Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
2000 1
2001 1
2005 1
2006 4
2007 4
2008 1
2009 2
2010 1
2011 2
2012 3
2013 2
2014 3
2015 2
2016 2
2017 2
2018 2
2019 2
2020 3
2021 3
2022 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Results by year

Filters applied: . Clear all
Page 1
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.
Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been identified …
Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and …
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F. Banushi B, et al. Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702. Cells. 2022. PMID: 36429129 Free PMC article. Review.
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis syndrome. ...
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Her …
Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N. Zamani R, et al. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):178-190. doi: 10.15586/aei.v49i2.61. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641308 Review.
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of wh …
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, …
Familial and acquired hemophagocytic lymphohistiocytosis.
Janka GE. Janka GE. Eur J Pediatr. 2007 Feb;166(2):95-109. doi: 10.1007/s00431-006-0258-1. Epub 2006 Dec 7. Eur J Pediatr. 2007. PMID: 17151879 Review.
Genetic HLH occurs in familial forms (FHLH) in which HLH is the primary and only manifestation, and in association with the immune deficiencies Chediak-Higashi syndrome 1 (CHS 1), Griscelli syndrome 2 (GS 2) and x-linked lymphoproliferative syndrome (XLP), in which …
Genetic HLH occurs in familial forms (FHLH) in which HLH is the primary and only manifestation, and in association with the immune deficienc …
Hemophagocytic lymphohistiocytosis and related disorders.
Filipovich AH. Filipovich AH. Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):410-5. doi: 10.1097/01.all.0000246626.57118.d9. Curr Opin Allergy Clin Immunol. 2006. PMID: 17088644 Review.
Related autosomal recessive defects of secretory cytotoxic lysosomes - LYST 1 (Chediak-Higashi syndrome), Rab27A (Griscelli syndrome), and X-linked lymphoproliferative disorder - also carry a very high risk of fatal hemophagocytic lymphohistiocytosis. ...
Related autosomal recessive defects of secretory cytotoxic lysosomes - LYST 1 (Chediak-Higashi syndrome), Rab27A (Griscelli syndro …
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, Pende D, Gilmour K, Romagnoli P, Griffiths GM, Aricò M. Cetica V, et al. J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11. J Allergy Clin Immunol. 2015. PMID: 25312756 Free PMC article.
METHODS: We carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D). RESULTS: We identif …
METHODS: We carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no …
Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.
Cetinkaya PG, Cagdas D, Gumruk F, Tezcan I. Cetinkaya PG, et al. J Pediatr Hematol Oncol. 2020 Aug;42(6):e434-e439. doi: 10.1097/MPH.0000000000001803. J Pediatr Hematol Oncol. 2020. PMID: 32324696
The patients were evaluated in 2 groups including PID with hypopigmentation (n=7) (Chediak-Higashi syndrome [CHS] and Griscelli syndrome type 2 [GS2]) and other PIDs (n=21). The median age of the study population was 23 (4.3 to 117.0) months at the time of the diagn …
The patients were evaluated in 2 groups including PID with hypopigmentation (n=7) (Chediak-Higashi syndrome [CHS] and Griscelli sy …
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.
Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R. Ridaura-Sanz C, et al. Pediatr Dermatol. 2018 Nov;35(6):780-783. doi: 10.1111/pde.13624. Epub 2018 Oct 18. Pediatr Dermatol. 2018. PMID: 30338556
Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melan …
Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light micro …
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy.
Hadžić N, Molnar E, Height S, Kovács G, Dhawan A, Andrikovics H, Worth A, Gilmour KC. Hadžić N, et al. J Pediatr. 2022 Nov;250:67-74.e1. doi: 10.1016/j.jpeds.2022.07.006. Epub 2022 Jul 11. J Pediatr. 2022. PMID: 35835228
Three patients with primary HLH received genetic diagnoses of FHL-3, Griscelli syndrome, and LRBA (lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing) protein deficiency. ...
Three patients with primary HLH received genetic diagnoses of FHL-3, Griscelli syndrome, and LRBA (lipopolysaccharide-responsi …
41 results