Hirschhorn JN - Search Results

1

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Thaker VV, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17. J Clin Endocrinol Metab. 2015. PMID: 25781356 Free PMC article.

2

Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN. Gajdos ZK, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2008 Nov;93(11):4290-8. doi: 10.1210/jc.2008-0981. Epub 2008 Aug 26. J Clin Endocrinol Metab. 2008. PMID: 18728166 Free PMC article.

3

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Dauber A, et al. Among authors: hirschhorn jn. Pediatrics. 2010 Dec;126(6):e1594-8. doi: 10.1542/peds.2010-0164. Epub 2010 Nov 1. Pediatrics. 2010. PMID: 21041284

4

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Dauber A, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74. doi: 10.1210/jc.2011-1972. Epub 2011 Nov 23. J Clin Endocrinol Metab. 2012. PMID: 22112808 Free PMC article.

5

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.

6

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.

Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A. Carmichael H, et al. Among authors: hirschhorn jn. Clin Genet. 2013 Sep;84(3):213-22. doi: 10.1111/cge.12064. Epub 2012 Dec 20. Clin Genet. 2013. PMID: 23167750 Free PMC article. Review.

7

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

Wang SR, Carmichael H, Andrew SF, Miller TC, Moon JE, Derr MA, Hwa V, Hirschhorn JN, Dauber A. Wang SR, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2013 Aug;98(8):E1428-37. doi: 10.1210/jc.2013-1534. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771920 Free PMC article.

8

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. Batey L, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2014 Jan;99(1):E153-9. doi: 10.1210/jc.2013-3106. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24243634 Free PMC article.

9

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.

Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R. Dauber A, et al. Among authors: hirschhorn jn. Hum Mol Genet. 2014 Jun 1;23(11):2880-7. doi: 10.1093/hmg/ddu001. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403049 Free PMC article.

10

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Nilsson O, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24. J Clin Endocrinol Metab. 2014. PMID: 24762113 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

373 results

Search Page

Filters