Works matching Birt-Hogg-Dubé syndrome (BHDS)
Results: 158
Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.
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- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289175
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- Article
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt–Hogg–Dubé syndrome.
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- British Journal of Dermatology, 2006, v. 155, n. 5, p. 1067, doi. 10.1111/j.1365-2133.2006.07449.x
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- Article
Folliculin, a tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 83, doi. 10.1093/hmg/ddv450
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- Article
Partial pleural covering for intractable pneumothorax in patients with Birt- Hogg- Dubé Syndrome.
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- Clinical Respiratory Journal, 2017, v. 11, n. 2, p. 224, doi. 10.1111/crj.12328
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- Article
A case of pulmonary ALK-positive histiocytosis combined with Birt-Hogg-Dubé syndrome carrying an EML4::ALK gene fusion: a case report and literature review.
- Published in:
- 2025
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- Publication type:
- Case Study
Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.
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- BMC Developmental Biology, 2016, v. 16, p. 1, doi. 10.1186/s12861-016-0119-8
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- Article
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
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- 2019
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- Publication type:
- journal article
Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment.
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- BMC Pulmonary Medicine, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12890-023-02483-8
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- Article
Splice-site mutation causing partial retention of intron in the <italic>FLCN</italic> gene in Birt-Hogg-Dubé syndrome: a case report.
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- 2018
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- Publication type:
- Case Study
Renal oncocytosis.
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- Pathology International, 2005, v. 55, n. 4, p. 210, doi. 10.1111/j.1440-1827.2005.01813.x
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- Article
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
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- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009187
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- Article
Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN.
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- JNCI: Journal of the National Cancer Institute, 2012, v. 104, n. 22, p. 1750, doi. 10.1093/jnci/djs418
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- Article
4. Birt-Hogg-Dubé Syndrome.
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- JNCI: Journal of the National Cancer Institute, 2008, n. 38, p. 20
- Publication type:
- Article
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys.
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- 2008
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- Publication type:
- journal article
Kidney-Targeted Birt-Hogg-Dubé Gene Inactivation in a Mouse Model: Erkl/2 and Akt-mTOR Activation, Cell Hyperproliferation, and Polycystic Kidneys.
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- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 2, p. 140, doi. 10.1093/jnci/djm288
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- Publication type:
- Article
High Frequency of Somatic Frameshift BHD Gene Mutations in Birt-Hogg-Dubé-Associated Renal Tumors.
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- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 12, p. 931, doi. 10.1093/jnci/dji154
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- Article
case of recurrent pneumothorax and skin lesions diagnosed with Birt–Hogg–Dubé.
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- Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac054
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- Article
Lung cysts in Birt-Hogg-Dubé syndrome: Histopathological characteristics and aberrant sequence repeats.
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- Pathology International, 2009, v. 59, n. 10, p. 720, doi. 10.1111/j.1440-1827.2009.02434.x
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- Publication type:
- Article
A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies.
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- Case Reports in Pathology, 2014, p. 1, doi. 10.1155/2014/753694
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- Article
Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.
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- 2017
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- Publication type:
- journal article
MULTIDISCIPLINARY APPROACH IN THE DIAGNOSIS OF BIRT-HOGG-DUBÉ SYNDROME.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 295
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- Article
Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome.
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- 2017
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- Publication type:
- journal article
Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.
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- 2017
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- Publication type:
- journal article
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2488
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- Article
A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1003
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- Article
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 332, doi. 10.1002/mgg3.373
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- Article
P2‐6: Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells.
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- Respirology, 2021, v. 26, p. 115, doi. 10.1111/resp.14150_102
- Publication type:
- Article
P2‐6: Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells.
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- Respirology, 2021, v. 26, p. 115, doi. 10.1111/resp.14150_102
- Publication type:
- Article
Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt–Hogg–Dubé syndrome.
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- Respirology, 2018, v. 23, n. 4, p. 414, doi. 10.1111/resp.13191
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- Article
The pathogenesis of pneumothorax in Birt- Hogg- Dubé syndrome: A hypothesis.
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- 2014
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- Publication type:
- Other
Pathological findings in spontaneous pneumothorax specimens: does the incidence of unexpected clinically significant findings justify routine histological examination?
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- Histopathology, 2015, v. 66, n. 5, p. 675, doi. 10.1111/his.12523
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- Article
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.
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- Histopathology, 2014, v. 65, n. 1, p. 100, doi. 10.1111/his.12368
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- Publication type:
- Article
Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothorax.
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- Histopathology, 2014, v. 64, n. 5, p. 741, doi. 10.1111/his.12318
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- Article
The role of the Birt–Hogg–Dubé protein in mTOR activation and renal tumorigenesis.
- Published in:
- Oncogene, 2009, v. 28, n. 13, p. 1594, doi. 10.1038/onc.2009.14
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- Article
Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein.
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- Oncogene, 2008, v. 27, n. 40, p. 5339, doi. 10.1038/onc.2008.261
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- Article
The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
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- Oncogene, 2006, v. 25, n. 44, p. 5933, doi. 10.1038/sj.onc.1209593
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- Article
Morphological and Molecular Study of Hybrid Oncocytic/Chromophobe Tumor of the Kidney Associated with Sporadic Renal Oncocytosis and Chronic B-Cell Lymphocytic Leukemia: The Possible Contribution of Lymphoma to Renal Oncocytosis.
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- Pathobiology, 2021, v. 88, n. 4, p. 313, doi. 10.1159/000515215
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- Article
Fibrofolliculoma in a patient with tuberous sclerosis complex.
- Published in:
- Clinical & Experimental Dermatology, 2009, v. 34, n. 8, p. 892, doi. 10.1111/j.1365-2230.2008.03065.x
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- Publication type:
- Article
Multiple white facial papules.
- Published in:
- Clinical & Experimental Dermatology, 2009, v. 34, n. 7, p. 841, doi. 10.1111/j.1365-2230.2008.03023.x
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- Publication type:
- Article
Multiple angiomatous nodules: a novel skin tumor in Birt-Hogg-Dubé syndrome.
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- Journal of Cutaneous Pathology, 2016, v. 43, n. 12, p. 1197, doi. 10.1111/cup.12811
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- Article
Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.
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- Journal of Cutaneous Pathology, 2012, v. 39, n. 7, p. 675, doi. 10.1111/j.1600-0560.2012.01929.x
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- Publication type:
- Article
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03360-1
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- Article
Ultrastructural characteristics of primary renal epithelial tumours with granular oncocytic cytoplasm.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 9, p. 906, doi. 10.2298/VSP170629003T
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- Article
The Birt–Hogg–Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis.
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- Human Molecular Genetics, 2013, v. 22, n. 2, p. 284, doi. 10.1093/hmg/dds428
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- Publication type:
- Article
Facial Papules and Renal Carcinoma: A Quiz.
- Published in:
- Acta Dermato-Venereologica, 2022, v. 102, p. 1, doi. 10.2340/actadv.v102.4575
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- Publication type:
- Article
Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p. W260X.
- Published in:
- 2012
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- Publication type:
- Case Study
Birt-Hogg-Dubé Syndrome: Germline Mutation in the (C)8 Mononucleotide Tract of the BHD Gene in a German Patient.
- Published in:
- Acta Dermato-Venereologica, 2005, v. 85, n. 2, p. 172, doi. 10.1080/00015550410024157
- Publication type:
- Article
Birt‐Hogg‐Dubé syndrome: association with bilateral metachronous seminomas.
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- Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 9, p. e737, doi. 10.1111/jdv.18264
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- Article
Birt–Hogg–Dubé syndrome, from non‐invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis.
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- Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 4, p. e206, doi. 10.1111/jdv.16168
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- Publication type:
- Article
Adrenal Cortical Carcinoma and Additional Rare Pathologic Findings in Multi-Organs in a Birt-Hogg-Dubé Syndrome Patient: With an Emphasis on the Molecular Characteristics of Adrenal Cortical Carcinoma.
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- International Journal of Surgical Pathology, 2023, v. 31, n. 5, p. 689, doi. 10.1177/10668969221117246
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- Publication type:
- Article