Publikationen 2009

Utsch B, Brun-Heath I, Staatz G, Gravou-Apostolatou C, Karle S, Jacobs U, Ludwig M, Zenker M, Dörr HG, Rascher W, Mornet E, Dötsch J:(2009)Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?Exp Clin Endocrinol Diabetes. 2009;117(1): 28-33
Ringwald J, Berger A, Adler W, Kraus C, Pitto RP:(2009)Genetic polymorphisms in venous thrombosis and pulmonary embolism after total hip arthroplasty: a pilot study.Clin Orthop Relat Res. 2009;467(6): 1507-15
Raaz D, Herrmann M, Ekici AB, Klinghammer L, Lausen B, Voll RE, Leusen JH, van de Winkel JG, Daniel WG, Reis A, Garlichs CD:(2009)FcgammaRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease.Atherosclerosis. 2009;205(2): 512-6
Hüffmeier U, Lascorz J, Becker T, Schurmeyer-Horst F, Magener A, Ekici AB, Endele S, Thiel CT, Thoma-Uszynski S, Mossner R, Reich K, Kurrat W, Wienker TF, Traupe H, Reis A:(2009)Characterization of Psoriasis Susceptibility Locus 6 (PSORS6) in Patients with Early Onset Psoriasis and Evidence for Interaction with PSORS1Exp Dermatol. 2009;18(3): 285-285
Huehne K, Leis S, Muenster T, Wehrfritz A, Winter S, Maihöfner C, Foertsch T, Croner R, Reis A, Winterpacht A, Rautenstrauss B:(2009)High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity.Eur J Pain. 2009;13(10): 1036-42
Hüffmeier U, Lascorz J, Becker T, Schürmeier-Horst F, Magener A, Ekici AB, Endele S, Thiel CT, Thoma-Uszynski S, Mossner R, Reich K, Kurrat W, Wienker TF, Traupe H, Reis A:(2009)Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.J Med Genet. 2009;46(11): 736-44
Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A:(2009)Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.Am J Hum Genet. 2009;85(4): 447-56
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlotzer-Schrehardt U, Reis A:(2009)Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.Invest Ophthalmol Vis Sci. 2009;50(6): 2796-801
Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A:(2009)Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.Am J Med Genet A. 2009;149A(6): 1263-7
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A:(2009)CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.Am J Hum Genet. 2009;85(5): 655-66
Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O:(2009)Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.Am J Med Genet A. 2009;149A(10): 2236-40
Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M:(2009)Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.Am J Med Genet A. 2009;149A(5): 1036-40
Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG:(2009)New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.Ann Hum Genet. 2009;73(Pt 3): 283-91
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Reinthal E, Wissinger B, Weisschuh N:(2009)Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.BMC Med Genet. 2009;10(): 91
Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Hüffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH:(2009)Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.Br J Dermatol. 2009;160(4): 771-81
Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL, Humphreys MK, Dunning AM, Morrison J, Giles GG, Severi G, Baglietto L, English DR, Couch FJ, Olson JE, Wang X, Chang-Claude J, Flesch-Janys D, Abbas S, Salazar R, Mannermaa A, Kataja V, Kosma VM, Lindblom A, Margolin S, Heikkinen T, Kämpjärvi K, Aaltonen K, Nevanlinna H, Bogdanova N, Coinac I, Schürmann P, Dörk T, Bartram CR, Schmutzler RK, Tchatchou S, Burwinkel B, Brauch H, Torres D, Hamann U, Justenhoven C, Ribas G, Arias JI, Benitez J, Bojesen SE, Nordestgaard BG, Flyger HL, Peto J, Fletcher O, Johnson N, Dos Santos Silva I, Fasching PA, Beckmann MW, Strick R, Ekici AB, Broeks A, Schmidt MK, van Leeuwen FE, Van't Veer LJ, Southey MC, Hopper JL, Apicella C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Kristensen V, Grenaker Alnaes G, Hunter DJ, Kraft P, Cox DG, Hankinson SE, Seynaeve C, Vreeswijk MP, Tollenaar RA, Devilee P, Chanock S, Lissowska J, Brinton L, Peplonska B, Czene K, Hall P, Li Y, Liu J, Balasubramanian S, Rafii S, Reed MW, Pooley KA, Conroy D, Baynes C, Kang D, Yoo KY, Noh DY, Ahn SH, Shen CY, Wang HC, Yu JC, Wu PE, Anton-Culver H, Ziogoas A, Egan K, Newcomb P, Titus-Ernstoff L, Trentham Dietz A, Sigurdson AJ, Alexander BH, Bhatti P, Allen-Brady K, Cannon-Albright LA, Wong J, Australian Ovarian Cancer Study Group , Chenevix-Trench G, Spurdle AB, Beesley J, Pharoah PD, Easton DF, Garcia-Closas M, Breast Cancer Association Consortium:(2009)Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.Cancer Epidemiol Biomarkers Prev. 2009;18(5): 1610-6
Graham JM, Krämer N, Bejjani BA, Thiel CT, Carta C, Neri G, Tartaglia M, Zenker M:(2009)Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.Am J Med Genet A. 2009;149A(10): 2122-8
Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC:(2009)The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.Am J Med Genet A. 2009;149A(8): 1860-81
Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A:(2009)Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.Clin Genet. 2009;76(3): 276-81
Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K:(2009)Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Eur J Hum Genet. 2009;17(10): 1207-15
Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A:(2009)A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.Eur J Hum Genet. 2009;17(12): 1592-9
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V:(2009)A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.Eur J Hum Genet. 2009;17(3): 395-400
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V:(2009)Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.Eur J Hum Genet. 2009;17(4): 420-5
Koudova M, Seemanova E, Zenker M:(2009)Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.Eur J Med Genet. 2009;52(5): 337-40
Renner SP, Ekici AB, Maihöfner C, Oppelt P, Thiel FC, Schrauder M, Uenluehan N, Bani MR, Strissel PL, Strick R, Beckmann MW, Fasching PA:(2009)Neurokinin 1 receptor gene polymorphism might be correlated with recurrence rates in endometriosis.Gynecol Endocrinol. 2009;25(11): 726-33
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W:(2009)Genotyping microarray for CSNB-associated genes.Invest Ophthalmol Vis Sci. 2009;50(12): 5919-26
Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho AD, Bartek J, Krämer A:(2009)Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.J Cell Biol. 2009;185(7): 1149-57
Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P:(2009)Mutations in the LMNA gene do not cause axonal CMT in Czech patients.J Hum Genet. 2009;54(6): 365-8
Kinkley S, Staege H, Mohrmann G, Rohaly G, Schaub T, Kremmer E, Winterpacht A, Will H:(2009)SPOC1: a novel PHD-containing protein modulating chromatin structure and mitotic chromosome condensation.J Cell Sci. 2009;122(Pt 16): 2946-56
Hoffmann K, Planitz C, Rüschendorf F, Müller-Myhsok B, Stassen HH, Lucke B, Mattheisen M, Stumvoll M, Bochmann R, Zschornack M, Wienker TF, Nurnberg P, Reis A, Luft FC, Lindner TH:(2009)A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.J Hypertens. 2009;27(5): 983-90
Hüffmeier U, Lascorz J, Böhm B, Lohmann J, Wendler J, Mossner R, Reich K, Traupe H, Kurrat W, Burkhardt H, Reis A:(2009)Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.J Invest Dermatol. 2009;129(2): 355-8
Zenker M, Machuca E, Antignac C:(2009)Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.J Mol Med. 2009;87(9): 849-57
Milne RL, Benitez J, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Bremer M, Hillemanns P, Dörk T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Li Y, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J, kConFab Investigators , AOCS Group , Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Justenhoven C, Ko YD, Haas S, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Fletcher O, Johnson N, Dos Santos Silva I, Peto J, Turnbull C, Hines S, Renwick A, Rahman N, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, Garcia-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Shen CY, Wang HC, Yu JC, Chen ST, Bermisheva M, Nikolaeva T, Khusnutdinova E, Humphreys MK, Morrison J, Platte R, Easton DF, Breast Cancer Association Consortium:(2009)Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.J Natl Cancer Inst. 2009;101(14): 1012-8
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubi?ski J, Lurie G, McGuire V, McLaughlin J, Medrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A, Australian Cancer (Ovarian) Study , Australian Ovarian Cancer Study Group , Ovarian Cancer Association Consortium , Houlston R, Tomlinson I, Whittemore AS, Rossing MA, Ponder BA, Pearce CL, Ness RB, Menon U, Kjaer SK, Gronwald J, Garcia-Closas M, Fasching PA, Easton DF, Chenevix-Trench G, Berchuck A, Pharoah PD, Gayther SA:(2009)A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.Nat Genet. 2009;41(9): 996-1000
Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M:(2009)Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.Nat Genet. 2009;41(9): 1022-6
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG:(2009)Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.J Med Genet. 2009;46(9): 598-606
Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS:(2009)Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?Am J Med Genet A. 2009;149A(11): 2457-63
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH:(2009)SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.Pediatr Res. 2009;65(5): 564-8
Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A, Grid D, Hamadouche T, Rautenstrauss B, Vallat JM:(2009)Phenotypic variability in giant axonal neuropathy.Neuromuscul Disord. 2009;19(4): 270-4
Cupisti S, Fasching PA, Ekici AB, Strissel PL, Loehberg CR, Strick R, Engel J, Dittrich R, Beckmann MW, Goecke TW:(2009)Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.Arch Gynecol Obstet. 2009;280(3): 395-400
Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G:(2009)Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Am J Hum Genet. 2009;85(6): 809-22
Reis A, Rauch A:(2009)Chromosomal causes of mental retardationMed. Genet.. 2009;21(2): 237-245
Uebe S, Pasutto F, Krumbiegel M, Schanze D, Ekici A, Reis A:(2009)GPGraphics: A Universal Graphical Backend for SNP Microarray AnalysisAnn Hum Genet. 2009;73(): 668-668
Seeman P, Siskova D, Stegurova K, Perina V, Kantorova E, Smetana P, Huehne K, Rautenstrauss B:(2009)HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE LOM (CMT4D) IN TWO CZECH GYPSY FAMILIESJ Peripher Nerv Syst. 2009;14 Suppl. (): 134-135
Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P:(2009)LMNA IS NOT A RELEVANT GENE FOR DIAGNOSTIC TESTING IN AXONAL CHARCOT-MARIE-TOOTHJ Peripher Nerv Syst. 2009;14 Suppl. (): 85-86
Mayerle J, Karanam NK, Bauhuber S, Weiss FU, Steils L, Volker U, Zenker M, Lerch MM:(2009)Development of a Protein Based Assay to Detect Subclinical Johanson-Blizzard-Syndrome in Patients With Unexplained Exocrine InsufficiencyPancreas. 2009;38(8): 1027-1027
Kurzai M, Zenker M, Amann K, Köhler H:(2009)A new mutation in ABDHS gene in a youth with Dorfman-chanarin-syndromeKlin Padiatr. 2009;221(2): 80 -
Franke DU, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JHH, Zivicnjak M:(2009)Oligosymptomatic forms of Schimke immuno-osseous dysplasia (SIOD) may be overlooked in children with steroid-resistant nephrotic syndrome. Who should be screened for SMARCAL1-mutations?Pediatr Nephrol. 2009;24(4): 902-902
Arbeiter AK, Buscher R, Zenker M, Nagel M, Hildebrandt F, Dworniczak B, Kuwertz-Bröking E, Wingen A, Hoyer PF, Konrad M, Weber S:(2009)THEPediatr Nephrol. 2009;24(9): 1786-1787
Arbeiter AK, Tauber A, Schumacher V, Zenker M, Hildebrandt F, Dworniczak B, Kuwertz-Bröking E, Buscher R, Wingen AM, Hoyer PF, Konrad M, Weber S:(2009)The 'CNS/SRNS-OUTCOME-STUDY': A bicenter, retrospective analysis of genetics in nephrotic syndromePediatr Nephrol. 2009;24(4): 904-904
Reis A, Schulze B, Stuhrmann M, Liehr T, Fritz B, Glaser D, Deutsch Gesell Humangen; Berufsverband Deutsch Humangenet:(2009)Guidelines to "prenatal fast test"Med. Genet.. 2009;21(3): 393-396
Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Zu Horste GM, Nave KA, Reis A, Rautenstrauss B:(2009)Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.Neurogenetics. 2009;10(4): 275-87

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