-
2
-
-
14344251519
-
An epi-demiological analysis of CHARGE syndrome: Preliminary results from a canadian study
-
Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD An epi-demiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. 2005; 133A:309-317.
-
(2005)
Am J Med Genet A
, vol.133 A
, pp. 309-317
-
-
Issekutz, K.A.1
Graham Jr., J.M.2
Prasad, C.3
Smith, I.M.4
Blake, K.D.5
-
3
-
-
33645781251
-
CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene
-
Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43:306-314.
-
(2006)
J Med Genet.
, vol.43
, pp. 306-314
-
-
Jongmans, M.C.1
Admiraal, R.J.2
Van Der Donk, K.P.3
-
4
-
-
16544384819
-
SEMA3E mutation in a patient with CHARGE syndrome
-
Lalani SR, Safiullah AM, Molinari L.M., Fernbach SD, Martin DM, Belmont JW SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004; 41(7):e94.
-
(2004)
J Med Genet.
, vol.41
, Issue.7
-
-
Lalani, S.R.1
Safiullah, A.M.2
Molinari, L.M.3
Fernbach, S.D.4
Martin, D.M.5
Belmont, J.W.6
-
5
-
-
64149122182
-
Genomic distribution of CHD7 on chromatin tracks of H3K4 methylation patterns
-
Schnetz MP, Bartels CF, Shastri K, et al Genomic distribution of CHD7 on chromatin tracks of H3K4 methylation patterns. Genome Res. 2009; 19:590-601.
-
(2009)
Genome Res.
, vol.19
, pp. 590-601
-
-
Schnetz, M.P.1
Bartels, C.F.2
Shastri, K.3
-
6
-
-
80053385843
-
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotrophic hypo-gonadism and kallmann syndrome
-
Kim HG, Layman LC The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotrophic hypo-gonadism and Kallmann syndrome. Mol Cell Endocrinol. 2011; 346(1-2):74-83.
-
(2011)
Mol Cell Endocrinol.
, vol.346
, Issue.1-2
, pp. 74-83
-
-
Kim, H.G.1
Layman, L.C.2
-
7
-
-
77954587234
-
Chromodomain proteins in development: Lessons from CHARGE syndrome
-
Layman WS, Hurd EA, Martin DM Chromodomain proteins in development: lessons from CHARGE syndrome. Clin Genet. 2010; 78(1):11-20.
-
(2010)
Clin Genet.
, vol.78
, Issue.1
, pp. 11-20
-
-
Layman, W.S.1
Hurd, E.A.2
Martin, D.M.3
-
8
-
-
33947266958
-
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 M.N., et al Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome. 2007; 18(2):94-104.
-
(2007)
Mamm Genome
, vol.18
, Issue.2
, pp. 94-104
-
-
Hurd, E.A.1
Capers, P.L.2
Blauwkamp, M.N.3
-
9
-
-
37549039003
-
Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
-
Jongmans MC, Hoefsloot LH, van der Donk KP, et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A. 2008; 146A(1):43-50.
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.1
, pp. 43-50
-
-
Jongmans, M.C.1
Hoefsloot, L.H.2
Van Der Donk, K.P.3
-
10
-
-
33645128921
-
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
-
Sanlavile D, Etchevers HC, Gonzales M, et al Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Gen. 2006; 43(3):211-217.
-
(2006)
J Med Gen
, vol.43
, Issue.3
, pp. 211-217
-
-
Sanlavile, D.1
Etchevers, H.C.2
Gonzales, M.3
-
11
-
-
79960802234
-
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome
-
Layman WS, Hurd EA, Martin DM Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet. 2011; 20(16):3138-3150.
-
(2011)
Hum Mol Genet.
, vol.20
, Issue.16
, pp. 3138-3150
-
-
Layman, W.S.1
Hurd, E.A.2
Martin, D.M.3
-
12
-
-
53249149000
-
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and kallmann syndrome
-
Kim HG, Kurth I, Lan F., et al Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008; 83(4):511-519.
-
(2008)
Am J Hum Genet.
, vol.83
, Issue.4
, pp. 511-519
-
-
Kim, H.G.1
Kurth, I.2
Lan, F.3
-
13
-
-
77957344798
-
CHD7 targets active gene enhancer elements to modulate ES cell-specific geneexpression
-
Schnetz MP, Handoko L, Akhtar-Zaidi B, et al CHD7 targets active gene enhancer elements to modulate ES cell-specific geneexpression. PLoS Genet. 2010; 6(7):e1001023.
-
(2010)
PLoS Genet.
, vol.6
, Issue.7
-
-
Schnetz, M.P.1
Handoko, L.2
Akhtar-Zaidi, B.3
-
14
-
-
79957600785
-
Sox2 cooperates with chd7 to regulate genes that are mutated in human syndromes
-
Engelen E, Akinci U, Bryne J.C., et al Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet. 2011; 43(6):607-611.
-
(2011)
Nat Genet.
, vol.43
, Issue.6
, pp. 607-611
-
-
Engelen, E.1
Akinci, U.2
Bryne, J.C.3
-
15
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
Williamson KA, Hever AM, Rainger J, et al Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006; 15(9):1413-1422.
-
(2006)
Hum Mol Genet.
, vol.15
, Issue.9
, pp. 1413-1422
-
-
Williamson, K.A.1
Hever, A.M.2
Rainger, J.3
-
16
-
-
33748298959
-
Mutations within sox2/ SOX2 are associated with Abnormalities in the hypothalamo-pitu-itary-gonadal axis in mice and humans
-
Kelberman D, Rizzoti K, Avilion A., et al Mutations within Sox2/ SOX2 are associated with abnormalities in the hypothalamo-pitu-itary-gonadal axis in mice and humans. J Clin Invest. 2006; 116(9): 2442-2455.
-
(2006)
J Clin Invest.
, vol.116
, Issue.9
, pp. 2442-2455
-
-
Kelberman, D.1
Rizzoti, K.2
Avilion, A.3
-
17
-
-
79952524771
-
Septo-optic dysplasia and other midline defects: The role of transcription factors: Hesx1 and beyond
-
McCabe MJ, Alatzoglou KS, Dattani MT Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011; 25(1):115-124.
-
(2011)
Best Pract Res Clin Endocrinol Metab.
, vol.25
, Issue.1
, pp. 115-124
-
-
McCabe, M.J.1
Alatzoglou, K.S.2
Dattani, M.T.3
-
18
-
-
84861995511
-
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption
-
Reynaud R, Jayakody SA, Monnier C, et al PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012; 97(6):E1068-E1073.
-
(2012)
J Clin Endocrinol Metab.
, vol.97
, Issue.6
-
-
Reynaud, R.1
Jayakody, S.A.2
Monnier, C.3
-
19
-
-
26244436980
-
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development
-
Pinto G, Abadie V, Mesnage R., et al CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab. 2005; 90(10):5621-5626.
-
(2005)
J Clin Endocrinol Metab.
, vol.90
, Issue.10
, pp. 5621-5626
-
-
Pinto, G.1
Abadie, V.2
Mesnage, R.3
-
20
-
-
0042320558
-
CHARGE association and secondary hypoadrenalism
-
James PA, Aftimos S, Hofman P. CHARGE association and secondary hypoadrenalism. Am J Med Genet A. 2003; 117A(2):177-180.
-
(2003)
Am J Med Genet A
, vol.117 A
, Issue.2
, pp. 177-180
-
-
James, P.A.1
Aftimos, S.2
Hofman, P.3
-
21
-
-
40849095911
-
Endocrine and radiological studiesinpatients with molecularly confirmed CHARGE syndrome
-
Asakura Y, Toyota Y, Muroya K., et al Endocrine and radiological studiesinpatients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab. 2008; 93(3):920-924.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, Issue.3
, pp. 920-924
-
-
Asakura, Y.1
Toyota, Y.2
Muroya, K.3
-
22
-
-
78049517995
-
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ec-topic posterior pituitary lobe without holoprosencephaly
-
França M.M., Jorge AA, Carvalho L.R., et al Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ec-topic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010; 95(11):E384-E391.
-
(2010)
J Clin Endocrinol Metab.
, vol.95
, Issue.11
-
-
França, M.M.1
Jorge, A.A.2
Carvalho, L.R.3
-
23
-
-
84867145497
-
SOX2 regulates the hypothalamic-pituitary axis at multiple levels
-
Jayakody S, Andoniadou CL, Gaston-Massuet C, et al SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest. 2012; 122(10):3635-3646.
-
(2012)
J Clin Invest.
, vol.122
, Issue.10
, pp. 3635-3646
-
-
Jayakody, S.1
Andoniadou, C.L.2
Gaston-Massuet, C.3
-
24
-
-
65549097631
-
Defectsinneural stemcell proliferation and olfaction in chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
-
Layman WS, McEwen DP, Beyer L.A., et al Defectsinneural stemcell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009; 18(11):1909-1923.
-
(2009)
Hum Mol Genet.
, vol.18
, Issue.11
, pp. 1909-1923
-
-
Layman, W.S.1
McEwen, D.P.2
Beyer, L.A.3
-
25
-
-
84860732965
-
The results of CHD7 analysis in clinically well-characterized patients with kallmann syndrome
-
Bergman JE, deRonde W, Jongmans M.C., et al The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012; 97(5):E858-E862.
-
(2012)
J Clin Endocrinol Metab.
, vol.97
, Issue.5
-
-
Bergman, J.E.1
De Ronde, W.2
Jongmans, M.C.3
-
26
-
-
73249143539
-
Genetic regulation of pituitary gland development in human and mouse
-
Kelberman D, Rizzoti K, Lovell-Badge R, Robinson I.C., Dattani MT Genetic regulation of pituitary gland development in human and mouse. Endocr Rev. 2009; 30(7):790-829.
-
(2009)
Endocr Rev.
, vol.30
, Issue.7
, pp. 790-829
-
-
Kelberman, D.1
Rizzoti, K.2
Lovell-Badge, R.3
Robinson, I.C.4
Dattani, M.T.5
-
27
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
Lalani SR, Safiulla AM, Fernback S.D., et al Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78(2):303-314.
-
(2006)
Am J Hum Genet.
, vol.78
, Issue.2
, pp. 303-314
-
-
Lalani, S.R.1
Safiulla, A.M.2
Fernback, S.D.3
|