Publikationen 2008

Bähring S, Kann M, Neuenfeld Y, Gong M, Chitayat D, Toka HR, Toka O, Plessis G, Maass P, Rauch A, Aydin A, Luft FC: (2008) Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. Hypertension. 2008;51(2): 426-31
Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B: (2008) Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscul Disord. 2008;18(2): 159-66
Apitz C, Schaefer J, Sieverding L, Rauch A, Hofbeck M: (2008) Spontaneous Development and Rupture of Pulmonary Artery Aneurysm: A Rare Complication in an Infant with Peripheral Pulmonary Artery Stenoses Due to Mutation of the Elastin Gene. Pediatr Cardiol. 2008;29(2): 438-441
Hüffmeier U, Böiers U, Lascorz J, Reis A, Burkhardt H: (2008) Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis. Ann Rheum Dis. 2008;67(1): 131-3
Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M: (2008) Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet. 2008;73(1): 62-70
Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L: (2008) LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. Hum Mol Genet. 2008;17(2): 201-14
Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, Reis A: (2008) Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci. 2008;49(1): 270-4
Hollox EJ, Hüffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J: (2008) Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet. 2008;40(1): 23-5
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M: (2008) A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23(2): 323-327
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A: (2008) Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008;319(5864): 816-9
Hüffmeier U, Lascorz J, Böhm B, Lohmann J, Wendler J, Mossner R, Reich K, Burkhardt H, Traupe H, Kurrat W, Reis A: (2008) Variants of genes coding for IL-12 beta ? and for IL-23R are associated with psoriasis vulgaris and psoriatic arthritis in large German study groups Exp Dermatol. 2008;17(3): 247-247
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F: (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant. 2008;23(4): 1291-7
Surmann-Schmitt C, Dietz U, Kireva T, Adam N, Park J, Tagariello A, Onnerfjord P, Heinegård D, Schlotzer-Schrehardt U, Deutzmann R, von der Mark K, Stock M: (2008) Ucma, a Novel Secreted Cartilage-specific Protein with Implications in Osteogenesis. J Biol Chem. 2008;283(11): 7082-93
Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C: (2008) Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008;146A(8): 977-83
Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner CE, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K: (2008) No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. Clin Dysmorphol. 2008;17(3): 181-5
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G: (2008) Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008;18(6): 847-58
Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Hüffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, Warren RB, Young HS, Worthington J, Burden AD, Griffiths CE, Hayday A, Nestle FO, Reis A, Lanchbury J, Barker JN, Trembath RC: (2008) Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet. 2008;17(13): 1938-45
Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lammer R, Weber BH, Kruse FE, Schlotzer-Schrehardt U, Reis A: (2008) Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci. 2008;49(4): 1459-63
Simm D, Degenhardt K, Gerdemann C, Völkl TM, Rauch A, Dörr HG: (2008) [Chronological age of patients with Turner syndrome at diagnosis] Klin Padiatr. 2008;220(1): 16-20
Tagariello A, Luther J, Streiter M, Didt-Koziel L, Wuelling M, Surmann-Schmitt C, Stock M, Adam N, Vortkamp A, Winterpacht A: (2008) Ucma--A novel secreted factor represents a highly specific marker for distal chondrocytes. Matrix Biol. 2008;27(1): 3-11
Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A: (2008) Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab. 2008;94(3): 356-62
Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI: (2008) Variable phenotype of Pierson syndrome Pediatr Nephrol. 2008;23(6): 995-1000
de Vries ACH, Stam RW, Kratz CP, Zenker M, Haas OA, van Wering ER, Zwaan CM, Locatelli F, Zecca M, Hasle H, Stary J, Niemeyer CM, van den Heuvel-Eibrink MM: (2008) BRAF mutations analysis in juvenile myelomonocytic leukemia Ann Hematol. 2008;87 Suppl. (): S16-S16
Schalkwijk L, Hollox EJ, Hüffmeier U, Zeeuwen PL, Palla R, Lascorz J, Olthuis DR, de Kerkhoi PCV, Traupe H, den Heijer M, Reis A, Armour JA: (2008) Psoriasis is associated with increased beta-defensin genomic copy number J Invest Dermatol. 2008;128 Suppl.(): S113-S113
Bauters M, van Hilde E, Friez MJ, Boesplug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Nevelsteen J, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE: (2008) Genomics of MECP2 duplications Cell Oncol. 2008;30(3): 241-242
Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS: (2008) Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A. 2008;146A(14): 1875-9
Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I: (2008) Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet A. 2008;146A(15): 2013-7
Shafeghati Y, Kniepert A, Vakili G, Zenker M: (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A. 2008;146A(4): 529-31
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietli?ski J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I: (2008) Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol. 2008;146(4): 602-611
Cisse B, Caton ML, Lehner M, Maeda T, Scheu S, Locksley R, Holmberg D, Zweier C, den Hollander NS, Kant SG, Holter W, Rauch A, Zhuang Y, Reizis B: (2008) Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell. 2008;135(1): 37-48
Zweier C, Trautmann U, Ekici A, Rauch A: (2008) A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome. Eur J Med Genet. 2008;51(4): 358-61
Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A: (2008) A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Eur J Med Genet. 2008;51(4): 362-7
Brockmann K, Dreha-Kulaczewski S, Dechent P, Bönnemann C, Helms G, Kyllerman M, Brück W, Frahm J, Huehne K, Gärtner J, Rautenstrauss B: (2008) Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. J Neurol. 2008;255(7): 1049-58
Dietrich A, Matejas V, Bitzan M, Hashmi S, Kiraly-Borri C, Lin SP, Mildenberger E, Hoppe B, Palm L, Shiihara T, Steiss JO, Tsai JD, Vester U, Weber S, Wühl E, Zepf K, Zenker M: (2008) Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol. 2008;23(10): 1779-86
Ruf B, Balling G, Freisinger P, Seidel H, Zenker M, Hess J: (2008) Costello-Syndrome: a rare differential diagnosis of Noonan-Syndrome in congenital hypertropic cardiomyopathy Clin Res Cardiol. 2008;97(9): 692-692
Weiss FU, Zenker M, Ekici AB, Simon P, Mayerle J, Lerch MM: (2008) Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany. Am J Gastroenterol. 2008;103(10): 2585-8
Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, Rautenstrauss B: (2008) Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. Eur J Med Genet. 2008;51(5): 426-35
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB: (2008) Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008;45(11): 710-20
Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A: (2008) Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet. 2008;45(11): 738-44
Schlotzer-Schrehardt U, Pasutto F, Sommer P, Hornstra I, Kruse FE, Naumann GO, Reis A, Zenkel M: (2008) Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol. 2008;173(6): 1724-35
Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B: (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 2008;29(9): 1147-53
Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM: (2008) Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. Am J Med Genet A. 2008;146A(23): 3058-61
Göhring I, Blümlein HM, Hoyer J, Ekici AB, Trautmann U, Rauch A: (2008) 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development. Eur J Med Genet. 2008;51(6): 666-71
Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M: (2008) Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J Gastroenterol. 2008;14(44): 6863-6

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