Publikationen des Instituts für Humangenetik
2007
Kurnik K, Kreuz W, Horneff S, Düring Ch, Schobess R, Bidlingmaier Ch, Escuriola Ettingshausen C, Krümpel A, Bogdanova N, Nowak-Göttl U: Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia. A Children – results of a multicenter study
Haematologica; 92:982-985(2007)
Markoff A, Bogdanova N, Knop M, Rüffer C, Kenis H, Lux P, Reutelingsperger Ch, Todorov V, Dworniczak B, Horst J, Gerke V: Annexin A5 Interacts with Polycystin-1 and Interferes with the Polycystin-1 Stimulated Recruitment of E-cadherin into Adherens Junctions
Journal of Molecular Biology; 369:954-966 (2007)
Members of the ADPKD Gene Variant Consortium include the following: Harris P.C, Rosetti S, Peters D, Breuning M, Petri Henske E, Koizum A, Inoue S, Shimitzu Y, Thongnoppakhun W, Yenchitsomanus P-t, Deltas C, Sandford R, Torra R, Turco A.E, Jeffery St, Fontes M, Somlo St, Furu L.M, Smulder I.M, Mercier B, Ferec C, Burtey St, Pei Y, Kalaydijieva L, Bogdanova N, McCluskey M, Geon L.J, Wouters C.H, Reiterova J, Stekrova J, San Millan J.L, Aguiari G, Del Senno L: Analysis of published PKD1 gene sequence variants
Nature Genetics; 39 (Correspondence), (2007)
Todorova A, Georggieva B, Tourney I, Todorov T, Bogdanova N, Mitev V, Mueller C.R, Kremensky I, Horst J: A large deletion and novel point mutation in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients
Neurogenetics; 8:225-229 (2007)
Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J: Spectrum of Molecular Defects and Mutation Detection Rate in Patients With Mild and Moderate Hemophilia A
Human Mutation; 28:54-60 (2007)
Bogdanova N, Horst J, Chlystun M, Croucher P.J.P, Nebel A, Bohring A, Todorova A, Schreiber St, Gerke V, Krawaczak M, Markoff A: A common haplotype of the annexin A5 (ANXA5) gene promotor is associated with recurrent pregnancy loss Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J: Spectrum of Molecular Defects and Mutation Detection Rate in Patients With Mild and Moderate Hemophilia A
Human Mutation; 28:54-60 (2007)
Frank V, Ortiz Brüchle N, Mager S, Frints S.G.M, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch Ch, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C: Aberrant Splicing Is a Common Mutational Mechanism in MKS1, a Key Player in Meckel-Gruber Syndrome
Human Mutation; Mutation in Brief #967 online (2007)
Stypmann J, Engelen MA, Orwat St, Bilbilis K, Rothenburger M, Eckardt L, Haverkamp W, Horst J, Dworniczak B, Pennekamp P: Cardiovascular characterization of Pkd2+/LacZ mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD)
International Journal of Cardiology; 2:158-166 (2007
Grueter M, Grueter T, Bell V, Horst J, Laskowski W, Sperling K, Halligan PW, Ellis HD, Kennerknecht I: Hereditary prosopagnosia: the first case series.
Cortex; 43:734-749 (2007)
Dworniczak B, Skryabin B, Tchinda J, Heuck S, Seesing FJ, Metzger D, Chambon P, Horst J, Pennekamp P: Inducible Cre/loxP Recombination in the Mouse Proximal Tubule
Nephron Experimental Nephrology; 106:e11-e20 online (2007)
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K: Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonoczphaly) Syndrome
American Journal of Human Genetics; 81:835-841 (2007)
Wieacker P: Genetische Ursachen der Infertilität und des Hypognoadismus des Mannes
Fortschritt und Fortbildung in der Medizin, Band 31:65-71, Buchbeitrag (2007)
Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Clinical Genetics, online (2007)
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oel-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schwierer G, Topalogla H, Aigner L, Lochmüller H, Winkler J: Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
Neurogenetics, 72:506-516 (2007)
Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P: Dissecting the molecular mechanisms in craniofrontonalsal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
European Journal of Human Genetics, 1-8 (2007)
Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P: The Heterozygous LMNA Mutatin p.R471G Causes a Variable Phenotype With Features of Two Types of Familial Partial Lipodystrophy
American Journal of Medical Genetics; 143A:2810-2814 (2007)
Röpke A, Kalinski T, Kluba U, von Falkenhausen U, Wieacker PF, Röpke M:PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2)
Cytogenetic and Genome Research; 119:33-38 (2007)
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H,Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J: Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Neurology; 69:442-447 (2007)
Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Muschke P: Male infertility as a component of Carney complex
Andrologia; 39:196-197 (2007)
Couch FJ, Sinilnikova O, Vierkant RA, Pankratz VS, Fredericksen ZS, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin
A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison PJ, Porteous ME,Jakubowska A, Lubinski J, Gronwald J,
Spurdle AB, kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchoff T, Andrulis IL, Ilyushik E, Glendon G, Devilee , Vreeswijk MP, Vasen HF, Borg A, Backenhorn K, Struewing JP, Greene MH, Neuhausen SL, Rebbeck TR, Nathason K, Domchek S, Wagner T, Grber JE, Szabo C, Zikan M, Foretova L,Olson JE, Sellers TA, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann Z, Rashid MU, Torres D, Simard J, Durocher F, Guenard F, Lynch HT, Isaacs C, Weitzel J, Olopade OI, Narod S, Daly MB, Godwin AK, Tomlinson G, Easton DF, Chenevix-Trench G, Antoniu AC, Consortium of Investigators of Modifiers of BRCA ½:AURKA F311 polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA ½ study.
Cancer Epidemiol Biomarkers; 16:1416-21 (2007)
Antonion AC, Sinilnikova OM,Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L. Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Genetic Modifiers of Cancer Risk in BRCA ½ Mutation Carries Study (GEMO), Rebbek TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdl AB, Chen X, Waddell N, Cloonan N, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchoff T, Offit K, Friedmann E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G, Consortium of Investigation of Modifiers of BRCA ½ (CIMBA): RAD51 153G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
American Journal of Human Genetics; 81:1186-200 (2007)
Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients wieth craniofrontonasal syndrome.
Clinical Genetics; 72:506-516 (2007)
2008
Kennerknecht I, Pluempe N, Welling B: Congenital prosopagnosia – a common hereditary cognitive dysfunction in humans
Bioscience; 1:3150-3158 (2008)
Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshhan K, Wieacker P: Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
Prenatal Diagnosis; 28:42-45 (2008)
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooly KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Simard J,Beesley J, Chen X, the Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Oczelik H, OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufmann B, Milgrom R, Friedman E, The Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benitez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM, The DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F, EMBRACE, Godwin AK; Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D, GEMO, Chenevix-Trench G, Easton DF, on behalf of CIMBA: Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
American Journal of Human Genetics; online (2008)
Agaimy A, Pelz AF, Wieacker P, Roessner A, Wünsch PH, Schneider-Stock R: Gastrointestinal stromal tumors of the vermiform appendix: clincopathologic, immunohistochemical, and molecular study of 2 cases with literature review
Human Pathology, 39(8):1252-7. (2008)
Ledig S, Röpke A, Haeuslr G, Hinney B, Wieacker P: BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Am J Obstet Gynecol, 198:84.el-5, (2008)
Wieland I, Wieacker P, Prager B: Gene symbol: EFNB1. Disease: Craniofrontal syndrome.
Human Genetics, 123:105 , (2008)
Wieland I, Bohring A, Wieacker P: Gene symbol: EFNB1. Disease: Craniofrontal syndrome.
Human Genetics, 123:105 , (2008)
Bogdanova N, Markoff A: Genetic Predispositions to Thrombophilia Associated with Recurrent Pregnancy Loss.
Journal of Reproductiove Medicine and Endocrinology; 5:101-5, (2008)
Burtey St, Riera M, Ribe É, Pennekamp P, Rance R, Luciani J, Dworniczak B, Mattei MG, Fontés M: Centrosome overduplication and mitotic instability in PKD2 transgenic lines.
Cell Biology International, 32:1193-8 (2008)
Kirsch St, Pasantes J, Wolf A, Bogdanova N, Münch N, Pennekamp P, Krawczak M, Dworniczak B, Schempp W: Chromosomal evolution of the PKD1 gene family in primates.
BMC Evolutinary Biology, 8:263 (2008)
Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry, Wieacker P, P:Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 an the cellular mosaic
European Journal of Human Genetics; 16:184-191 (2008)
Burtey St, Riera M, Ribe E, Pennekamp P, Passage E, Rance R, Dworniczak B, Fontés M: Overexpression of PKD2 in the mouse is associated with renal tobulopathy
Nephrol Dial Transplant; 23: 1157-65 (2008)
Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC: Five Novel Mutations in Steroidogenic Factor 1 (SF1, NR5A1) in 46,XY Patients With Severe Underandrogenization But Without Adrenal Insufficiency
Human Mutation, 29:59-64 (2008)
Bissé E, Zorn N, Preisler-Adams S, Epting Th, Sommer O, Schaeffer Ch, van Dorsselaer A, Horst J, Wieland H: Haemoglbin Hokusetsu [β52 (D3)] Asp→Gly in German families associated with inclusion body
Ann Hematol, 87:463-466 (2008)
Osorio A, Pollán M, Pita G, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Preisler-Adams S, Niederacher D, Hofmann W, Gadzicki D, Jakubowska A, Hamann U, Lubinski J, Toloczko-Grabarek A, Cybulski C, Debniak T, Llort G, Yannoukakos D, Díez O, Peissel B, Peterlongo P, Radice P, Heikkinen T, Nevanlinna H, Mai PL, Loud JT, McGuffog L, Antoniou AC and Benitez J on behalf of CIMBA: An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.
British Journal of Cancer, 99: 974–977 (2008)
Bissé E, Schaeffer C, Hovasse A, Preisler-Adams S, Epting T, Baumstark M, Van Dorsselaer A, Horst J, Wieland H (2008): Haemoglobin Noah Mehmet Oeztuerk (α2δ2143(H21)His→Tyr: A novel δ-chain variant in the 2,3-DPG binding site
Journal of Chromatography B, 871:55-59 (2008)
Kennerknecht I, Ho NY, Wong VCN: Prevalence of Hereditary Prosopagnsia (HPA) in Hong Kong Chinese Population
American Journal of Medical Genetics Part A, 146:2863-2870 (2008)
Kennknecht I, Pluepme N, Welling B: Congenital prosopagnosia – a common hereditary cognitive dysfunction in humans
Frontiers in Bioscience; 13:3150-3158 (2008)
Romaker D, Puetz M, Tescher S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckardt K.-U., Waldz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys
Journal of the American Society of Nephrology; (2008)
Tüttelmann F, Gromoll J, Kliesch S: Genetik der männlichen Infertilität
Der Urologe; 47:1561-1567 (2008)
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos St: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Nature Genetics; 40:1410-1412 (2008)
Schulz S, Vollech M, Muschke P, Wieland I, Wieacker P: Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 by a paternal balanced insertion (5;7).
The Application of Clinical Genetics; 1:19-22 (2008)
Traykova-Brauch M, Schönig K, Greiner O, Miloud T, Jauch A, Bode M, Felsher DW, Glick AB, Kwiatkowski DJ, Bujard H, Horst J, von Knebel Doeberitz M, Niggli, FK, Kriz W, Gröne HJ, Koesters R: An efficient and versatile system for acute and chronic modulation of renal tubular function in trensgenic mice.
Nature Medicine; 14:979-84 (2008)
2009
Leyle R, Béna F, Gagos S, Gehring C, Lopez G, Schninzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre, Pelet A, Lyonnet St, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin J, Florentin-Arar L, Kitsiou S, Yahya-Graison E, Costantine M, Sine P.-M, Delabar JM, Antonarakis ST.E: Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
European Journal of Human Genetics; 17:454-466 (2009)
Jenkins ZA, von Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Garcia-Miñaur, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RCM, Donnai D, Mansour S, Cormier-Daire V, Robertson StP: Germline mutations in WTX cause a sclerosing skeletal dysplasia but not predispose to tumorigenesis.
Nature Genetics; 1:95-100 (2009)
Bisping G, Wenning D, Kropff M, Gustavus D, Müller-Tidow C, Stelljes M, Munzert G, Hilberg F, Roth GJ, Stefanic M, Volpert S, Mesters RM, Berdel WE, Kienast J: Bortezomib, Dexamethasone, and Fibroblast Growth Factor Receptor 3-Specific Tyrosine Kinase Inhibitor in t(4;14) Myeloma.
Clinical Cancer Research; 15:520-531 (2009)
Romaker D, Puetz M, Teschner S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckardt KU, Walz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys.
Journal of the American Society of Nephrology, 20:48-46 (2009)
Yeung CH, Tüttelmann F, Bergmann M, Nordhoff V, Vorona E, Cooper TG: Coiled sperm from infertile patients: characteristics, associated factors and biological implication.
Human Reproduction; 24:1288-95 (2009)
Wieacker P: Genetic Aspects of Premature Ovarian Failure.
Journal of Reproductive Medicine and Endocrinology; 6:17-18 (2009)
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoelzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheurer V: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
European Journal of Human Genetics; 17:420-425 (2009)
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stasthinko E, Potocki L, Van Allen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstadt PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Polstra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M: Clinical Spectrum of SIX3-Associated Mutations in Holoprosencephaly: Correlation between Genotype, Phenotype, and Function.
Journal of Medical Genetics; 46:389-398 (2009)
Tuettelmann F, Simoni M: Current Recommendations for Genetic Testing in Male Infertility.
European Urological Review; Touch Briefings 88-92 (2009)
Weiss FU, Simon P, Bogdanova N, Maullem S, Lerch MM: Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers.
GUT; 58:733-734 (2009)
Markoff A, Gerke V, Bogdanova N: Combined homology modelling and evolutionary significance evalutation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function.
Haemophilia; 15:932-941 (2009)
Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier Ch, Leinung St, Bohring A, Mitulla B, Peter U, Froster U: New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas.
Annals of Human Genetics; 73:283-291 (2009)
Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U, The DSD Network Working Group: Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality.
BMC Public Health, 21;9:110 (2009)
Bohring A, Stamm Th, Spaich Ch, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A: WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes.
American Journal of Human Genetics; 85:97-105 (2009)
Kalinski T, Röpke A, Saadettin S, Kouznetsova I, Röpke M, Roessner A: Down-regulation of ephrin-A5, a gene of normal cartilage, in chondrosarcoma
Human Pathology, 40:1679-85 (2009)
Poplinski A, Wieacker P, Kliesch S, Gromoll J: Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX maleness from Klinefelter syndrome
European Journal of Endocrinology, online (2009)
European Journal of Endocrinology, 162:169-175(2010)
Simoni M, Wieacker P: Zytogenetische und molekulargenetische Untersuchungen.
Andrologie, 3. Auflage:126-130, Buchbeitrag (2009)
Behre H.M., Nieschlag E, Partsch C.J., Wieacker P, Simoni M: Störungen im Bereich des Hypothalamus und der Hypophyse. In: Andrologie, 3. Auflage, Herausgeber: Springer Verlag, 177-198, Buchbeitrag (2009)
Nieschlag E, Behre H.M., Wieacker P, Meschede D, Kamischke A, Kliesch S: Störungen im Bereich des Testes.
Andrologie, 3. Auflage:202-244, Buchbeitrag (2009)
Behre H.M., Nieschlag E, Weidner W, Wieacker P: Störungen im Bereich der ableitenden Samenwege und akzessorischen Geschlechtsdrüsen.
Andrologie, 3. Auflage:268-282, Buchbeitrag (2009)
Wieacker P, Behre H.M., Nieschlag E: Störungen im Bereich von Androgenzielorgangen.
Andrologie, 3. Auflage:326-338, Buchbeitrag (2009)
Poplinski A, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J: Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1
International Journal of Andrology; online (Okt. 2009)
Tüttelmann F, Křenková, Römer S, Nestorovic AR, Ljujic M, Štambergová A, Macek M, Macek Sr. M, Nieschlag E, Gromoll J, Simoni M: A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts
International Journal of Andrology; online (Okt. 2009)
Yeung CH, Callies C, Tüttelmann F, Kliesch S, Cooper TG: Aquaporins in the human testis and spermatozoa – identification, involvement in sperm volume regulation and clinical relevance
International Journal of Andrology; online (Okt. 2009)
Schüring AN, Lutz F, Tüttelmann F, Gromoll J, Kiesel L, Götte M: Role of syndecan-3 polymorphisms in obesity and female hyperandrogenism.
Journal of Molecular Medicine; online (Okt. 2009)
Romaker D, Puetz M, Teschner S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckhardt KU, Walz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys.
Journal of the American Society of Nephrology; 20:48-46 (2009)
Tüttelmann F, Nieschlag E: Classification of Andrological Disorders.
Andrology, 3rd Completely Revised and Updated Edition:87-92, Buchbeitrag (2009)
Simoni M, Wieacker P: Cytogenetic and Molecular Genetic Investigations.
Andrology, 3rd Completely Revised and Updated Edition: 119-127, Buchbeitrag (2009)
Behre HM, Nieschlag, Partsch CJ, Wieacker P, Simoni M: Diseases of the Hypothalamus and the Pituitary Gland.
Andrology, 3rd Completely Revised and Updated Edition: 170-192, Buchbeitrag (2009)Nieschlag E, Behre HM, Wieacker P, Meschede D, Kamsichke A, Kliesch S: Disorders at the Testicular Level.
Andrology, 3rd Completely Revised and Updated Edition: 194-238, Buchbeitrag (2009)
Behre HM, Nieschlag E, Weidner W, Wieacker P: Diseases of the Seminal Ducts.
Andrology, 3rd Completely Revised and Updated Edition: 264-278, Buchbeitrag (2009)
Wieacker P, Behre HM, Nieschlag E: Disorders of Androgen Target Organs.
Andrology, 3rd Completely Revised and Updated Edition: 323-337, Buchbeitrag (2009)
Graeser M, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster U, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler R: Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Journal of Clinical Oncology; 27:5887-5892 (2009)
Graeser M, Bosse K, Brosig M, Engel C, Schmutzler R on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer: Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer.
Virchows Archiv; 454:519-524 (2009)
2010
Bogdanova N, Siebers U, Kelsch R, Markoff A, Röpke A, Exeler R, Tsokas J, Wieacker P: Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
Human Reproduction; 25:1339-1343 (2010)
Mitter D, Delle Chiaie B, Lüdecke H.J., Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Röpke A, Ramos-Arroyo M.A, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D: Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1.
American Journal of medical genetics; 152A:1213-1221 (2010)
Abdul-Ghafar A, Bogdanova N, Lim LC, Zhao Y, Markoff A, Tien L: Ten novel Factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore.
Haemophilia; 16:545-566 (2010)
Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P: Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
Sexual Development; 4:143-149 (2010)
Köhnemann St, Pennekamp P, Schmit PF, Pfeiffer H: qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework.
International Journal of Legal Medicine; 124:337-342 (2010)
Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I: The impact of CFNS-causing EFNB1 Mutations on ephrin-B1 function
BMC Medical Genetics; online (Juni 2010)
Vujic M, Heyer Ch.M., Ars E, Hopp K, Markoff A, Örndal Ch, Rudenherd B, Nasr S.H., Torres V.E, Torra R, Bogdanova N, Harris P.C.: Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifesations of ARPKD.
Journal of the American Society of Nephrology; 21:1097-1102 (2010)
Ledig S, Röpke A, Wieacker P: Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis.
Sexual Development; 4:225-232 (2010)
Allanson J.E, Bohring A, Dorr H.G, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz C.P, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M: The Face of Noonan Syndrom: Does Phenotype Predict Genotype
Medical Genetics; 152:1960-1966 (2010)
Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P: Array-CGH analysis in patients with syndromic an non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
Human Reproduction; 25:2637-2646 (2010)
Jürgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U and the DSD Network Working Group (Listed in the Acknowledgements): Psychosexual Development in Children with Disorder of Sex Development (DSD) – Results from the German Clinical Evaluation Study.
Journal of Pediatric Endocrinology & Metabolism; 23:565-578 (2010)
Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K: New Technolgies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD).
Sexual Development; 4:213-224 (2010)
Stollhoff R, Jost J, Elze T, Kennerknecht I: The Early Time Course of Compensatory Face Processing in Congenital Prosopagnosia.
PLoS one; online (Juli 2010)
Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser St, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B: Novel CHD7 mutation contributing to the mutation spectrum in patients with CHARGE syndrome.
European Journal of Medical Genetics; 53:280-285 (210)
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber St, Konrad M: Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome.
Clinical Journal of the American Society of Nephrology; 5:2075-84 (2010)
Bogdanova N, Markoff A: Hereditary thrombophilic risk factors for reccurent pregnancy loss.
Journal of Community Genetics; 1:47-53 (2010)
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJM, Torra R, Winearls CHG, Torres VE, Harris PC, Paterson AD, Pei Y: Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD.
Journal of the American Society of Nephrology; 21:1510-1520 (2010)
Markoff A, Gerdes S, Feldner S, Bogdanova N, Gerke V, Grandone E: Reduced allele specific annexin A5 mRNA levels in placentas carrying the M2/ANXA5 allele
Placenta; 31:937-940 (2010)
Wieacker P: Geschlechtsdifferenzierung und ihre Abweichungen.
Göttinger Schriften zum Medizinrecht; Band 10:1-11 (2010)
Wieacker P, Steinhard J: Pränataldiagnostik genetischer Erkrankungen.
Deutsches Ärzteblatt; 48:857-862 (2010)
Georg I, Bagheri-Fam S, Knower KC, Wieacker P, Scherer G, Harley VR: Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Sexual Development, 4:321-325 (2010)
Lionetti E, Pavone P, Kennerknecht I, Failla G, Schepis C, de Pasquale, Pavone L, Ruggieri: Neurological Manifestations in Individuals with Pure Cutaneous or Syndromic (Ruggieri-Happle Syndrome) Phenotypes with „Cutis Tricolor“: A Study of 14 Cases.
Neuropediatrics; 41:60-65 (2010)
Mayer K, Kennerknecht I, Steinmann B: Clinical utility card for: Ehlers-Danlos syndrome types I-VII
European Journal of Human Genetics, online (2010)
Toddenroth D, Dugas M, Kennerknecht I: Sorting chromosomes as a software-based exercise.
Medical Education; 44:1127 (2010)
Krug U, Rölling Ch, Koschmieder A, Heinecke A, Sauerland M.C, Schaich M, Thiede Ch, Kramer M, Braess J, Spiekermann K, Haferlach T, Haferlach C, Koschmieder St, Rohde Ch, Serve H, Wörmann B, Hiddemann W, Ehninger G, Berdel W.E, Büchner T, Müller-Tidow C, for the German Acute Myeloid Leukaemia Cooperative Group and the Study Alliance Leukemia Investigators.
The Lancet; 376:2000-2008 (2010)
2011
Pelz AF, Agaimy A, Daniels M, Evert M, Schul HU, Lüders P, Müller G, Lasota J, Röpke A, Wieacker P, Miettinen M,Schneider-Stock R: Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review.
Human Pathology; 42:586-593 (2011)
Schüring A, Schulte N, Kelsch R, Röpke A, Kiesel L, Götte M: Characterization of endometrial mesenchymal stem-like cells obtained by endometrial biopsy during routine diagnostics.
Fertility and Sterility, 95:423-426 (2011)
Stollhoff R, Jost J, Elze T, Kennerknecht I: Devicits in Long-Term Recognition Memory Reveal Dissociated Subtypes in Congenital Prosopagnosia.
PloS ONE; online 2011
Schneider H, Hammersen J, Preisler-Adams S, Kenneth Huttner, Wolfgang Rascher, Bohring A: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Journal of Medical Genetics; 48:426-432 (2011)
Ruggieri M, Roggini M, Kennerknecht I, Agata Polizzi, Distefano A, Pavone V: Spectrum of sekeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome.
Acta Paediatrica, online (2011)
Psathaki OE, Hübner K, Sabour D, Sebastiano V, Wu G, Sugawa F, Wieacker P, Pennekamp P, Schöler HR: Ultrastructural Characterization of Mouse Embryonic Stem Cell-Derived Oocytes and Granulosa Cells.
Stem Cells and Development; online (2011)
Stollhoff R, Kennerknecht I, Elze T, Jost J: A computational model of dysfunctional facial encoding in congenital prosopagnosia.
Neural Networks; 24:652-664 (2011)
Köhler B, Biebermann H, Friedsam V, Gellermann J, Maier RF, Pohl M, Wieacker P, Hiort O, Grüters A, Krude H: Analysis oft he Wilms‘ Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development.
Journal of Clinical Endocrinology & Metabolism; im Druck (April 2011)
Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A: Copy Numer Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome.
PLoSONE; 6:e19426 (April 2011)
Wieacker P: Genetische Aspekte der Fertilitätsstörungen.
Medizinische Genetik; 23:229-230 (2011)
Ledig S, Wieacker P: Genetische Ursachen der prämaturen Ovarialinsuffizienz und Ovardysgenesie.
Medizinische Genetik, 23:237-243 (2011)
Wieacker P, Preisler-Adams S: Störungen der Bildung von Sexualsteroidhormonen und Hyperandrogenämie bei der Frau.
Medizinische Genetik, 23:244-248 (2011)
Wieacker P, Ledig S: Androgeninsensitivität
Medizinische Genetik, 23:249-253 (2011)
Wieacker P, Ledig S: Störungen der männlichen Gonadendifferenzierung.
Medizinische Genetik, 23:231-236 (2011)
Wieacker P, Ledig S, Bogdanova N: Genetisch bedingte Entwicklungsstörungen der Genitalwege.
Medizinische Genetik, 23:267-270 (2011)
Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Journal of Medical Gentics; 48:426-432 (2011)
Tüttelmann F: Genetische Aspekte bei Spermatogenesestörungen.
Medizinische Genetik, 23:259-266 (2011)
Preisler-Adams S, Bogdanova N: Habituelle Aborte.
Medizinische Genetik, 23:271-274 (2011)
Pennekamp P, Feldner S, Seesing FJ, Psathaki OE, Schöler HR, Wieacker P, Dworniczak B: Bcar3 Is Expressed in Sertoli Cells and Germ Cells oft he Developing Testis in Mice.
Sexual Development; online (2011)
Behre HM, Tüttelmann F, Ledig S, Wieacker P: Hypogonadotroper Hypogonadismus aufgrund eines IHH oder Kallmann-Syndroms beim Mann.
Medizinische Genetik; 23:254-258 (2011)
van Oven M, Hämmerle JM, van Schoor M, Kushnick G, Pennekamp P, Zega I, Lao O, Brown L, Kennerknecht I, Kayser M: Unexpected island effects at an extreme: reduced Y-chromosome and mitochondrial DNA diversity in Nias.
Molecular Biology and Evolution; 28:1349-1361 (2011)
Ledig S, Schippert C, Strick R, Beckmann M, Oppelt PG, Wieacker P: Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertil Sterility;95:1589-1594 (2011)
Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger C.E., Fernandez G: Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.
Journal of Neurolgy; 258:770-782 (2011)