Schnabel D - Search Results

1

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

Grüters-Kieslich A, Reyes M, Sharma A, Demirci C, DeClue TJ, Lankes E, Tiosano D, Schnabel D, Jüppner H. Grüters-Kieslich A, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2670-2677. doi: 10.1210/jc.2017-00395. J Clin Endocrinol Metab. 2017. PMID: 28453643 Free PMC article.

2

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A. Biebermann H, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250. J Clin Endocrinol Metab. 2019. PMID: 30312418 Free PMC article.

3

A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B).

Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H. Reyes M, et al. Among authors: schnabel d. J Bone Miner Res. 2021 Mar;36(3):546-552. doi: 10.1002/jbmr.4209. Epub 2020 Nov 28. J Bone Miner Res. 2021. PMID: 33180333 Free PMC article.

4

Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism.

Aleksander PE, Brückner-Spieler M, Stoehr AM, Lankes E, Kühnen P, Schnabel D, Ernert A, Stäblein W, Craig ME, Blankenstein O, Grüters A, Krude H. Aleksander PE, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2018 Apr 1;103(4):1459-1469. doi: 10.1210/jc.2017-01937. J Clin Endocrinol Metab. 2018. PMID: 29325045

5

Severe Acquired Primary Hypothyroidism in Children and its Influence on Growth: A Retrospective Analysis of 43 Cases.

Becker M, Blankenstein O, Lankes E, Schnabel D, Krude H. Becker M, et al. Among authors: schnabel d. Exp Clin Endocrinol Diabetes. 2022 Apr;130(4):217-222. doi: 10.1055/a-1538-8241. Epub 2021 Oct 4. Exp Clin Endocrinol Diabetes. 2022. PMID: 34607373

6

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

Glaudo M, Letz S, Quinkler M, Bogner U, Elbelt U, Strasburger CJ, Schnabel D, Lankes E, Scheel S, Feldkamp J, Haag C, Schulze E, Frank-Raue K, Raue F, Mayr B, Schöfl C. Glaudo M, et al. Among authors: schnabel d. Eur J Endocrinol. 2016 Nov;175(5):421-31. doi: 10.1530/EJE-16-0223. Eur J Endocrinol. 2016. PMID: 27666534

7

Unimpaired postnatal respiratory adaptation in a preterm human infant with a homozygous ENaC-α unit loss-of-function mutation.

Huppmann S, Lankes E, Schnabel D, Bührer C. Huppmann S, et al. Among authors: schnabel d. J Perinatol. 2011 Dec;31(12):802-3. doi: 10.1038/jp.2011.46. J Perinatol. 2011. PMID: 22124517

8

Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1.

Meisel C, Akbil B, Meyer T, Lankes E, Corman VM, Staudacher O, Unterwalder N, Kölsch U, Drosten C, Mall MA, Kallinich T, Schnabel D, Goffinet C, von Bernuth H. Meisel C, et al. Among authors: schnabel d. J Clin Invest. 2021 Jul 15;131(14):e150867. doi: 10.1172/JCI150867. J Clin Invest. 2021. PMID: 34061776 Free PMC article.

9

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A. Krude H, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2003 Oct;88(10):4633-40. doi: 10.1210/jc.2003-030502. J Clin Endocrinol Metab. 2003. PMID: 14557433

10

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.

Raue F, Pichl J, Dörr HG, Schnabel D, Heidemann P, Hammersen G, Jaursch-Hancke C, Santen R, Schöfl C, Wabitsch M, Haag C, Schulze E, Frank-Raue K. Raue F, et al. Among authors: schnabel d. Clin Endocrinol (Oxf). 2011 Dec;75(6):760-5. doi: 10.1111/j.1365-2265.2011.04142.x. Clin Endocrinol (Oxf). 2011. PMID: 21645025

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