Literature DB >> 17034545

A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome.

D Bessis1, S Giraud, S Richard.   

Abstract

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Year:  2006        PMID： 17034545     DOI： 10.1111/j.1365-2133.2006.07449.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  13 in total

Review 1.  Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Nat Rev Urol       Date:  2015-09-01       Impact factor: 14.432

2.  The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Authors:  Ming-Hui Wei; Patrick W Blake; Julia Shevchenko; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

Review 3.  Spontaneous pneumothorax in diffuse cystic lung diseases.

Authors:  Joseph Cooley; Yun Chor Gary Lee; Nishant Gupta
Journal:  Curr Opin Pulm Med       Date:  2017-07       Impact factor: 3.155

4.  Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Authors:  Makiko Kunogi; Masatoshi Kurihara; Takako Shigihara Ikegami; Toshiyuki Kobayashi; Noriko Shindo; Toshio Kumasaka; Yoko Gunji; Mika Kikkawa; Shin-ichiro Iwakami; Okio Hino; Kazuhisa Takahashi; Kuniaki Seyama
Journal:  J Med Genet       Date:  2010-04       Impact factor: 6.318

5.  Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

Authors:  Yoko Gunji; Taeko Akiyoshi; Teruhiko Sato; Masatoshi Kurihara; Shigeru Tominaga; Kazuhisa Takahashi; Kuniaki Seyama
Journal:  J Med Genet       Date:  2007-05-11       Impact factor: 6.318

6.  Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Expert Opin Orphan Drugs       Date:  2014-11-29       Impact factor: 0.694

Review 7.  BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Authors:  J R Toro; M-H Wei; G M Glenn; M Weinreich; O Toure; C Vocke; M Turner; P Choyke; M J Merino; P A Pinto; S M Steinberg; L S Schmidt; W M Linehan
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

8.  Folliculin mutations are not associated with severe COPD.

Authors:  Michael H Cho; Barbara J Klanderman; Augusto A Litonjua; David Sparrow; Edwin K Silverman; Benjamin A Raby
Journal:  BMC Med Genet       Date:  2008-12-30       Impact factor: 2.103

9.  Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.

Authors:  Paul C Johannesma; Ben E E M van den Borne; Johannes J P Gille; Ad F Nagelkerke; JanHein T M van Waesberghe; Marinus A Paul; R Jeroen A van Moorselaar; Fred H Menko; Pieter E Postmus
Journal:  BMC Pediatr       Date:  2014-07-03       Impact factor: 2.125

10.  A rare cause of cystic lung disease - Birt-Hogg-Dubé syndrome.

Authors:  P Minnis; P Riddell; M P Keane
Journal:  Respir Med Case Rep       Date:  2016-05-29
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