Tillmann V - Search Results

1

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG. Farmer A, et al. Among authors: tillmann v. BMC Pediatr. 2013 Aug 27;13:130. doi: 10.1186/1471-2431-13-130. BMC Pediatr. 2013. PMID: 23981649 Free PMC article.

2

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: tillmann v. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.

3

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.

4

Growth in Children with HLA-Conferred Susceptibility to Type 1 Diabetes.

Saare L, Peet A, Tillmann V. Saare L, et al. Among authors: tillmann v. Endocrinol Metab (Seoul). 2022 Feb;37(1):175-179. doi: 10.3803/EnM.2021.1262. Epub 2022 Feb 28. Endocrinol Metab (Seoul). 2022. PMID: 35255609 Free PMC article.

5

Educational and knowledge gaps within the European reference network on rare endocrine conditions.

Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, Hiort O, Pereira AM. Iotova V, et al. Among authors: tillmann v. Endocr Connect. 2021 Jan;10(1):37-44. doi: 10.1530/EC-20-0480. Endocr Connect. 2021. PMID: 33289690 Free PMC article.

6

Access to patient oriented information-a baseline Endo-ERN survey among patients with rare endocrine disorders.

Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, Tillmann V, Pereira AM, Hiort O. Iotova V, et al. Among authors: tillmann v. Endocrine. 2021 Mar;71(3):542-548. doi: 10.1007/s12020-021-02654-9. Epub 2021 Feb 18. Endocrine. 2021. PMID: 33599944 Free PMC article.

7

Increasing incidence of childhood-onset type 1 diabetes mellitus among Estonian children in 1999-2006. Time trend analysis 1983-2006.

Teeäär T, Liivak N, Heilman K, Kool P, Sor R, Paal M, Einberg U, Tillmann V. Teeäär T, et al. Among authors: tillmann v. Pediatr Diabetes. 2010 Mar;11(2):107-10. doi: 10.1111/j.1399-5448.2009.00535.x. Epub 2009 Jun 3. Pediatr Diabetes. 2010. PMID: 19496966

8

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

Vaaralahti K, Tommiska J, Tillmann V, Liivak N, Känsäkoski J, Laitinen EM, Raivio T. Vaaralahti K, et al. Among authors: tillmann v. Pediatr Res. 2014 Jul;76(1):115-6. doi: 10.1038/pr.2014.60. Epub 2014 Apr 25. Pediatr Res. 2014. PMID: 24769923 No abstract available.

9

Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.

Noormets K, Kõks S, Muldmaa M, Mauring L, Vasar E, Tillmann V. Noormets K, et al. Among authors: tillmann v. Exp Clin Endocrinol Diabetes. 2011 May;119(5):271-5. doi: 10.1055/s-0030-1265163. Epub 2010 Oct 28. Exp Clin Endocrinol Diabetes. 2011. PMID: 21031341

10

MODY2 caused by a novel mutation of GCK gene.

Pulst K, Arbo T, Kahre T, Peet A, Tillmann V. Pulst K, et al. Among authors: tillmann v. J Pediatr Endocrinol Metab. 2012;25(7-8):801-3. doi: 10.1515/jpem-2012-0137. J Pediatr Endocrinol Metab. 2012. PMID: 23155715

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