Dauber A - Search Results

1

Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.

Nilsson O, Isoherranen N, Guo MH, Lui JC, Jee YH, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski JA, Dauber A, Baron J. Nilsson O, et al. Among authors: dauber a. Horm Metab Res. 2016 Nov;48(11):737-744. doi: 10.1055/s-0042-114038. Epub 2016 Sep 2. Horm Metab Res. 2016. PMID: 27589347 Free PMC article. Review.

2

Growth Hormone Therapy in the Short SGA Child: Does Time Matter?

de Bruin C, Dauber A. de Bruin C, et al. Among authors: dauber a. J Clin Endocrinol Metab. 2023 Jun 16;108(7):e495-e496. doi: 10.1210/clinem/dgad021. J Clin Endocrinol Metab. 2023. PMID: 36638052 No abstract available.

3

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. 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.

4

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Guo MH, et al. Among authors: dauber a. Am J Med Genet A. 2013 Oct;161A(10):2519-27. doi: 10.1002/ajmg.a.36128. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956117 Free PMC article. Review.

5

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: dauber a. 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.

6

Whole exome sequencing to identify genetic causes of short stature.

Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Guo MH, et al. Among authors: dauber a. Horm Res Paediatr. 2014;82(1):44-52. doi: 10.1159/000360857. Epub 2014 Jun 20. Horm Res Paediatr. 2014. PMID: 24970356 Free PMC article. Clinical Trial.

7

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

Quintos JB, Guo MH, Dauber A. Quintos JB, et al. Among authors: dauber a. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. J Pediatr Endocrinol Metab. 2015. PMID: 25741789 Free PMC article.

8

Short and tall stature: a new paradigm emerges.

Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O. Baron J, et al. Among authors: dauber a. Nat Rev Endocrinol. 2015 Dec;11(12):735-46. doi: 10.1038/nrendo.2015.165. Epub 2015 Oct 6. Nat Rev Endocrinol. 2015. PMID: 26437621 Free PMC article. Review.

9

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA. de Bruin C, et al. Among authors: dauber a. Horm Res Paediatr. 2016;86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2. Horm Res Paediatr. 2016. PMID: 27245183 Free PMC article.

10

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Guo MH, et al. Among authors: dauber a. Am J Hum Genet. 2016 Sep 1;99(3):527-539. doi: 10.1016/j.ajhg.2016.06.031. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545677 Free PMC article.

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