Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 174

1.

Prevalence of frailty in older adults in outpatient physiotherapy in an urban region in the western part of Germany: a cross-sectional study.

Braun T, Thiel C, Ziller C, Rasche J, Bahns C, Happe L, Retzmann T, Grüneberg C.

BMJ Open. 2019 Jun 21;9(6):e027768. doi: 10.1136/bmjopen-2018-027768.

2.

Beating Yourself: How Do Runners Improve Their Own Records?

Foster C, de Koning JJ, Thiel C, Versteeg B, Boullosa DA, Bok D, Porcari JP.

Int J Sports Physiol Perform. 2019 Jun 12:1-10. doi: 10.1123/ijspp.2019-0261. [Epub ahead of print]

PMID:
31188690
3.

PEDIA: prioritization of exome data by image analysis.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.

Genet Med. 2019 Jun 5. doi: 10.1038/s41436-019-0566-2. [Epub ahead of print]

PMID:
31164752
4.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C.

Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.

PMID:
31067009
5.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.

PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.

6.

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U.

J Hum Genet. 2019 Jul;64(7):609-616. doi: 10.1038/s10038-019-0602-8. Epub 2019 Apr 24.

PMID:
31015584
7.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B.

Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11.

PMID:
30982613
8.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT.

Eur J Hum Genet. 2019 Jul;27(7):1061-1071. doi: 10.1038/s41431-019-0362-0. Epub 2019 Feb 26.

PMID:
30809043
9.

Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy.

Borggraefe I, Tacke M, Gerstl L, Leiz S, Coras R, Blümcke I, Giese A, Ertl-Wagner B, Thiel CT, Noachtar S, Peraud A.

Epileptic Disord. 2019 Feb 1;21(1):122-127. doi: 10.1684/epd.2019.1037.

PMID:
30782583
10.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.

Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Review.

11.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
12.

TRIM28 haploinsufficiency predisposes to Wilms tumor.

Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M.

Int J Cancer. 2019 Aug 15;145(4):941-951. doi: 10.1002/ijc.32167. Epub 2019 Feb 14.

PMID:
30694527
13.

Reliability of mobility measures in older medical patients with cognitive impairment.

Braun T, Thiel C, Schulz RJ, Grüneberg C.

BMC Geriatr. 2019 Jan 23;19(1):20. doi: 10.1186/s12877-019-1036-z.

14.

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B.

Am J Med Genet A. 2019 Jan;179(1):50-56. doi: 10.1002/ajmg.a.60679. Epub 2018 Dec 11.

PMID:
30548383
15.

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C.

Am J Med Genet A. 2018 Dec;176(12):2872-2876. doi: 10.1002/ajmg.a.40640. Epub 2018 Nov 18.

PMID:
30450806
16.

Probing the SERS brightness of individual Au nanoparticles, hollow Au/Ag nanoshells, Au nanostars and Au core/Au satellite particles: single-particle experiments and computer simulations.

Tran V, Thiel C, Svejda JT, Jalali M, Walkenfort B, Erni D, Schlücker S.

Nanoscale. 2018 Nov 29;10(46):21721-21731. doi: 10.1039/c8nr06028b.

PMID:
30431039
17.

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V.

Elife. 2018 Oct 12;7. pii: e38309. doi: 10.7554/eLife.38309.

18.

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.

BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.

19.

Protective Actions of Anserine Under Diabetic Conditions.

Peters V, Calabrese V, Forsberg E, Volk N, Fleming T, Baelde H, Weigand T, Thiel C, Trovato A, Scuto M, Modafferi S, Schmitt CP.

Int J Mol Sci. 2018 Sep 13;19(9). pii: E2751. doi: 10.3390/ijms19092751.

20.

[Physical training as core component of multimodal treatment of older frail people-study protocol of a randomized controlled pilot study].

Thiel C, Braun T, Grüneberg C.

Z Gerontol Geriatr. 2019 Feb;52(1):45-60. doi: 10.1007/s00391-018-1443-3. Epub 2018 Sep 11. German.

PMID:
30206744

Supplemental Content

Loading ...
Support Center