| scholarly article | Q13442814 |
| P2093 | author name string | PUDLAK P | |
| HERMANSKY F | |||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | albinism | Q81867 |
| bone marrow | Q546523 | ||
| P304 | page(s) | 162-169 | |
| P577 | publication date | 1959-02-01 | |
| P1433 | published in | Blood | Q885070 |
| P1476 | title | Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies | |
| P478 | volume | 14 |
| Q36565348 | A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). |
| Q24671618 | A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 |
| Q24300085 | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) |
| Q35712577 | A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome |
| Q24291443 | AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes |
| Q35533607 | Adult familial cryptogenic fibrosing alveolitis in the United Kingdom |
| Q33644924 | Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome |
| Q28115891 | Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9 |
| Q35028101 | Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects |
| Q21284167 | Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin |
| Q37258921 | Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding) |
| Q36597945 | Cell biology of membrane trafficking in human disease |
| Q36309159 | Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 |
| Q36040475 | Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease |
| Q43093386 | Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child |
| Q35541668 | Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent |
| Q40398358 | Complicated granulomatous colitis in a Japanese patient with Hermansky-Pudlak syndrome, successfully treated with infliximab |
| Q33391508 | Congenital thrombocytopathies |
| Q64040119 | Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report |
| Q33393005 | Current Strategies in Diagnosis of Inherited Storage Pool Defects |
| Q35153219 | Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models |
| Q33391289 | Diffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings |
| Q33399705 | Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner |
| Q41830829 | Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets |
| Q34749906 | Electrochemical measurement of endogenous serotonin release from human blood platelets |
| Q33435199 | Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo |
| Q34032870 | Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia |
| Q35249888 | Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome |
| Q37944552 | Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity |
| Q37719014 | Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning |
| Q50088162 | Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. |
| Q36995948 | Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? |
| Q24626239 | Genetic interstitial lung disease |
| Q36425742 | Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry |
| Q24629069 | Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico |
| Q34633826 | Genetical aspects of severe visual impairment in childhood |
| Q43443103 | Hermansky-Pudlak syndrome |
| Q44720111 | Hermansky-Pudlak syndrome in pregnancy: A case report |
| Q57656127 | Hermansky-Pudlak syndrome in two African-American brothers |
| Q37222169 | Hermansky-Pudlak syndrome type 1 in patients of Indian descent |
| Q24536114 | Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency |
| Q34186874 | Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics |
| Q40884162 | Hermansky-Pudlak syndrome type 4 with interstitial pneumonia |
| Q91762035 | Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet |
| Q40211030 | Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature |
| Q70974990 | Hermansky-Pudlak syndrome: albinism with lipofuscin storage |
| Q35272917 | Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds |
| Q36784975 | Hermansky-pudlak syndrome: report of a case and review of the literature |
| Q42070504 | Hermansky-pudlak syndrome; a case report. |
| Q35094716 | Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome |
| Q24685566 | Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2 |
| Q37316088 | Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting |
| Q35826372 | Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes |
| Q57281789 | Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru |
| Q24675801 | Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3 |
| Q35129447 | Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking |
| Q41815300 | Metabolic and storage lung diseases: spectrum of imaging appearances. |
| Q35214573 | Metazoan cell biology of the HOPS tethering complex |
| Q44293939 | Mouse chromosome 13. |
| Q24538795 | Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity |
| Q28546782 | Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism |
| Q40263134 | Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico |
| Q90751418 | Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report |
| Q34211173 | Ocular findings in the Hermansky-Pudlak syndrome |
| Q21202962 | Oculocutaneous albinism |
| Q55436693 | Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome |
| Q36034514 | Pigment, platelets, and Hermansky-Pudlak in human and mouse |
| Q42950853 | Pigmentation, pleiotropy, and genetic pathways in humans and mice |
| Q36850698 | Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis |
| Q64253357 | Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids |
| Q34826226 | Platelet disorders: a review of disturbances in adhesion, aggregation, and release reaction. |
| Q43115363 | Platelet granule exocytosis: a comparison with chromaffin cells |
| Q36356824 | Platelet-derived CD154: ultrastructural localization and clinical correlation in organ transplantation |
| Q26865798 | Polyphosphate: an ancient molecule that links platelets, coagulation, and inflammation |
| Q41631897 | Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. |
| Q35906189 | Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective |
| Q24633757 | Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies |
| Q33476834 | Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases |
| Q58760369 | Sorting machineries: how platelet-dense granules differ from α-granules |
| Q39010107 | Storage pool diseases illuminate platelet dense granule biogenesis |
| Q42649383 | Studies of platelets in a variant of the Hermansky-Pudlak syndrome |
| Q42735141 | The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages |
| Q38245721 | The biogenesis of lysosomes and lysosome-related organelles |
| Q24597752 | The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation |
| Q36560640 | The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome |
| Q36761555 | The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2 |
| Q33328757 | The ultrastructure of defective human platelets |
| Q37187038 | Triads in dermatology |
| Q42329523 | Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. |
| Q33489983 | Ultrastructural features of abnormal blood platelets. A review |
| Q35785179 | Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome |
| Q35904952 | VAMP-7 links granule exocytosis to actin reorganization during platelet activation |
| Q42719668 | VASCULAR PSEUDOHEMOPHILIA ASSOCIATED WITH CEROID PIGMENTOPHAGIA IN ALBINOS |
| Q34211524 | Vision in albinism |
| Q74063817 | rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping |
| Q37194787 | snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5 |
Search more.