Works matching DE "HERMANSKY-Pudlak syndrome"
Results: 40
Instability of BLOC‐2 and BLOC‐3 in Chinese patients with Hermansky‐Pudlak syndrome.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 3, p. 373, doi. 10.1111/pcmr.12748
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- Article
Characterization of melanosomes and melanin in Japanese patients with Hermansky–Pudlak syndrome types 1, 4, 6, and 9.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 267, doi. 10.1111/pcmr.12662
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- Article
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608
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- Article
A new type of syndromic albinism associated with mutations in AP3D1.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 1, p. 5, doi. 10.1111/pcmr.12543
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- Article
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
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- Pigment Cell & Melanoma Research, 2016, v. 29, n. 6, p. 702, doi. 10.1111/pcmr.12534
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- Article
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
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- Pigment Cell & Melanoma Research, 2016, v. 29, n. 2, p. 231, doi. 10.1111/pcmr.12438
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- Article
Hermansky- Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 2, p. 176, doi. 10.1111/pcmr.12051
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- Article
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
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- Pigment Cell & Melanoma Research, 2012, v. 25, n. 5, p. 584, doi. 10.1111/j.1755-148X.2012.01029.x
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- Article
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.
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- Journal of Cell Biology, 2015, v. 209, n. 4, p. 563, doi. 10.1083/jcb.201410026
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- Article
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
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- Experimental & Therapeutic Medicine, 2016, v. 11, n. 6, p. 2247, doi. 10.3892/etm.2016.3241
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- Article
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype.
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- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 9, p. 3123, doi. 10.1534/g3.117.1125
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- Article
Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding).
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- 2013
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- Case Study
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
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- Platelets, 2018, v. 29, n. 1, p. 91, doi. 10.1080/09537104.2017.1361019
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- Article
A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006110
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- Article
Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.
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- Genetics, 2018, v. 208, n. 3, p. 1131, doi. 10.1534/genetics.117.300621
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- Article
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
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- British Journal of Haematology, 2017, v. 176, n. 1, p. 118, doi. 10.1111/bjh.14390
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- Article
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky- Pudlak syndrome.
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- Respirology Case Reports, 2016, v. 4, n. 1, p. 13, doi. 10.1002/rcr2.141
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- Article
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
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- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159177
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- Article
A deletion in the Hermansky-Pudlak syndrome 4 ( Hps4) gene appears to be responsible for albinism in channel catfish.
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- Molecular Genetics & Genomics, 2017, v. 292, n. 3, p. 663, doi. 10.1007/s00438-017-1302-8
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- Article
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
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- Clinical Genetics, 2016, v. 90, n. 1, p. 96, doi. 10.1111/cge.12715
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- Article
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
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- 2019
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- Publication type:
- journal article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
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- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
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- Article
Unexpected intra-operative bleeding due to Hermansky- Pudlak Syndrome.
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- 2015
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- Publication type:
- Case Study
Hermansky-Pudlak Sendromlu Bir Olguya ait Klinik Özellikler.
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- Gulhane Medical Journal, 2013, v. 55, n. 2, p. 146, doi. 10.5455/gulhane.39840
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- Article
Poster 494 An Unusual Cause of Ischemic Stroke in a Patient With Hermansky‐Pudlak Syndrome: A Case Report.
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- 2011
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- Abstract
Association of the Hermansky--Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
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- BMC Psychiatry, 2013, v. 13, n. 1, p. 549, doi. 10.1186/1471-244X-13-276
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- Article
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.
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- Croatian Medical Journal, 2018, v. 59, n. 1, p. 20, doi. 10.3325/cmj.2018.59.20
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- Article
Hermansky-Pudlak Syndrome: A Case Report.
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- 2014
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- Publication type:
- Case Study
Coexistence of Hermansky-Pudlak syndrome and JAK2<sup>V617F</sup>-positive essential thrombocythemia.
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- Ultrastructural Pathology, 2019, v. 43, n. 1, p. 94, doi. 10.1080/01913123.2019.1593269
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- Article
Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
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- European Respiratory Review, 2021, v. 30, n. 159, p. 1, doi. 10.1183/16000617.0193-2020
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- Article
Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome--associated lung disease.
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- Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3178, doi. 10.1172/JCI79792
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- Article
Poster Maternal Medicine.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2016, v. 123, p. 13, doi. 10.1111/1471-0528.13987
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- Article
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194193
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- Article
Issue Information.
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- Pediatric Dermatology, 2017, v. 34, n. 6, p. 633, doi. 10.1111/pde.13001
- Publication type:
- Article
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
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- Pediatric Dermatology, 2017, v. 34, n. 6, p. 638, doi. 10.1111/pde.13266
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- Publication type:
- Article
Metastatic Cutaneous Involvement of Granulomatous Colitis in Hermansky-Pudlak Syndrome.
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- Pediatric Dermatology, 2013, v. 30, n. 6, p. e278, doi. 10.1111/j.1525-1470.2012.01728.x
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- Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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- 2019
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- Publication type:
- journal article
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
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- 2018
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- Publication type:
- journal article
Exogenous gene transfer of Rab<sup>3</sup>8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats.
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- 2017
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- Publication type:
- journal article
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-42
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- Publication type:
- Article