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  • Showing 1-8 of 8 Results
2014
Central Precocious Puberty that appears to be sporadic caused by Paternally inherited mutations in the imprinted GENE makorin ring finger 3.Macedo, DB, Abreu AP, Reis AC, Montenegro LR, Dauber A., Beneduzzi D., Cukier P., Silveira LF, Teles MG, Carroll RS, Guerra Junior G., Guaragna Filho G., Gucev Z., Arnhold IJ, de Castro M., Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, et al. The Journal of clinical endocrinology and metabolism, 2014/03/14, p.jc20133126, (2014) Read More / View Supplemental Materials
Abstract
2013
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., and Dauber A. The Journal of clinical endocrinology and metabolism, 2013/11/15, (2013) Read More / View Supplemental Materials
Abstract
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.Dauber, A., Golzio C., Guenot C., Jodelka FM, Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk MJ, Rosenfeld JA, Zeesman S., Zunich J., Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S., and Katsanis N. American journal of human genetics, 2013/11/07, Volume 93, Issue 5, p.798-811, (2013) Read More / View Supplemental Materials
Abstract
Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3.Abreu, AP, Dauber A., Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P., Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T., Kochi C., Longui CA, Beckers D., de Zegher F., Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, et al. The New England journal of medicine, 2013/06/27, Volume 368, Issue 26, p.2467-2475, (2013) Read More / View Supplemental Materials
Abstract
2012
Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder.Dauber, A., Stoler J., Hechter E., Safer J., and Hirschhorn JN The Journal of pediatrics, 2012/09/10, (2012) Read More / View Supplemental Materials
Abstract
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, and Hwa V. The Journal of clinical endocrinology and metabolism, 2012/08/29, (2012) Read More / View Supplemental Materials
Abstract
2011
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.Dauber, A., Yu Y., Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y., Wu BL, and Hirschhorn JN American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011) Read More / View Supplemental Materials
Abstract
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, and Hirschhorn JN The Journal of clinical endocrinology and metabolism, 2011/11/23, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-8 of 8 Results