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
1979 1
1985 1
1986 1
1989 2
1990 2
1991 1
1994 3
1996 2
1997 1
1998 4
1999 3
2000 4
2001 4
2002 7
2003 3
2004 9
2005 5
2006 9
2007 7
2008 5
2009 4
2010 1
2011 3
2012 6
2013 13
2014 6
2015 2
2016 9
2017 5
2018 4
2019 2
2020 5
2021 9
2022 6
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

135 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.
Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, G …
Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research bas …
Hermansky-Pudlak Syndrome.
De Jesus Rojas W, Young LR. De Jesus Rojas W, et al. Semin Respir Crit Care Med. 2020 Apr;41(2):238-246. doi: 10.1055/s-0040-1708088. Epub 2020 Apr 12. Semin Respir Crit Care Med. 2020. PMID: 32279294 Review.
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. ...
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinis …
Hermansky-Pudlak Syndrome.
El-Chemaly S, Young LR. El-Chemaly S, et al. Clin Chest Med. 2016 Sep;37(3):505-11. doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30. Clin Chest Med. 2016. PMID: 27514596 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. ...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, ble …
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.
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic forms of albinism (Hermansky-Pudlak (HPS) and Chediak-Higashi syndrome (CHS)). We put forward that specific melanosome …
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic …
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH, Li W. Wei AH, et al. Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31. Pigment Cell Melanoma Res. 2013. PMID: 23171219 Review.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive and genetically heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition, which likely leads to deleterious lesions in lungs, heart, and other organs. . …
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive and genetically heterogeneous disorder characterized by oculo …
The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R. Obeng-Tuudah D, et al. Int J Gynaecol Obstet. 2021 Sep;154(3):412-426. doi: 10.1002/ijgo.13632. Epub 2021 Mar 9. Int J Gynaecol Obstet. 2021. PMID: 33521972 Review.
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism (OCA). ...
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of blee …
Inherited platelet disorders.
Sandrock-Lang K, Wentzell R, Santoso S, Zieger B. Sandrock-Lang K, et al. Hamostaseologie. 2016 Aug 3;36(3):178-86. doi: 10.5482/HAMO-14-11-0067. Epub 2015 Feb 24. Hamostaseologie. 2016. PMID: 25707719 Review.
The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin alphaIIbbeta3 defect) and Bernard-Soulier syndrome (defect of GPIb/IX/V). Detailed case reports of patients suffering from Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome …
The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin alphaIIbbeta3 defect) and Bernard-Soulier syndrom …
Albinism.
François J. François J. Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802. Ophthalmologica. 1979. PMID: 108645 Review.
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous alb …
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneou …
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Vicary GW, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. Ann Am Thorac Soc. 2016. PMID: 27529121 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism …
The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.
Schneier AJ, Fulton AB. Schneier AJ, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):387-91. doi: 10.3109/08820538.2013.825280. Semin Ophthalmol. 2013. PMID: 24138047 Review.
The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA) and bleeding tendency as their principal clinical manifestations. ...
The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous …
135 results