, et al. Am J Pediatr Hematol Oncol. 1987 Spring;9(1):42-55. doi: 10.1097/00043426-198721000-00008. Am J Pediatr Hematol Oncol. 1987. PMID: 3296821 Review.
This rare and fatal autosomal recessive disorder is clinically characterized by partial albinism, frequent pyogenic infections, and an accelerated lymphohistiocytic phase. ...
This rare and fatal autosomal recessive disorder is clinically characterized by partial albinism, frequent pyogenic infections …
Vitiligo.
Le Poole C, Boissy RE. Le Poole C, et al. Semin Cutan Med Surg. 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. Semin Cutan Med Surg. 1997. PMID: 9125760 Review.
Although vitiligo has a characteristic clinical appearance and histological features, the presence of early or atypical lesions often requires the exclusion of other disorders such as postinflammatory hypopigmentation and piebaldism. Multiple hypotheses have been put forwa …
Although vitiligo has a characteristic clinical appearance and histological features, the presence of early or atypical lesions often requir …
KIT and mastocytosis.
Lim KH, Pardanani A, Tefferi A. Lim KH, et al. Acta Haematol. 2008;119(4):194-8. doi: 10.1159/000140630. Epub 2008 Jun 20. Acta Haematol. 2008. PMID: 18566536 Review.
In humans, germline loss-of-function KIT mutations have been associated with piebaldism - an autosomal dominant condition characterized by depigmented patches of skin and hair. ...
In humans, germline loss-of-function KIT mutations have been associated with piebaldism - an autosomal dominant condition characteriz …
[Oculocutaneous and ocular albinism].
Kubasch AS, Meurer M. Kubasch AS, et al. Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x. Hautarzt. 2017. PMID: 29018889 Review. German.
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to in
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics th
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ. Greene S, et al. Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8. Semin Pediatr Neurol. 2024. PMID: 39622608 Review.
Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. ...
Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleed …
Piebaldism in children.
Grob A, Grekin S. Grob A, et al. Cutis. 2016 Feb;97(2):90-2. Cutis. 2016. PMID: 26919497 Review.
Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of leukoderma. ...We present the case of a 14-year-old adolescent girl with piebaldism, along with a review of the pathogenesis, diagno
Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of
Disorders of pigmentation.
Fistarol SK, Itin PH. Fistarol SK, et al. J Dtsch Dermatol Ges. 2010 Mar;8(3):187-201; quiz 201-2. doi: 10.1111/j.1610-0387.2009.07137.x. Epub 2009 Sep 24. J Dtsch Dermatol Ges. 2010. PMID: 19788584 Review. English, German.
Congenital hypopigmentation can be restricted to the skin as in piebaldism or they represent a systemic disease as in Menkes disease or phenylketonuria. ...
Congenital hypopigmentation can be restricted to the skin as in piebaldism or they represent a systemic disease as in Menkes disease …
78 results