Publikationen 2000

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2000

  • Barnett SB, Ter Haar GR, Ziskin MC, Rott HD, Duck FA, Maeda K (2000) International recommendations and guidelines for the safe use of diagnostic ultrasound in medicine. Ultrasound Med Biol 26: 355-66 MEDLINE
  • Bayerlein K, Rith T, Verdorfer I, Liehr T, Wolff E, Girod S, Gebhart E (2000)
    I-FISH control of CGH-detected gain of DNA sequence copy number in oral squamous cell carcinomas (OSCC).
    Anticancer Res 20: 427-32 MEDLINE
  • Behninger C, Rott HD (2000)
    Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.
    Genet Couns 11: 157-67
  • Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nothen MM (2000)
    A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3.
    Am J Hum Genet 66: 1979-1983 MEDLINE
  • Beier KC, Hutloff A, Dittrich AM, Heuck C, Rauch A, Büchner K, Ludewig B, Ochs HD, Mages HW, Kroczek RA (2000)
    Induction, binding specificity and function of human ICOS.
    Eur J Immunol, 30:3707-3717.
  • Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nothen MM (2000)
    Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
    Am J Hum Genet 67:492-7 MEDLINE
  • Burger J, Fonknechten N,Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A (2000)
    Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Eur J Hum Genet 8: 771-6 MEDLINE
  • Dörk T, Macek M, Mekus F, Tümmler B, Tzountzouris, Casals T, Krebsová Alice......Kraus C et al. (2000)
    Characterization of a novel 21-kb deletion, CFTRdele2,3(21kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
    Hum Genet 106: 259-268
  • Dörk T, Macek M, Mekus F, Tümmler B, Tzountzouris, Casals T, Krebsová Alice......Kraus C et al. (2000)
    Characterization of a novel 21-kb deletion, CFTRdele2,3(21kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
    Hum Genet 106: 259-268
  • Gebhart E, (2000)
    Mutagenwirkungen in Keimzellen und frühen Embryonalstadien.
    Reproduktionsmedizin 16: 43-54
  • Gebhart E, Liehr T (2000)
    Patterns of genomic imbalances in human solid tumors (Review).
    Int J Oncol 16: 383-99 MEDLINE
  • Gebhart E, Liehr T (2000)
    Patterns of genomic imbalances in human solid tumors (Review).
    Int J Oncol 16: 383-99 MEDLINE
  • Gunther K, Horbach T, Hohenberger W, Kraus C, Ballhausen W (2000)
    Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer.
    Am J Med 108: 681-3
  • Hass J, Mayer K, Rott HD (2000)
    Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
    Hum Mutat 16: 88 MEDLINE
  • Hass J, Mayer K, Rott HD (2000)
    Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
    Hum Mutat 16: 88 MEDLINE
  • Horn D, Krebsova A, Kunze J, Reis A (2000)
    Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Am J Med Genet 92:285-92 MEDLINE
  • Hrabe de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R (2000)
    Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
    Nat Genet 25: 444-7 MEDLINE
  • Hrabe de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R (2000)
    Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
    Nat Genet 25: 444-7 MEDLINE
  • Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J (2000)
    Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
    Clin Genet 57: 384-7 MEDLINE
  • Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J (2000)
    Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
    Clin Genet 57: 384-7 MEDLINE
  • Krebsova A, Hamm H, Karl S, Reis A, Hennies HC (2000)
    Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13.
    J Invest Dermatol 115: 664-7 MEDLINE
  • Krebsova A, Hamm H, Karl S, Reis A, Hennies HC (2000)
    Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13.
    J Invest Dermatol 115: 664-7 MEDLINE
  • Kurz T, Strauch K, Heinzmann A, Braun S, Jung M, Ruschendorf F, Moffatt MF, Cookson WO, Inacio F, Ruffilli A, Nordskov-Hansen G, Peltre G, Forster J, Kuehr J, Reis A, Wienker TF, Deichmann KA (2000)
    A European study on the genetics of mite sensitization.
    J Allergy Clin Immunol 106: 925-932 MEDLINE
  • Kurz T, Strauch K, Heinzmann A, Braun S, Jung M, Ruschendorf F, Moffatt MF, Cookson WO, Inacio F, Ruffilli A, Nordskov-Hansen G, Peltre G, Forster J, Kuehr J, Reis A, Wienker TF, Deichmann KA (2000)
    A European study on the genetics of mite sensitization.
    J Allergy Clin Immunol 106: 925-932 MEDLINE
  • Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G, Stander M, Wienker TF, Reis A, Traupe H (2000)
    Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome19p13.
    Am J Hum Genet 67: 1020-4 MEDLINE
  • Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G, Stander M, Wienker TF, Reis A, Traupe H (2000)
    Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome19p13.
    Am J Hum Genet 67: 1020-4 MEDLINE
  • Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, Berg A, Hoffmann U, Kuster W, Wienker T, Ruschendorf F, Reis A (2000)
    A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
    Nat Genet 26: 470-3 MEDLINE
  • Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, Berg A, Hoffmann U, Kuster W, Wienker T, Ruschendorf F, Reis A (2000)
    A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
    Nat Genet 26: 470-3 MEDLINE
  • Mayer K, Ballhausen W, Leistner W, Rott H (2000)
    Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences(1).
    Biochim Biophys Acta 1502: 495-507
  • Mayer K, Ballhausen W, Leistner W, Rott H (2000)
    Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences(1).
    Biochim Biophys Acta 1502: 495-507
  • Mohrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lamprecht I, Abeck D, Ring J (2000)
    Sjogren-Larsson syndrome.
    Hautarzt 51: 250-5
  • Mohrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lamprecht I, Abeck D, Ring J (2000)
    Sjogren-Larsson syndrome.
    Hautarzt 51: 250-5
  • Ozonoff S WB, Rauch A, Opitz JM (2000)
    Behaviour Phenotype of FG Syndrome: Cognition, Personality, and Behaviour in Eleven Affected Boys.
    Am J Med Genet 97: 112-118
  • Rautenstrauss B, Timmermann V, Lupski JR. ( WWW.EMQN.ORG ) European guidelines for molecular genetic diagnosis of Charcot-Marie-Tooth disease.
  • Rautenstrauss B, Timmermann V, Lupski JR. ( WWW.EMQN.ORG ) European guidelines for molecular genetic diagnosis of Charcot-Marie-Tooth disease.
  • Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenite DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A (2000)
    Genome search for susceptibilityloci of common idiopathic generalised epilepsies.
    Hum Mol Genet 9: 1465-72 MEDLINE
  • Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenite DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A (2000)
    Genome search for susceptibilityloci of common idiopathic generalised epilepsies.
    Hum Mol Genet 9: 1465-72 MEDLINE
  • Schwanitz G, Gebhart E, Rott HD (2000)
    Gerhard koch 1913-1999.
    Am J Med Genet 95:191-2 MEDLINE
  • Schwanitz G, Gebhart E, Rott HD (2000)
    Gerhard koch 1913-1999.
    Am J Med Genet 95:191-2 MEDLINE
  • Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wan Y, Haaf (2000)
    FISH mapping of the sex-reversal region on human chromosome 9 p in two females and in primates.
    Eur J Hum Genet 8: 167-173 MEDLINE
  • Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wan Y, Haaf (2000)
    FISH mapping of the sex-reversal region on human chromosome 9 p in two females and in primates.
    Eur J Hum Genet 8: 167-173 MEDLINE
  • Ulmer R, Pfeiffer RA, Kollert A, Beinder E (2000)
    Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations.
    Z Geburtshilfe Neonatol 204: 1-7
  • Ulmer R, Pfeiffer RA, Kollert A, Beinder E (2000)
    Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations.
    Z Geburtshilfe Neonatol 204: 1-7
  • Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij IIC, Knoers NV, Cochat P, Sulakova T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M (2000)
    Familial hypomagnesaemia with hypercalciuria and depletc nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
    Eur J Hum Genet 8: 414-22 MEDLINE
 
 
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