63 related articles for article (PubMed ID: 37417625)
1. A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.
Xiao H; Chi F; Li S; Wang T; Bai B; Hou J; Ge X
Medicine (Baltimore); 2023 Jul; 102(27):e34241. PubMed ID: 37417625
[TBL] [Abstract][Full Text] [Related]
2. [DIAGNOSIS OF GENETIC VARIANT CARRIERS IN A PATIENT WITH ASYMPTOMATIC BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT].
Watari S; Ichikawa T; Hirasawa A; Shiraishi H; Tokunaga M; Kubota R; Kusumi N; Tsushima T; Shinno Y; Furuya M
Nihon Hinyokika Gakkai Zasshi; 2023; 114(2):61-65. PubMed ID: 38644188
[TBL] [Abstract][Full Text] [Related]
3. Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.
Schmidt LS
Fam Cancer; 2013 Sep; 12(3):357-64. PubMed ID: 23108783
[TBL] [Abstract][Full Text] [Related]
4. FLCN: The causative gene for Birt-Hogg-Dubé syndrome.
Schmidt LS; Linehan WM
Gene; 2018 Jan; 640():28-42. PubMed ID: 28970150
[TBL] [Abstract][Full Text] [Related]
5. Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax.
Pittet O; Christodoulou M; Staneczek O; Ris HB
Ann Thorac Surg; 2006 Sep; 82(3):1123-5. PubMed ID: 16928562
[TBL] [Abstract][Full Text] [Related]
6. A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD; Fleming LR; Piskorski AM; Amin A; Phornphutkul C; de la Monte S; Vilboux T; Duncan F; Pellegrino J; Braddock B; Middelton LA; Schmidt LS; Merino MJ; Cowen EW; Introne WJ; Linehan WM; Smith ACM
Am J Med Genet A; 2023 Feb; 191(2):490-497. PubMed ID: 36513625
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS; Linehan WM
Nat Rev Urol; 2015 Oct; 12(10):558-69. PubMed ID: 26334087
[TBL] [Abstract][Full Text] [Related]
8. Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series.
Erinç A; Azakli D; Kirhan G; Satici C
Tuberk Toraks; 2024 Mar; 72(1):91-94. PubMed ID: 38676598
[No Abstract] [Full Text] [Related]
9. Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors.
Jha S; Welch J; Tora R; Lack J; Warner A; Del Rivero J; Sadowski SM; Nilubol N; Schmidt LS; Linehan WM; Weinstein LS; Simonds WF; Agarwal SK
J Clin Endocrinol Metab; 2023 Sep; 108(10):2686-2698. PubMed ID: 36935552
[TBL] [Abstract][Full Text] [Related]
10. Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
Pradella LM; Lang M; Kurelac I; Mariani E; Guerra F; Zuntini R; Tallini G; MacKay A; Reis-Filho JS; Seri M; Turchetti D; Gasparre G
Eur J Hum Genet; 2013 Oct; 21(10):1169-72. PubMed ID: 23386036
[TBL] [Abstract][Full Text] [Related]
11. BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.
Hasumi H; Furuya M; Tatsuno K; Yamamoto S; Baba M; Hasumi Y; Isono Y; Suzuki K; Jikuya R; Otake S; Muraoka K; Osaka K; Hayashi N; Makiyama K; Miyoshi Y; Kondo K; Nakaigawa N; Kawahara T; Izumi K; Teranishi J; Yumura Y; Uemura H; Nagashima Y; Metwalli AR; Schmidt LS; Aburatani H; Linehan WM; Yao M
Hum Mol Genet; 2018 Aug; 27(15):2712-2724. PubMed ID: 29767721
[TBL] [Abstract][Full Text] [Related]
12. A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier.
Shank CG; Holtzclaw AW; Rosenberg AP; Ducummon Iii CC
Mil Med; 2024 Jun; ():. PubMed ID: 38829725
[TBL] [Abstract][Full Text] [Related]
13. Birt-Hogg-Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15-year-old.
Ardolino L; Silverstone E; Varjavandi V; Yates D
Respirol Case Rep; 2020 Aug; 8(6):e00610. PubMed ID: 32595975
[TBL] [Abstract][Full Text] [Related]
14. A familial case of Birt-Hogg-Dubé syndrome complicated with various cancers.
Goto Y; Tobino K; Munechika M; Yoshimatsu Y; Ide H; Tsuruno K
Respirol Case Rep; 2020 May; 8(4):e00549. PubMed ID: 32190329
[TBL] [Abstract][Full Text] [Related]
15. A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.
Shabet C; Kattapuram M; Burton A; Thoeny R; Nielsen H; Accardo ML; Smith EH; Koeppe E; Else T; Cha KB
Fam Cancer; 2024 Jun; ():. PubMed ID: 38822938
[TBL] [Abstract][Full Text] [Related]
16. A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker.
Uemasu K; Nyunoya T
Respirol Case Rep; 2024 Mar; 12(3):e01327. PubMed ID: 38523622
[TBL] [Abstract][Full Text] [Related]
17. Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report.
Babalola O; Steinwehr D; Kanchustambham V
SAGE Open Med Case Rep; 2024; 12():2050313X241251759. PubMed ID: 38803360
[TBL] [Abstract][Full Text] [Related]
18. Seventh BHD international symposium: recent scientific and clinical advancement.
Woodford MR; Andreou A; Baba M; van de Beek I; Di Malta C; Glykofridis I; Grimes H; Henske EP; Iliopoulos O; Kurihara M; Lazor R; Linehan WM; Matsumoto K; Marciniak SJ; Namba Y; Pause A; Rajan N; Ray A; Schmidt LS; Shi W; Steinlein OK; Thierauf J; Zoncu R; Webb A; Mollapour M
Oncotarget; 2022; 13():173-181. PubMed ID: 35070081
[TBL] [Abstract][Full Text] [Related]
19. FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland.
Isono Y; Furuya M; Kuwahara T; Sano D; Suzuki K; Jikuya R; Mitome T; Otake S; Kawahara T; Ito Y; Muraoka K; Nakaigawa N; Kimura Y; Baba M; Nagahama K; Takahata H; Saito I; Schmidt LS; Linehan WM; Kodama T; Yao M; Oridate N; Hasumi H
Biochem Biophys Res Commun; 2020 Feb; 522(4):931-938. PubMed ID: 31806376
[TBL] [Abstract][Full Text] [Related]
20. Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCN.
Zhang X; Cai M; Ma Y; Chen J; Huang S; Cai M; Ding Y; Ma D; Gao Q; Hu X; Zhu C; Yi L
J Mol Diagn; 2023 Feb; 25(2):110-120. PubMed ID: 36410626
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
