Associated Papers
FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.
Zhao M et al.
Virchows Archiv : an International Journal of Pathology, 2026
First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.
Huang S et al.
Bmc Medical Genomics, 2026
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Skarin Nordenvall A et al.
British Journal of Cancer, 2026
Conventional FLCN-mutated tumor: a retrospective study of 5 cases with emphasis on diagnostic challenges.
Wan L et al.
Human Pathology, 2026
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes.
Schirwani S et al.
Journal of Medical Genetics, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
GPNMB Expression Identifies FLCN -Associated Eosinophilic Renal Tumors With Heterogeneous Clinicopathologic Spectrum and Gene Expression Profiles.
Xia QY et al.
The American Journal of Surgical Pathology, 2025
Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant of Gcm2.
Bolel P et al.
Jbmr Plus, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Gupta S et al.
European Urology, 2025
Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.
Vaid S et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.
Tu L et al.
The American Journal of Case Reports, 2025
Recurrent Spontaneous Pneumothorax as a Manifestation of the Birt-Hogg-Dubé Syndrome: A Case Report.
Fatah FH et al.
Cureus, 2025
Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.
Furquim SR et al.
Arquivos Brasileiros De Cardiologia, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.
Cui X et al.
Bmj Case Reports, 2025
A familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: a case report and literature review.
Feng J et al.
Frontiers in Medicine, 2025
Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.
Xu Y et al.
Human Mutation, 2025
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.
Shabet C et al.
Familial Cancer, 2024
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.
Hu D et al.
Orphanet Journal of Rare Diseases, 2024
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.
Miao H et al.
Molecular Genetics & Genomic Medicine, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dubé syndrome: A case report and literature review.
Miao J et al.
Respirology Case Reports, 2024
Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series.
Erinç A et al.
Tuberkuloz Ve Toraks, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Colon adenocarcinoma and Birt-Hogg-Dubé syndrome in a young patient: case report and exploration of pathologic implications.
Jirka GW et al.
Cancer Biology & Therapy, 2023
Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report.
Lin Y et al.
Bmc Pulmonary Medicine, 2023
Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors.
Jha S et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
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.
Kim D et al.
International Journal of Surgical Pathology, 2023
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ et al.
Diagnostics (basel, Switzerland), 2023
FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.
Hofstedter R et al.
Endocrine Pathology, 2023
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R et al.
Ebiomedicine, 2023
Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2023
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.
Feng H et al.
Translational Andrology and Urology, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report.
Tang S et al.
Frontiers in Medicine, 2023
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.
Namba Y et al.
Plos One, 2023
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 2023
Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias.
Steinlein OK et al.
Eclinicalmedicine, 2022
Severe Cholestatic Jaundice (Stauffer Syndrome) as a Rare Paraneoplastic Manifestation in Adrenocortical Carcinoma.
Murvelashvili N et al.
Journal of the Endocrine Society, 2022
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.
Zhang G et al.
Orphanet Journal of Rare Diseases, 2022
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
Ray A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022