Works matching DE "BIRT-Hogg-Dube syndrome"

Results: 88

Dermatological features identifying a new family with the cancer-prone Birt- Hogg- Dubé syndrome.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 931, doi. 10.1111/ced.12145

By:

Brehmer, F.;
Seitz, C. S.;
Schwarz, A.;
Engelke, C.;
Haenssle, H. A.;
Schön, M. P.;
Emmert, S.

Publication type:

Article

Pulmonary cystic disease associated with integumentary and renal manifestations.

Published in:

Journal of Biomedical Research, 2013, v. 27, n. 6, p. 515, doi. 10.7555/JBR.27.20130079

By:

Cayetano, Katherine S.;
Albertson, Timothy E.;
Chan, Andrew L.

Publication type:

Article

Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209504

By:

Sattler, Elke C.;
Reithmair, Marlene;
Steinlein, Ortrud K.

Publication type:

Article

Splice-site mutation causing partial retention of intron in the <italic>FLCN</italic> gene in Birt-Hogg-Dubé syndrome: a case report.

Published in:

2018

By:

Furuya, Mitsuko;
Kobayashi, Hironori;
Baba, Masaya;
Ito, Takaaki;
Tanaka, Reiko;
Nakatani, Yukio

Publication type:

Case Study

HEMOPTYSIS AFTER COVID-19 AND THE IMPORTANCE OF DIFFERENTIAL DIAGNOSIS: BIRT-HOGG-DUBÉ SYNDROME.

Published in:

Medicina (Buenos Aires), 2023, v. 83, n. 2, p. 311

By:

RUIZ, VICTORIA;
BUJAN, LUCAS;
KALFAYAN, PABLO G.;
SEEHAUS, ALBERTO;
BISSO, INDALECIO CARBONI;
LAS HERAS, MARCOS

Publication type:

Article

A Lesson in Screening For Hereditary Kidney Cancer Syndromes.

Published in:

Urologic Nursing, 2019, v. 39, n. 3, p. 141, doi. 10.7257/1053-816X.2019.39.3.141

By:

Curry, Cindy

Publication type:

Article

A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome.

Published in:

2018

By:

Mizobuchi, Teruaki;
Kurihara, Masatoshi;
Ebana, Hiroki;
Yamanaka, Sumitaka;
Kataoka, Hideyuki;
Okamoto, Shouichi;
Kobayashi, Etsuko;
Kumasaka, Toshio;
Seyama, Kuniaki

Publication type:

journal article

Not just a cosmetic problem: facial papules in Birt-Hogg-Dubé syndrome.

Published in:

2016

By:

Ge, Ludi;
Lowe, Patricia

Publication type:

journal article

Triads in dermatology.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2012, v. 78, n. 5, p. 657, doi. 10.4103/0378-6323.100570

By:

Madke, Bhushan;
Nayak, Chitra

Publication type:

Article

Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation.

Published in:

Respirology Case Reports, 2016, v. 4, n. 6, p. n/a, doi. 10.1002/rcr2.199

By:

Wiyono, Wiwien Heru;
Nurwidya, Fariz;
Baskoro, Hario;
Putra, Andika Chandra

Publication type:

Article

Birt-Hogg-Dubé syndrome.

Published in:

European Respiratory Review, 2020, v. 29, n. 157, p. 1, doi. 10.1183/16000617.0042-2020

By:

Daccord, Cécile;
Good, Jean-Marc;
Morren, Marie-Anne;
Bonny, Olivier;
Hohl, Daniel;
Lazor, Romain

Publication type:

Article

Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dubé Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099071

By:

Gijezen, Lieke M. C.;
Vernooij, Marigje;
Martens, Herm;
Oduber, Charlene E. U.;
Henquet, Charles J. M.;
Starink, Theo M.;
Prins, Martin H.;
Menko, Fred H.;
Nelemans, Patty J.;
van Steensel, Maurice A. M.

Publication type:

Article

Folliculin Contributes to VHL Tumor Suppressing Activity in Renal Cancer through Regulation of Autophagy.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070030

By:

Bastola, Prabhat;
Stratton, Yiwen;
Kellner, Emily;
Mikhaylova, Olga;
Yi, Ying;
Sartor, Maureen A.;
Medvedovic, Mario;
Biesiada, Jacek;
Meller, Jarek;
Czyzyk-Krzeska, Maria F.

Publication type:

Article

Human Folliculin Delays Cell Cycle Progression through Late S and G2/M-Phases: Effect of Phosphorylation and Tumor Associated Mutations.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0066775

By:

Laviolette, Laura A.;
Wilson, Jonas;
Koller, Julia;
Neil, Christopher;
Hulick, Peter;
Rejtar, Tomas;
Karger, Barry;
Teh, Bin Tean;
Iliopoulos, Othon

Publication type:

Article

Genetic Characterization of the <i>Drosophila</i> Birt-Hogg-Dubé Syndrome Gene.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065869

By:

Liu, Wei;
Chen, Zhi;
Ma, Yansen;
Wu, Xiaochun;
Jin, Yaping;
Hou, Steven

Publication type:

Article

A Remarkable Case of Micro-Endemism in Laonastes aenigmamus (Diatomyidae, Rodentia) Revealed by Nuclear and Mitochondrial DNA Sequence Data.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048145

By:

Nicolas, Violaine;
Herbreteau, Vincent;
Couloux, Arnaud;
Keovichit, Kham;
Douangboupha, Bounneuang;
Hugot, Jean-Pierre

Publication type:

Article

Pulmonary Bullae as an Indicator of an Elevated Risk of Renal Carcinoma.

Published in:

Deutsches Ärzteblatt International, 2018, v. 115, n. 17, p. 294, doi. 10.3238/arztebl.2018.0294

By:

Steinlein, Ortrud K.;
Ertl-Wagner, Birgit;
Sattler, Elke C.

Publication type:

Article

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

Published in:

2016

By:

Xinxin Zhang;
Dehua Ma;
Wei Zou;
Yibing Ding;
Chengchu Zhu;
Haiyan Min;
Bin Zhang;
Wei Wang;
Baofu Chen;
Minhua Ye;
Minghui Cai;
Yanqing Pan;
Lei Cao;
Yueming Wan;
Yu Jin;
Qian Gao;
Long Yi;
Zhang, Xinxin;
Ma, Dehua;
Zou, Wei

Publication type:

journal article

Birt-Hogg-Dubé syndrome: a large single family cohort.

Published in:

2016

By:

Skolnik, Kate;
Tsai, Willis H.;
Dornan, Kimberly;
Perrier, Renée;
Burrowes, Paul W.;
Davidson, Warren J.

Publication type:

journal article

Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN.

Published in:

JNCI: Journal of the National Cancer Institute, 2012, v. 104, n. 22, p. 1750, doi. 10.1093/jnci/djs418

By:

Hasumi, Hisashi;
Baba, Masaya;
Hasumi, Yukiko;
Huang, Ying;
Oh, Hyoungbin;
Hughes, Robert M.;
Klein, Mara E.;
Takikita, Shoichi;
Nagashima, Kunio;
Schmidt, Laura S.;
Linehan, W. Marston

Publication type:

Article

Birt-Hogg-Dubé Syndrome: CT Findings of an Under Recognized Disease Requiring Multidisciplinary Approach.

Published in:

2016

By:

Cimsit, Canan;
Eryuksel, Emel;
Cimsit, Nuri Cagatay;
Olgun, Sehnaz;
Seckin, Dilek;
Saricam, Merve Hatun;
Demirkesen, Cuyan

Publication type:

Case Study

An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.

Published in:

Clinical Endocrinology, 2014, v. 80, n. 6, p. 925, doi. 10.1111/cen.12292

By:

Raymond, Victoria M.;
Long, Jessica M.;
Everett, Jessica N.;
Caoili, Elaine M.;
Gruber, Stephen B.;
Stoffel, Elena M.;
Giordano, Thomas J.;
Hammer, Gary D.;
Else, Tobias

Publication type:

Article

Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 5, p. e294, doi. 10.1111/pde.12945

By:

Sprague, Jessica;
Landau, Joseph W.

Publication type:

Article

Renal Manifestation of Birt-Hogg-Dubé Syndrome Depicted by 18F-fludeoxyglucose Positron Emission Tomography/Computed Tomography in a Patient with Hurtle Cell Thyroid Malignancy.

Published in:

World Journal of Nuclear Medicine, 2018, v. 17, n. 2, p. 123, doi. 10.4103/wjnm.WJNM_93_16

By:

Panagiotidis, Emmanouil;
Seshadri, Nagabhushan;
Vinjamuri, Sobhan

Publication type:

Article

Facial and Upper Body Papules in a Patient With a Family History of Recurrent Pneumothorax.

Published in:

JAMA: Journal of the American Medical Association, 2012, v. 308, n. 24, p. 2622, doi. 10.1001/jama.2012.91099

By:

Felton, Sarah J.;
Madan, Vishal

Publication type:

Article

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 403, doi. 10.1111/cge.12807

By:

Furuya, Mitsuko;
Yao, Masahiro;
Tanaka, Reiko;
Nagashima, Yoji;
Kuroda, Naoto;
Hasumi, Hisashi;
Baba, Masaya;
Matsushima, Jun;
Nomura, Fumio;
Nakatani, Yukio

Publication type:

Article

Parotid Oncocytoma in Birt-Hogg-Dube Syndrome: A New Pitfall in <sup>18</sup>F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Imaging Study.

Published in:

Pertanika Journal of Science & Technology, 2016, v. 24, n. 1, p. 225

By:

Subha, Sethu Thakachy;
Nordin, Abdul Jalil;
Mohtarrudin, Norhafizah;
Saad, Fathinul Fikri Ahmad

Publication type:

Article

Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.

Published in:

2022

By:

Zhang, Guofeng;
Liu, Jinli;
Wang, Yushuo;
Wang, Yue;
Jiang, Xianliang;
Peng, Yan;
Xiao, Jun;
Wei, Wei;
Shen, Bing;
Yi, Long;
Ryu, Jay H.;
Hu, Xiaowen

Publication type:

journal article

Familial Birt-Hogg-Dubé syndrome.

Published in:: 2018
Publication type:: Case Study

Renal tumor associated with pulmonary cysts: Birt–Hogg–Dubé syndrome.

Published in:

QJM: An International Journal of Medicine, 2014, v. 107, n. 10, p. 851, doi. 10.1093/qjmed/hcu048

By:

Escuissato, D.L.;
de Almeida Teixeira, B.C.;
Warszwiak, D.;
Zanetti, G.;
Marchiori, E.

Publication type:

Article

An inherited cause of pneumothorax—the Birt–Hogg–Dubé syndrome.

Published in:

QJM: An International Journal of Medicine, 2014, v. 107, n. 5, p. 393, doi. 10.1093/qjmed/hct157

By:

Zenone, T.

Publication type:

Article

Primary spontaneous pneumothorax and the Birt-Hogg-Dubé syndrome.

Published in:

Journal of Postgraduate Medicine, 2013, v. 59, n. 4, p. 324

By:

Koul, P.A.

Publication type:

Article

Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome.

Published in:

Journal of Postgraduate Medicine, 2013, v. 59, n. 4, p. 321, doi. 10.4103/0022-3859.123169

By:

C. Y. Yang;
H. C. Wang;
J. S. Chen;
C. J. Yu

Publication type:

Article

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

Published in:

World Journal of Urology, 2018, v. 36, n. 12, p. 1891, doi. 10.1007/s00345-018-2288-5

By:

Maher, Eamonn R.

Publication type:

Article

The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.

Published in:

Respiration, 2019, v. 98, n. 2, p. 125, doi. 10.1159/000498973

By:

Torricelli, Elena;
Occhipinti, Mariaelena;
Cavigli, Edoardo;
Tancredi, Giorgia;
Rosi, Elisabetta;
Rossi, Cesare;
Bonaguro, Michela;
Candita, Luisa;
Papi, Laura;
Novelli, Luca;
Bezzi, Michela;
Bargagli, Elena;
Voltolini, Luca;
Pistolesi, Massimo

Publication type:

Article

Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.

Published in:

Respiration, 2017, v. 94, n. 6, p. 467, doi. 10.1159/000485106

By:

Daccord, Cécile;
Nicod, Laurent P.;
Lazor, Romain

Publication type:

Article

Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome.

Published in:

Case Reports in Surgery, 2015, v. 2015, p. 1, doi. 10.1155/2015/916039

By:

Tamburrini, Alessandro;
Sellitri, Francesco;
Tacconi, Federico;
Brancati, Francesco;
Mineo, Tommaso Claudio

Publication type:

Article

Birt-Hogg-Dube syndrome coexisting with bullous pemphigoid and basal cell carcinoma.

Published in:

Dermatology Review / Przeglad Dermatologiczny, 2021, v. 108, n. 6, p. 534, doi. 10.5114/dr.2021.114607

By:

Stroynowska-Kosik, Jagoda;
Pałdyna, Magalena;
Biało-Wójcicka, Ewelina

Publication type:

Article

Birt-Hogg-Dubé syndrome.

Published in:

Dermatology Review / Przeglad Dermatologiczny, 2021, v. 108, n. 4, p. 285, doi. 10.5114/dr.2021.110784

By:

Ptak, Bartosz;
Wąsik, Grażyna

Publication type:

Article

Genetic Analysis of Familial Spontaneous Pneumothorax in an Indian Family.

Published in:

2015

By:

Ray, Anindita;
Paul, Suman;
Chattopadhyay, Esita;
Kundu, Susmita;
Roy, Bidyut

Publication type:

Report

Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome.

Published in:

2014

By:

Johannesma, P. C.;
van Moorselaar, R. J. A.;
Horenblas, S.;
van der Kolk, L. E.;
Thunnissen, E.;
van Waesberghe, J. H. T. M.;
Menko, F. H.;
Postmus, P. E.

Publication type:

Case Study

Staged, Open, No-Ischemia Nephron-Sparing Surgery for Bilateral-Multiple Kidney Tumors in a Patient with Birt-Hogg-Dubé Syndrome.

Published in:

Case Reports in Medicine, 2012, p. 1, doi. 10.1155/2012/639629

By:

Tefekli, Ahmet;
Akkaya, Ayşe Deniz;
Peker, Kamil;
Gümüş, Terman;
Vural, Metin;
Cezayirli, Fatin;
Musaoglu, Ahmet;
Esen, Tarık

Publication type:

Article

Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170713

By:

Park, Hye Jung;
Park, Chul Hwan;
Lee, Sang Eun;
Lee, Geun Dong;
Byun, Min Kwang;
Lee, Sungsoo;
Lee, Kyung-A;
Kim, Tae Hoon;
Kim, Seong Han;
Yang, Seo Yeon;
Kim, Hyung Jung;
Ahn, Chul Min

Publication type:

Article

Birt-Hogg-Dubé Syndrome: Another Battle for a Retired Navy Seal.

Published in:

2017

By:

Simpson, Meagan M.;
Calais, Charles J.;
Mikita, Cecilia P.;
Gratrix, Max L.

Publication type:

journal article

The Case | Bilateral kidney tumors and lung cysts.

Published in:

Kidney International, 2013, v. 83, n. 2, p. 337, doi. 10.1038/ki.2012.366

By:

Tarafdar, Surjit;
Gleadle, Jonathon M

Publication type:

Article

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

Published in:

2017

By:

Yaping Liu;
Zhiyan Xu;
Ruie Feng;
Yongzhong Zhan;
Jun Wang;
Guozhen Li;
Xue Li;
Weihong Zhang;
Xiaowen Hu;
Xinlun Tian;
Kai-Feng Xu;
Xue Zhang;
Liu, Yaping;
Xu, Zhiyan;
Feng, Ruie;
Zhan, Yongzhong;
Wang, Jun;
Li, Guozhen;
Li, Xue;
Zhang, Weihong

Publication type:

journal article

Partial pleural covering for intractable pneumothorax in patients with Birt- Hogg- Dubé Syndrome.

Published in:

Clinical Respiratory Journal, 2017, v. 11, n. 2, p. 224, doi. 10.1111/crj.12328

By:

Okada, Akira;
Hirono, Tatsuhiko;
Watanabe, Takehiro;
Hasegawa, Go;
Tanaka, Reiko;
Furuya, Mitsuko

Publication type:

Article

Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.

Published in:

2017

By:

Shengyu Hao;
Fei Long;
Fenglan Sun;
Teng Liu;
Daowei Li;
Shujuan Jiang;
Hao, Shengyu;
Long, Fei;
Sun, Fenglan;
Liu, Teng;
Li, Daowei;
Jiang, Shujuan

Publication type:

journal article

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.

Published in:

2017

By:

Gupta, Nishant;
Langenderfer, Dale;
McCormack, Francis X.;
Schauer, Daniel P.;
Eckman, Mark H.

Publication type:

journal article

Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells.

Published in:

Physiological Reports, 2014, v. 2, n. 8, p. n/a, doi. 10.14814/phy2.12107

By:

Khabibullin, Damir;
Medvetz, Douglas A.;
Pinilla, Miguel;
Hariharan, Venkatesh;
Li, Chenggang;
Hergrueter, Anja;
Laucho Contreras, Maria;
Zhang, Erik;
Parkhitko, Andrey;
Yu, Jane J.;
Owen, Caroline A.;
Huang, Hayden;
Baron, Rebecca M.;
Henske, Elizabeth P.

Publication type:

Article