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   Articles with "birt hogg" as a keyword



A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome

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recommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2488

Abstract: This study aimed to identify disease‐causing variants within a Chinese family affected by Birt–Hogg–Dubé syndrome (BHDS), which arises from an autosomal dominant inheritance pattern attributed to variants in the folliculin (FLCN) gene, recognized as a… read more here.

Keywords: birt hogg; dub syndrome; hogg dub; chinese family ... See more keywords
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Genetic risk factors for spontaneous pneumothorax in Birt-Hogg-Dubé syndrome.

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recommendations! Published in 2020 at "Chest"

DOI: 10.1016/j.chest.2019.12.019

Abstract: BACKGROUND Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, spontaneous pneumothorax, fibrofolliculoma and renal cell cancer. Due to its rarity and clinical heterogeneity, much is still unknown regarding the course of… read more here.

Keywords: birt hogg; risk; hogg dub; spontaneous pneumothorax ... See more keywords

Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea

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recommendations! Published in 2021 at "Respiratory Medicine Case Reports"

DOI: 10.1016/j.rmcr.2021.101407

Abstract: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity.… read more here.

Keywords: birt hogg; chronic progressive; hogg dub; progressive dyspnea ... See more keywords

Characterizing the tumor suppressor activity of FLCN in Birt-Hogg-Dubé syndrome cell models through transcriptomic and proteomic analysis

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recommendations! Published in 2025 at "Oncogene"

DOI: 10.1038/s41388-025-03325-z

Abstract: Birt-Hogg-Dubé syndrome (BHD) patients are uniquely susceptible to all renal tumor subtypes. However, the underlying mechanism of carcinogenesis is unclear. To study cancer development in BHD, we used human proximal kidney (HK2) cells and found… read more here.

Keywords: birt hogg; dub syndrome; cell cycle; hogg dub ... See more keywords

[Not a pneumothorax again! Birt-Hogg-Dubé syndrome: a case report].

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recommendations! Published in 2023 at "Pneumologie"

DOI: 10.1055/a-2028-6032

Abstract: Case discussion of a 40-year-old male patient with a history of recurrent pneumothoraces due to Birt-Hogg-Dubé syndrome. In addition to conservative treatment of a pneumothorax on the left side, a subtotal parietal pleurectomy on the… read more here.

Keywords: pneumothorax; birt hogg; hogg dub; dub syndrome ... See more keywords

Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

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recommendations! Published in 2024 at "Annals of Medicine and Surgery"

DOI: 10.1097/ms9.0000000000001496

Abstract: Introduction and importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to… read more here.

Keywords: birt hogg; history; bhd syndrome; hogg dube ... See more keywords
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Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt–Hogg–Dubé syndrome

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recommendations! Published in 2018 at "Respirology"

DOI: 10.1111/resp.13191

Abstract: Birt–Hogg–Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and pneumothorax (PTX). Although some reports propose that findings from chest computed tomography enable one to distinguish BHDS from primary spontaneous… read more here.

Keywords: suspicion; birt hogg; hogg dub; dub syndrome ... See more keywords

Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype

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recommendations! Published in 2023 at "BMJ Case Reports"

DOI: 10.1136/bcr-2022-252362

Abstract: A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dubé (BHD) syndrome is presented. Whether this is an incidental finding or that there is a composite relationship… read more here.

Keywords: phaeochromocytoma patient; birt hogg; hogg dub; patient birt ... See more keywords

Correlation of classic history, imaging and pathology with novel genetics in Birt-Hogg-Dubé syndrome

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recommendations! Published in 2024 at "BMJ Case Reports"

DOI: 10.1136/bcr-2024-262177

Abstract: A spontaneous pneumothorax may be the heralding manifestation of diffuse cystic lung disease (DCLD). Historically, these diagnoses were differentiated by unique clinical, radiographic and tissue pathology characteristics. With recent advancements in genomics, several forms of… read more here.

Keywords: birt hogg; genetics; history; dub syndrome ... See more keywords

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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recommendations! Published in 2022 at "International journal of surgical pathology"

DOI: 10.1177/10668969221117246

Abstract: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by germline alterations in the FLCN gene. We report a 38-year-old man with BHD syndrome presenting with multiple rare pathologic findings involving various organs, including… read more here.

Keywords: cortical carcinoma; rare pathologic; birt hogg; hogg dub ... See more keywords

Diagnosis of renal tumors in Birt-Hogg-Dube syndrome: Clinical presentation and risk factors in a single-center retrospective cohort

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recommendations! Published in 2024 at "BMC Nephrology"

DOI: 10.1186/s12882-024-03775-9

Abstract: Birt-Hogg-Dube (BHD) syndrome is a rare genetic condition associated with the development of renal tumors. This study aims to determine typical age ranges for detecting renal abnormalities, risk factors for tumor development, and long-term outcomes… read more here.

Keywords: age; birt hogg; risk factors; renal tumors ... See more keywords