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Items: 1 to 20 of 81


Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP.

Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.


DLK1 is a novel link between reproduction and metabolism.

Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC.

J Clin Endocrinol Metab. 2018 Nov 19. doi: 10.1210/jc.2018-02010. [Epub ahead of print]


Non-classical growth hormone insensitivity (GHI): characterization of mild abnormalities of GH action.

Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V.

Endocr Rev. 2018 Sep 27. doi: 10.1210/er.2018-00146. [Epub ahead of print]


Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.

Brightman DS, Ejaz S, Dauber A.

Clin Case Rep. 2018 Jun 21;6(8):1531-1534. doi: 10.1002/ccr3.1655. eCollection 2018 Aug.


Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Huang Z, Sun Y, Fan Y, Wang L, Liu H, Gong Z, Wang J, Yan H, Wang Y, Hu G, Wang R, Ye J, Han L, Qiu W, Zhang H, Liang L, Yang Y, Dauber A, Yu Y, Gu XF.

Cell Physiol Biochem. 2018;49(1):295-305. doi: 10.1159/000492879. Epub 2018 Aug 23.


The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Globa E, Zelinska N, Dauber A.

Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.


Insights and Implications of Genome-Wide Association Studies of Height.

Guo MH, Hirschhorn JN, Dauber A.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3155-3168. doi: 10.1210/jc.2018-01126.


PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence.

Andrew M, Liao L, Fujimoto M, Khoury J, Hwa V, Dauber A.

J Endocr Soc. 2018 May 28;2(7):646-656. doi: 10.1210/js.2018-00106. eCollection 2018 Jul 1.


Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V.

Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0.


Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

Kim A, Fujimoto M, Hwa V, Backeljauw P, Dauber A.

Horm Res Paediatr. 2018;89(3):205-210. doi: 10.1159/000487638. Epub 2018 Mar 22.


Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2.

Fujimoto M, Hwa V, Dauber A.

J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):1-8. doi: 10.4274/jcrpe.2017.S001. Epub 2017 Dec 27. Review.


Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.

Lui JC, Barnes KM, Dong L, Yue S, Graber E, Rapaport R, Dauber A, Nilsson O, Baron J.

J Clin Endocrinol Metab. 2018 Apr 1;103(4):1470-1478. doi: 10.1210/jc.2017-01948.


Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS, Backeljauw PF, Rosenfeld RG, Aisenberg J, Dauber A, Hwa V.

J Endocr Soc. 2017 Apr 1;1(4):345-358. doi: 10.1210/js.2016-1119. Epub 2017 Mar 8.


New genetic tools in the diagnosis of growth defects.

Dauber A.

Growth Horm IGF Res. 2018 Feb;38:24-28. doi: 10.1016/j.ghir.2017.11.002. Epub 2017 Nov 13. Review.


Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density.

Cabrera-Salcedo C, Mizuno T, Tyzinski L, Andrew M, Vinks AA, Frystyk J, Wasserman H, Gordon CM, Hwa V, Backeljauw P, Dauber A.

J Clin Endocrinol Metab. 2017 Dec 1;102(12):4568-4577. doi: 10.1210/jc.2017-01411.


IGF-I Deficiency in the Era of Genomics: Lessons Learned.

Dauber A.

Horm Res Paediatr. 2017;88(6):418-420. doi: 10.1159/000481285. Epub 2017 Sep 29. No abstract available.


Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Liao L, Gan HW, Hwa V, Dattani M, Dauber A.

Horm Res Paediatr. 2017;88(5):364-370. doi: 10.1159/000477907. Epub 2017 Jul 4.


Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.

Cabrera-Salcedo C, Shah AS, Andrew M, Tyzinski L, Hwa V, Gutmark-Little I, Backeljauw P, Dauber A.

Clin Endocrinol (Oxf). 2017 Dec;87(6):874-876. doi: 10.1111/cen.13400. Epub 2017 Jul 21. No abstract available.


IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

Cabrera-Salcedo C, Kumar P, Hwa V, Dauber A.

Pediatr Endocrinol Rev. 2017 Mar;14(3):289-297. doi: 10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth. Review.


Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V.

Horm Res Paediatr. 2017;87(6):412-422. doi: 10.1159/000464143. Epub 2017 Apr 10.

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