Institut* für angewandte Humangenetik und Onkogenetik Professor Froster

Publikationen

41: Falk M, Froster U, Vojtísková M. [Methods of determination of the number of CTG/CAG repeats in trinucleotide repeats in the human genome]. Cas Lek Cesk. 2003;142(10):609-14. Czech. PubMed PMID: 14635426.

42: Froster UG, Glander HJ, Heinritz W. [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]. Hautarzt. 2003 Dec;54(12):1190-2. German. PubMed PMID: 14634749.

43: Werding N, Holland H, Hueckel D, Froster UG, Häusler HJ, Kiess W. Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases. Acta Paediatr. 2003 Jul;92(7):865-8. PubMed PMID: 12892172.

44: Gruenauer-Kloevekorn C, Froster UG. Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. Ann Genet. 2003 Jan-Mar;46(1):19-23. PubMed PMID: 12818525.

45: Kujat A, Alexander H, Glander HJ, Froster UG. Genetic counseling in assisted reproduction: a case of cystic fibrosis identified after two successful intracytoplasmic sperm-injection pregnancies. Arch Androl. 2003 May-Jun;49(3):165-8. PubMed PMID: 12746094.

46: Heinritz W, Kujat A, Froster UG. Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography. Clin Genet. 2003 Apr;63(4):325-7. PubMed PMID: 12702169.

47: Bräutigam S, Kujat A, Kirst P, Seidel J, Lüleyap HU, Froster UG. DHPLC mutation analysis of phenylketonuria. Mol Genet Metab. 2003 Mar;78(3):205-10. PubMed PMID: 12649065.

48: Zuber MA, Krupp W, Holland H, Froster UG. Characterization of chromosomal aberrations in a case of glioblastoma multiforme combining cytogenetic and molecular cytogenetic techniques. Cancer Genet Cytogenet. 2002 Oct 15;138(2):111-5. PubMed PMID: 12505254.

49: Rüffert H, Olthoff D, Deutrich C, Froster UG. [Current aspects of the diagnosis of malignant hyperthermia]. Anaesthesist. 2002 Nov;51(11):904-13. Review. German. PubMed PMID: 12434264.

50: Kotzot D, Hoffmann K, Kujat A, Holland H, Froster UG, Mücke J. Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. Am J Med Genet. 2002 Nov 15;113(1):108-10. PubMed PMID: 12400076.

51: Kotzot D, Dufke A, Tzschach A, Baeckert-Sifeddine IT, Geppert M, Holland H, Florus JM, Froster UG. Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Am J Med Genet. 2002 Sep 15;112(1):51-5. PubMed PMID: 12239720.

52: Zuber MA, Koschny R, Koschny T, Froster UG. Gain of chromosome 7 detected by comparative genomic hybridization accumulates with age in patients with glioblastoma multiforme. Cancer Genet Cytogenet. 2002 Jul 1;136(1):92-4. PubMed PMID: 12165461.

53: Koschny R, Koschny T, Froster UG, Krupp W, Zuber MA. Comparative genomic hybridization in glioma: a meta-analysis of 509 cases. Cancer Genet Cytogenet. 2002 Jun;135(2):147-59. PubMed PMID: 12127399.

54: Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 Jul;46(6):692-8. PubMed PMID: 12059893.

55: Kotzot D, Schönekerl S, Faber R, Hausen D, Kujat A, Froster UG. Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology? Hum Reprod. 2002 Apr;17(4):912-5. PubMed PMID: 11925380.

56: Vink GR, Froster UG. Comparison of FMR1-protein expression in lymphocytes, methylation pattern in Southern blot analysis, and IQ values in three sisters with the fragile X syndrome. Am J Med Genet. 2002 Feb 1;107(4):344-5. PubMed PMID: 11840495.

57: Tzschach A, Thamm B, Imthurn B, Weber W, Alexander H, Glander HJ, Froster U. Absence of Yq microdeletions in infertile men. Arch Androl. 2001 Nov-Dec;47(3):167-71. PubMed PMID: 11695838.

58: Kotzot D, Holland H, Köhler M, Froster UG. A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping. Ann Genet. 2001 Jul-Sep;44(3):135-8. PubMed PMID: 11694225.

59: Rueffert H, Olthoff D, Deutrich C, Froster UG. Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation. Clin Genet. 2001 Aug;60(2):117-24. PubMed PMID: 11553045.

60: Kinne RW, Liehr T, Beensen V, Kunisch E, Zimmermann T, Holland H, Pfeiffer R, Stahl HD, Lungershausen W, Hein G, Roth A, Emmrich F, Claussen U, Froster UG. Mosaic chromosomal aberrations in synovial fibroblasts of patients with rheumatoid arthritis, osteoarthritis, and other inflammatory joint diseases. Arthritis Res. 2001;3(5):319-30. Epub 2001 Aug 3. PubMed PMID: 11549374; PubMed Central PMCID: PMC64845.

61: Rueffert H, Olthoff D, Deutrich C, Thamm B, Froster UG. Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family. Br J Anaesth. 2001 Aug;87(2):240-5. PubMed PMID: 11493496.

62: Kotzot D, Holland H, Keller E, Froster UG. Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation. Am J Med Genet. 2001 Aug 1;102(2):169-72. PubMed PMID: 11477611.

63: Faber R, Stepan H, Schilde M, Froster UG, Horn LC. [Accuracy of prenatal diagnoses in terminated pregnancies--a retrospective analysis of results and influences]. Z Geburtshilfe Neonatol. 2001 Mar-Apr;205(2):54-9. German. PubMed PMID: 11360850.

64: Bodamer OA, Popek EJ, Bacino C. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22;100(2):100-2. PubMed PMID: 11298368.

65: Rueffert H, Kraus H, Olthoff D, Deutrich C, Froster UG. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia. Hum Mutat. 2001 Mar;17(3):238. PubMed PMID: 11241852.

66: Froster UG, Horn LC, Holland H, Strenge S, Faber R. Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings. Prenat Diagn. 2000 Dec;20(12):992-5. PubMed PMID: 11113912.

67: Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M. Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group. Prenat Diagn. 2000 Oct;20(10):811-8. PubMed PMID: 11038459.

68: Rueffert H, Olthoff D, Deutrich C, Kraus H, Froster UG. Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1). Hum Mutat. 2000 Oct;16(4):376. PubMed PMID: 11013460.

69: Gunkel O, Reichenbach H, Thamm B, Wetzel U, Bratanow S, Kirchhof M, Lauer B, Froster U, Schuler G. [Late diagnosis of Curschmann-Steinert myotonic dystrophy in a female patient with dilated cardiomyopathy and in her son]. Z Kardiol. 2000 Jul;89(7):599-605. German. PubMed PMID: 10957785.

70: Froster UG, Reichenbach H. Trisomy of 5p and marker chromosomes. Am J Med Genet. 2000 Jul 3;93(1):76. PubMed PMID: 10861686.

71: Rüffert H, Olthoff D, Deutrich C, Thamm B, Froster U. [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method]. Anaesthesist. 2000 Feb;49(2):113-20. German. PubMed PMID: 10756965.

72: Franke P, Leboyer M, Hardt J, Sohne E, Weiffenbach O, Biancalana V V, Cornillet-Lefebre P, Delobel B, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females. Psychiatry Res. 1999 Oct 11;87(2-3):223-31. PubMed PMID: 10579555.

73: Meiner A, Faber R, Horn LC, Reichenbach H, Froster UG. Prenatal detection of a giant bilateral thoracic vascular lesion: prognostic evaluation and genetic aspects. Prenat Diagn. 1999 Jun;19(6):583-6. PubMed PMID: 10416979.

74: Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG. De novo complete trisomy 5p: clinical report and FISH studies. Am J Med Genet. 1999 Aug 27;85(5):447-51. Review. PubMed PMID: 10405440.

75: Vondran S, Edelmann J, Holland H, Wolf C, Strenge S, Thamm B, Thiele H, Froster UG. Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene. Prenat Diagn. 1999 Jan;19(1):64-7. PubMed PMID: 10073911.

76: Strenge S, Froster UG. Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation. Am J Med Genet. 1998 Dec 28;80(5):506-9. PubMed PMID: 9880217.

77: Franke P, Leboyer M, Gänsicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res. 1998 Aug 17;80(2):113-27. PubMed PMID: 9754690.

78: Meiner A, Holland H, Reichenbach H, Horn LC, Faber R, Froster UG. Tetraploidy in a growth-retarded fetus with a thick placenta. Prenat Diagn. 1998 Aug;18(8):864-5. PubMed PMID: 9742582.

79: Meiner A, Thamm B, Strenge S, Froster U. Instability in the normal CTG repeat range at the myotonic dystrophy locus. J Med Genet. 1998 Sep;35(9):791. PubMed PMID: 9733048; PubMed Central PMCID: PMC1051445.

80: Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998 Jan;18(1):81-3. PubMed PMID: 9425907.

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Institut* für angewandte Humangenetik und Onkogenetik Professor Froster

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