Zentrum für Humangenetik und Laboratoriumsmedizin, Dr. Klein, Dr. Rost und Kollegen

Alberer M, Hoefele J, Bergmann C, Hartrampf S, Hilberath J, Pawlita I, Albert MH, Benz MR, Weber LT, Schmid I.
Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and previously undetected autosomal dominant polycystic kidney disease (ADPKD).
J Pediatr Hematol Oncol. 32:314 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20921908

Ashraf S, Hoskins BE, Chaib H, Hoefele J, Pasch A, Saisawat P, Trefz F, Hacker HW, Nuernberg G, Nuernberg P, Otto EA, Hildebrandt F.
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
Nephrol Dial Transplant. 25(5):1496 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20007758

Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G.
Cardiovascular manifestations in men and women carrying a FBN1 mutation.
Eur Heart J. 31(18):2223 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20709720

Hoefele J, Bertrand AM, Stehr M, Leblanc T, Tchernia G, Simansour M, Mignot B, Alberer M, Schwarz HP, Da Costa L. Disorders of Sex Development and Diamond-Blackfan Anemia: is there an association?
Ped Nephrol. 25:1255 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20358230

Hoefele J, Lange-Sperandio B, Ruessmann D, Glöckner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT
heterozygous COL4A3 mutation in a family with late-onset ESRD.
Ped Nephrol. 25:1539 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20177710

Kotschote S, Wagner C, Marschall C, Mayer K, Hirv K, Kerick M, Timmermann B, Klein HG.
Translation of next generation sequencing (NGS) into molekular diagnostics.
J Lab Med. 34(6):311 (2010)
http://www.degruyter.com/view/j/labm.2010.34.issue-6/jlm.2010.054/jlm.2010.054.xml

Mayer K.
Zukunftsweisende Therapiemöglichkeiten in: Leben mit TSC - Eine Krankheit mit vielen Gesichtern.
Tuberöse Sklerose Deutschland e. V. (Herausgeber) (2010).

Mayer K, Kennerknecht I, Steinmann B.
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII.
Eur J Hum Genet. 18(9) (2010)
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987428/

Mayer K, Rott H-D.
Genetische Labordiagnostik bei Tuberöse Sklerose Komplex (TSC).
Tuberöse Sklerose Deutschland e.V.
(Herausgeber) (2010)
http://www.tsdev.org/deutsch/tsc-infomaterial/tsc-informationsblaetter/91,167,92001,verlinkung.html

Neubauer H, Kaiser A, Busse B, Mügge A.
Identification, evaluation and treatment of prasugrel low-response after coronary stent implantation--a preliminary study.
Thromb Res. 126(5):389 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20587364

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Am J Med Genet A.
152A(10):2543 (2010)
http://www.ncbi.nlm.nih.gov/pubmed/20830804

Wiemer-Kruel A, Mayer K, Staehler M, Linsenmaier U, Fahrbach J, Weber L, Fischereder M.
Tuberöse Hirnsklerose mit gleichzeitiger Neurofibromatose Typ 1.
Zeitschrift für Epileptologie 23(1):6 (2010)
http://link.springer.com/content/pdf/10.1007%2Fs10309-009-0094-1.pdf#page-1

Würfel W, Santjohanser C, Hirv K, Bühl M, Osama O, Laubert I, von Hertwig I, Fiedler K, Krüsmann J, Krüsmann G.
High pregnancy rates with administration of granulocyte colony-stimulating factor in ART-patients with repetitive implantation failure and lacking killer-cell immunglobulin-like receptors.
Hum Reprod. 25(8):2151 (2010)
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907225/