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Items: 1 to 20 of 73

1.

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.

Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, Balaji R, Zhang X, Song L, Wang Z, Laframboise T, Crawford GE, Scacheri PC.

Genome Res. 2009 Apr;19(4):590-601. doi: 10.1101/gr.086983.108. Epub 2009 Feb 27.

2.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH.

Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17.

3.

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA.

Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704.

PMID:
18978652
4.

Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II.

Srinivasan S, Dorighi KM, Tamkun JW.

PLoS Genet. 2008 Oct;4(10):e1000217. doi: 10.1371/journal.pgen.1000217. Epub 2008 Oct 10.

5.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.

6.

Anterior-posterior graded response to Otx2 controls proliferation and differentiation of dopaminergic progenitors in the ventral mesencephalon.

Omodei D, Acampora D, Mancuso P, Prakash N, Di Giovannantonio LG, Wurst W, Simeone A.

Development. 2008 Oct;135(20):3459-70. doi: 10.1242/dev.027003.

7.

Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.

Blustajn J, Kirsch CF, Panigrahy A, Netchine I.

AJNR Am J Neuroradiol. 2008 Aug;29(7):1266-9. doi: 10.3174/ajnr.A1099. Epub 2008 Apr 16.

8.

Horizontal basal cells are multipotent progenitors in normal and injured adult olfactory epithelium.

Iwai N, Zhou Z, Roop DR, Behringer RR.

Stem Cells. 2008 May;26(5):1298-306. doi: 10.1634/stemcells.2007-0891. Epub 2008 Feb 28.

9.

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.

J Clin Endocrinol Metab. 2008 Mar;93(3):920-4. Epub 2007 Dec 18.

PMID:
18089695
10.

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM.

Am J Med Genet A. 2008 Jan 1;146A(1):43-50.

PMID:
18074359
11.

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J.

Genet Med. 2007 Oct;9(10):690-4.

PMID:
18073582
12.

A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation.

Takada I, Mihara M, Suzawa M, Ohtake F, Kobayashi S, Igarashi M, Youn MY, Takeyama K, Nakamura T, Mezaki Y, Takezawa S, Yogiashi Y, Kitagawa H, Yamada G, Takada S, Minami Y, Shibuya H, Matsumoto K, Kato S.

Nat Cell Biol. 2007 Nov;9(11):1273-85. Epub 2007 Oct 21. Erratum in: Nat Cell Biol. 2012 Dec;14(12):1345. Retraction in: Nat Cell Biol. 2014 Nov;16(11):1126.

PMID:
17952062
13.

SMRT-mediated repression of an H3K27 demethylase in progression from neural stem cell to neuron.

Jepsen K, Solum D, Zhou T, McEvilly RJ, Kim HJ, Glass CK, Hermanson O, Rosenfeld MG.

Nature. 2007 Nov 15;450(7168):415-9. Epub 2007 Oct 10.

PMID:
17928865
14.

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.

Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26.

15.

Olfactory epithelium progenitors: insights from transgenic mice and in vitro biology.

Murdoch B, Roskams AJ.

J Mol Histol. 2007 Dec;38(6):581-99. Epub 2007 Sep 13. Review.

PMID:
17851769
16.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.

Clin Genet. 2007 Aug;72(2):112-21.

PMID:
17661815
17.

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM.

Mamm Genome. 2007 Feb;18(2):94-104. Epub 2007 Feb 28.

PMID:
17334657
18.

Use of the Brief Smell Identification Test for olfactory deficit in a Norwegian population with Alzheimer's disease.

Kjelvik G, Sando SB, Aasly J, Engedal KA, White LR.

Int J Geriatr Psychiatry. 2007 Oct;22(10):1020-4.

PMID:
17299804
19.

CHARGE syndrome: an update.

Sanlaville D, Verloes A.

Eur J Hum Genet. 2007 Apr;15(4):389-99. Epub 2007 Feb 14. Review.

20.

CHD5 is a tumor suppressor at human 1p36.

Bagchi A, Papazoglu C, Wu Y, Capurso D, Brodt M, Francis D, Bredel M, Vogel H, Mills AA.

Cell. 2007 Feb 9;128(3):459-75.

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