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Items: 1 to 20 of 36

1.

Genomic and clinical characteristics of microduplications in chromosome 17.

Shchelochkov OA, Cheung SW, Lupski JR.

Am J Med Genet A. 2010 May;152A(5):1101-10. doi: 10.1002/ajmg.a.33248. Review.

PMID:
20425816
2.

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

Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, Gunji Y, Kikkawa M, Iwakami S, Hino O, Takahashi K, Seyama K.

J Med Genet. 2010 Apr;47(4):281-7. doi: 10.1136/jmg.2009.070565.

3.

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

Hasumi Y, Baba M, Ajima R, Hasumi H, Valera VA, Klein ME, Haines DC, Merino MJ, Hong SB, Yamaguchi TP, Schmidt LS, Linehan WM.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18722-7. doi: 10.1073/pnas.0908853106.

4.

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.

Franke G, Bausch B, Hoffmann MM, Cybulla M, Wilhelm C, Kohlhase J, Scherer G, Neumann HP.

Hum Mutat. 2009 May;30(5):776-86. doi: 10.1002/humu.20948.

PMID:
19280651
5.

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

Takagi Y, Kobayashi T, Shiono M, Wang L, Piao X, Sun G, Zhang D, Abe M, Hagiwara Y, Takahashi K, Hino O.

Oncogene. 2008 Sep 11;27(40):5339-47. doi: 10.1038/onc.2008.261.

PMID:
18663353
6.

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V.

Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010.

PMID:
18503824
7.

Identification and characterization of a novel folliculin-interacting protein FNIP2.

Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, Schmidt LS.

Gene. 2008 May 31;415(1-2):60-7. doi: 10.1016/j.gene.2008.02.022.

8.

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

Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM.

J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Review.

9.

The nonsense-mediated decay RNA surveillance pathway.

Chang YF, Imam JS, Wilkinson MF.

Annu Rev Biochem. 2007;76:51-74. Review.

PMID:
17352659
10.

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

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B.

Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15552-7.

11.

Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing.

Yap KP, Ang P, Lim IH, Ho GH, Lee AS.

Clin Genet. 2006 Jul;70(1):80-2. No abstract available.

PMID:
16813611
12.

Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease.

Hattori K, Teranishi J, Stolle C, Yoshida M, Kondo K, Kishida T, Kanno H, Baba M, Kubota Y, Yao M.

Cancer Sci. 2006 May;97(5):400-5.

13.

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.

Ann Neurol. 2006 Feb;59(2):398-403.

PMID:
16374829
14.

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM.

J Natl Cancer Inst. 2005 Jun 15;97(12):931-5. Erratum in: J Natl Cancer Inst. 2005 Jul 20;97(14):1096.

15.

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM.

Am J Hum Genet. 2005 Jun;76(6):1023-33.

16.

Rapid detection of VHL exon deletions using real-time quantitative PCR.

Hoebeeck J, van der Luijt R, Poppe B, De Smet E, Yigit N, Claes K, Zewald R, de Jong GJ, De Paepe A, Speleman F, Vandesompele J.

Lab Invest. 2005 Jan;85(1):24-33.

17.

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.

McWhinney SR, Pilarski RT, Forrester SR, Schneider MC, Sarquis MM, Dias EP, Eng C.

J Clin Endocrinol Metab. 2004 Nov;89(11):5694-9.

PMID:
15531530
18.

Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.

Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS.

Mod Pathol. 2004 Aug;17(8):998-1011.

19.

Mechanism and regulation of human non-homologous DNA end-joining.

Lieber MR, Ma Y, Pannicke U, Schwarz K.

Nat Rev Mol Cell Biol. 2003 Sep;4(9):712-20. Review.

PMID:
14506474
20.

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE.

Hum Mol Genet. 2003 Aug 15;12(16):1959-71.

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