Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 106

  • Quoted phrase not found.
1.

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
2.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

3.

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.

4.

Multi-sensor satellite and in situ monitoring of phytoplankton development in a eutrophic-mesotrophic lake.

Dörnhöfer K, Klinger P, Heege T, Oppelt N.

Sci Total Environ. 2018 Jan 15;612:1200-1214. doi: 10.1016/j.scitotenv.2017.08.219. Epub 2017 Sep 8.

PMID:
28892864
5.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG.

Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25.

PMID:
28882528
6.

Inhibition of SHH pathway mechanisms by arsenic trioxide in pediatric medulloblastomas: a comprehensive literature review.

Klinger PH, Andrade AF, Delsin LE, Queiroz RG, Scrideli CA, Tone LG, Valera ET.

Genet Mol Res. 2017 Feb 16;16(1). doi: 10.4238/gmr16019412. Review.

PMID:
28218785
7.

PEDF Is Associated with the Termination of Chondrocyte Phenotype and Catabolism of Cartilage Tissue.

Klinger P, Lukassen S, Ferrazzi F, Ekici AB, Hotfiel T, Swoboda B, Aigner T, Gelse K.

Biomed Res Int. 2017;2017:7183516. doi: 10.1155/2017/7183516. Epub 2017 Jan 16.

8.

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).

Kramerova I, Ermolova N, Eskin A, Hevener A, Quehenberger O, Armando AM, Haller R, Romain N, Nelson SF, Spencer MJ.

Hum Mol Genet. 2016 Jun 1;25(11):2194-2207. Epub 2016 Mar 22.

9.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.

10.

[Male/female medical students conduct research in the community].

Daeppen JB, Bodenmann P, Burnand B, Gaume J, Genton B, Hofner MC, Spencer B, Widmer D.

Rev Med Suisse. 2015 Aug 26;11(483):1564. French. No abstract available.

PMID:
26502583
11.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.

Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.

12.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT.

Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.

13.

Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla.

Heinicke K, Dimitrov IE, Romain N, Cheshkov S, Ren J, Malloy CR, Haller RG.

PLoS One. 2014 Oct 8;9(10):e108706. doi: 10.1371/journal.pone.0108706. eCollection 2014.

14.

Clinically assessed consequences of workplace physical violence.

De Puy J, Romain-Glassey N, Gut M, Wild P, Mangin P, Danuser B.

Int Arch Occup Environ Health. 2015 Feb;88(2):213-24. doi: 10.1007/s00420-014-0950-9. Epub 2014 Jun 15. Erratum in: Int Arch Occup Environ Health. 2015 Feb;88(2):225. Pascal, Wild [corrected to Wild, Pascal].

15.

The effect of rowing ergometry and resistive exercise on skeletal muscle structure and function during bed rest.

Krainski F, Hastings JL, Heinicke K, Romain N, Pacini EL, Snell PG, Wyrick P, Palmer MD, Haller RG, Levine BD.

J Appl Physiol (1985). 2014 Jun 15;116(12):1569-81. doi: 10.1152/japplphysiol.00803.2013. Epub 2014 May 1.

16.

[Abuse: training evaluated at 10 years: an original approach].

Robellaz F, Minore R, Hofner MC.

Krankenpfl Soins Infirm. 2014;107(2):66-7. French. No abstract available.

PMID:
24640852
17.

The Transient Chondrocyte Phenotype in Human Osteophytic Cartilage: A Role of Pigment Epithelium-Derived Factor?

Klinger P, Beyer C, Ekici AB, Carl HD, Schett G, Swoboda B, Hennig FF, Gelse K.

Cartilage. 2013 Jul;4(3):249-55. doi: 10.1177/1947603513480809.

18.

Wnt inhibitory factor 1 deficiency uncouples cartilage and bone destruction in tumor necrosis factor α-mediated experimental arthritis.

Stock M, Böhm C, Scholtysek C, Englbrecht M, Fürnrohr BG, Klinger P, Gelse K, Gayetskyy S, Engelke K, Billmeier U, Wirtz S, van den Berg W, Schett G.

Arthritis Rheum. 2013 Sep;65(9):2310-22. doi: 10.1002/art.38054.

19.

Tumor fibroblast-derived epiregulin promotes growth of colitis-associated neoplasms through ERK.

Neufert C, Becker C, Türeci Ö, Waldner MJ, Backert I, Floh K, Atreya I, Leppkes M, Jefremow A, Vieth M, Schneider-Stock R, Klinger P, Greten FR, Threadgill DW, Sahin U, Neurath MF.

J Clin Invest. 2013 Apr;123(4):1428-43. doi: 10.1172/JCI63748. Epub 2013 Mar 15.

20.

When nightclub security agents assault clients.

Romain-Glassey N, Gut M, Feiner AS, Cathieni F, Hofner MC, Mangin P.

J Forensic Leg Med. 2012 Aug;19(6):341-4. doi: 10.1016/j.jflm.2012.02.020. Epub 2012 Mar 15.

PMID:
22847052

Supplemental Content

Loading ...
Support Center