Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. - Wikidata - awgldk - TriplyDB

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

http://www.wikidata.org/entity/Q34785861

about

Diagnosis and management of BHD-associated kidney cancer Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax Hereditary kidney cancer syndromes.Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome.Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.FLCN: The causative gene for Birt-Hogg-Dubé syndrome.Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma.Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

P2860

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P2860

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

http://www.wikidata.org/entity/Q34785861

description

2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Identification of intragenic d ...... ne in Birt-Hogg-Dubé syndrome.

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Genes, Chromosomes and Cancer

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Identification of intragenic d ...... ene in Birt-Hogg-Dubé syndrome

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P2093

Avni Santani

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Catherine A Stolle

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Cathy D Vocke

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Jihane N Benhammou

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Kuniaki Seyama

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Laura S Schmidt

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Susana Korolevich

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W Marston Linehan

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Xiaolin Wu

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P2860

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein

Identification and characterization of a novel folliculin-interacting protein FNIP2

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

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

The nonsense-mediated decay RNA surveillance pathway

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

Alu repeats and human disease

Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

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466-477

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scholarly article

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10.1002/GCC.20872

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6

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50

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Katherine L Nathanson

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2011-03-15T00:00:00Z

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50410434

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21412933

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3075348

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