Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 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
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
August AH et al.
Ophthalmic Genetics, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Gupta S et al.
European Urology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 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
Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.
Cui X et al.
Bmj Case Reports, 2025
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.
Rodriguez-Salamanca J et al.
Frontiers in Oncology, 2025
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
Geilswijk M et al.
European Journal of Human Genetics : Ejhg, 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
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
Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series.
Erinç A et al.
Tuberkuloz Ve Toraks, 2024
Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer.
Syed H et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 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
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
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature.
Konstantinou EK et al.
Ophthalmic Genetics, 2023
Presentation and Management of a Novel Ehlers-Danlos COL5A1 Variant With Birt-Hogg-Dube Syndrome: A Case Study.
Love AN et al.
Cureus, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.
Bodard S et al.
Cancers, 2022
Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias.
Steinlein OK et al.
Eclinicalmedicine, 2022
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 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
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K et al.
Plos One, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
Radzikowska E et al.
Orphanet Journal of Rare Diseases, 2021
Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.
Hu X et al.
Orphanet Journal of Rare Diseases, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene.
Ko EJ et al.
Stem Cell Research, 2021
The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.
Guo T et al.
Annals of Translational Medicine, 2020
Intratumoral heterogeneity of FLCN somatic mutations in gastric and colorectal cancers.
Son HJ et al.
Pathology Oncology Research : Por, 2020
Phenotypic Variation of Birt-Hogg-Dubé Syndrome Within a Single Family.
O'Carroll O et al.
Chest, 2020
Birt-Hogg-Dubé syndrome.
Daccord C et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
Balsamo F et al.
Bmc Medical Genetics, 2020
Breast cancer in a patient with Birt-Hogg-Dubé syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy.
Yadala V et al.
Bmj Case Reports, 2020
A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.
Genc Yavuz B et al.
Molecular Genetics & Genomic Medicine, 2019
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019