| P2093 | author name string | Christine Kim Garcia | |
| | Megan Stuebner Devine | |
| P2860 | cites work | Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor | Q22008778 |
| | Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine | Q22010034 |
| | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) | Q24300085 |
| | BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 | Q24302143 |
| | Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita | Q24536887 |
| | Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology | Q24562866 |
| | Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 | Q24597936 |
| | A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds | Q24605337 |
| | Efficacy and safety of sirolimus in lymphangioleiomyomatosis | Q24610039 |
| | Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) | Q24631638 |
| | A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation | Q24645087 |
| | Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita | Q24653935 |
| | BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports | Q24654382 |
| | Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan | Q24657836 |
| | A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 | Q24671618 |
| | Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis | Q24671728 |
| | Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder | Q28138040 |
| | Pulmonary manifestations in lysinuric protein intolerance | Q40861826 |
| | Fibrosing Alveolitis in Patients with Neurofibromatosis | Q41226178 |
| | Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. | Q41921955 |
| | Mice deficient for the IL-3/GM-CSF/IL-5 beta c receptor exhibit lung pathology and impaired immune response, while beta IL3 receptor-deficient mice are normal | Q42484123 |
| | GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis | Q42508031 |
| | Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred | Q42675595 |
| | Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis | Q43758284 |
| | Bronchoalveolar disease in dyskeratosis congenita | Q43808800 |
| | Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome | Q44070468 |
| | Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease | Q44444601 |
| | Partial deficiency of surfactant protein B in an infant with chronic lung disease | Q45865984 |
| | Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. | Q46417495 |
| | Regression of pulmonary lymphangioleiomyomatosis (PLAM)-associated retroperitoneal angiomyolipoma post-lung transplantation with rapamycin treatment. | Q46675310 |
| | High-affinity autoantibodies specifically eliminate granulocyte-macrophage colony-stimulating factor activity in the lungs of patients with idiopathic pulmonary alveolar proteinosis | Q47602528 |
| | Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. | Q47732810 |
| | New surfactant protein C gene mutations associated with diffuse lung disease | Q47797387 |
| | Causes of death in hyper-IgE syndrome | Q48254524 |
| | Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. | Q50959564 |
| | Pulmonary function abnormalities in type I Gaucher disease. | Q51013866 |
| | Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. | Q51703565 |
| | Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. | Q52541285 |
| | A major deletion in the surfactant protein-B gene causing lethal respiratory distress. | Q52578027 |
| | Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. | Q53624773 |
| | Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. | Q53856488 |
| | Diffuse interstitial lung disease in neurofibromatosis. | Q53887743 |
| | Autoantibodies against granulocyte macrophage colony-stimulating factor are diagnostic for pulmonary alveolar proteinosis. | Q53894176 |
| | Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. | Q54418482 |
| | A common mutation in the surfactant protein C gene associated with lung disease. | Q54676468 |
| | Heredity in sarcoidosis: a registry-based twin study | Q57256691 |
| | Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias | Q60364013 |
| | A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family | Q64043135 |
| | Tuberous sclerosis | Q64129273 |
| | Interstitial pulmonary disease associated with dyskeratosis congenita | Q68077154 |
| | Pulmonary lymphangiomyomatosis and tuberous sclerosis: comparison of radiographic and thin-section CT findings | Q68754945 |
| | Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis | Q69987800 |
| | Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome | Q70368769 |
| | Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis | Q70532435 |
| | Dyskeratosis congenita | Q72146629 |
| | Interstitial thickening in pulmonary alveolar microlithiasis: an underappreciated finding | Q72528202 |
| | Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation | Q73112262 |
| | Hereditary surfactant protein B deficiency resulting from a novel mutation | Q73420450 |
| | Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation | Q74228345 |
| | Familial sarcoidosis is linked to the major histocompatibility complex region | Q74316513 |
| | Lung involvement and enzyme replacement therapy in Gaucher's disease | Q74331414 |
| | The familial occurrence of pulmonary alveolar microlithiasis | Q74481948 |
| | Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) | Q74486201 |
| | Pulmonary alveolar proteinosis | Q75208040 |
| | Unusual complications after bone marrow transplantation for dyskeratosis congenita | Q77476844 |
| | Synthesis, processing and secretion of surfactant proteins B and C | Q77545818 |
| | Usual interstitial pneumonia in an adolescent with ABCA3 mutations | Q81643537 |
| | Thoracic CT findings in Birt-Hogg-Dube syndrome | Q83272374 |
| | A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study | Q83576663 |
| | Novel human pathological mutations. SLC34A2. Disease: pulmonary alveolar microlithiasis | Q83847128 |
| | Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients | Q84588653 |
| | Advances in the genetics of sarcoidosis | Q37099139 |
| | Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome | Q37273809 |
| | Population and disease-based prevalence of the common mutations associated with surfactant deficiency | Q37396168 |
| | Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis | Q37806773 |
| | Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB | Q39509032 |
| | Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome | Q40098119 |
| | Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms | Q40116328 |
| | Mortality from pulmonary fibrosis increased in the United States from 1992 to 2003. | Q40216430 |
| | Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome | Q40584900 |
| | Expression of a Human Surfactant Protein C Mutation Associated with Interstitial Lung Disease Disrupts Lung Development in Transgenic Mice | Q40629149 |
| | The mode of presentation of sarcoidosis in Finland and Hokkaido, Japan. A comparative analysis of 571 Finnish and 686 Japanese patients | Q40664393 |
| | Recurrent familial neonatal deaths: hereditary surfactant protein B deficiency | Q40742594 |
| | Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies | Q28184387 |
| | Neurofibromatosis: clinical presentations and anaesthetic implications | Q28188913 |
| | A mutation in the surfactant protein C gene associated with familial interstitial lung disease | Q28201394 |
| | Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome | Q28219681 |
| | Genetic disorders of surfactant dysfunction | Q28235256 |
| | Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 | Q28245141 |
| | Identification and characterization of the tuberous sclerosis gene on chromosome 16 | Q28257738 |
| | Protein composition of catalytically active human telomerase from immortal cells | Q28295708 |
| | Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes | Q28308116 |
| | An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management | Q28308246 |
| | Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 | Q28570821 |
| | Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 | Q28585075 |
| | The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene | Q28594610 |
| | Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome | Q29614595 |
| | Telomerase mutations in families with idiopathic pulmonary fibrosis | Q29615671 |
| | Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Q29616531 |
| | Essential role of mouse telomerase in highly proliferative organs | Q29620451 |
| | Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. | Q30374030 |
| | Isolation and localization of type IIb Na/Pi cotransporter in the developing rat lung | Q30883793 |
| | Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations | Q33587591 |
| | ATS/ERS/WASOG statement on sarcoidosis. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders | Q33772723 |
| | The molecular basis of pulmonary alveolar proteinosis | Q33835843 |
| | Expression of type II Na-P(i) cotransporter in alveolar type II cells | Q33880572 |
| | Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review | Q33933652 |
| | A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax | Q33938690 |
| | Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations | Q33943465 |
| | Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS). | Q33956329 |
| | Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress. | Q33991198 |
| | Incidence and prevalence of idiopathic pulmonary fibrosis | Q33997249 |
| | Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis | Q34009330 |
| | Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia | Q34032870 |
| | Racial differences in sarcoidosis incidence: a 5-year study in a health maintenance organization | Q34064078 |
| | Dyskeratosis congenita in all its forms | Q34071682 |
| | Review: Role of Genetics in Susceptibility and Outcome of Sarcoidosis | Q34128343 |
| | Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features | Q34131337 |
| | Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics | Q34186874 |
| | Pulmonary alveolar microlithiasis. World cases and review of the literature. | Q34282447 |
| | ABCA3 gene mutations in newborns with fatal surfactant deficiency | Q34308818 |
| | Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis | Q34385154 |
| | Genetic linkage of hyper-IgE syndrome to chromosome 4. | Q34390210 |
| | Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy | Q34402453 |
| | X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation | Q34407702 |
| | Pulmonary alveolar microlithiasis in children: radiographic and high-resolution CT findings | Q34411879 |
| | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita | Q34452324 |
| | ABCA3 mutations associated with pediatric interstitial lung disease | Q34455684 |
| | Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome | Q34484976 |
| | Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis | Q34508924 |
| | Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis | Q34580650 |
| | Unexplained neonatal respiratory distress due to congenital surfactant deficiency | Q34630544 |
| | Diffuse lung disease in young children: application of a novel classification scheme | Q34691602 |
| | A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. | Q34795793 |
| | Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita | Q34935851 |
| | Endoplasmic reticulum stress enhances fibrotic remodeling in the lungs | Q35081648 |
| | Genetic Basis of Children's Interstitial Lung Disease | Q35513452 |
| | Adult familial cryptogenic fibrosing alveolitis in the United Kingdom | Q35533607 |
| | Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF | Q35536294 |
| | Adult-onset pulmonary fibrosis caused by mutations in telomerase | Q35759839 |
| | Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors | Q35764929 |
| | Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome | Q35855144 |
| | A common MUC5B promoter polymorphism and pulmonary fibrosis. | Q36048530 |
| | Telomere diseases | Q36107376 |
| | Clinical and pathologic features of familial interstitial pneumonia | Q36234581 |
| | Pulmonary alveolar microlithiasis: review of Turkish reports | Q36274797 |
| | Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing | Q36320110 |
| | Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review | Q36402148 |
| | Protein-lipid interactions and surface activity in the pulmonary surfactant system. | Q36442642 |
| | Telomere shortening in familial and sporadic pulmonary fibrosis | Q36915503 |
| | Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. | Q36979961 |
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | interstitial lung disease | Q1153419 |
| P304 | page(s) | 95-110 | |
| P577 | publication date | 2012-03-01 | |
| P1433 | published in | Clinics in Chest Medicine | Q15754921 |
| P1476 | title | Genetic interstitial lung disease | |
| P478 | volume | 33 | |