Uniparentale Disomien und Isochromosomen : Untersuchungen zu Entstehung, molekularen und klinischen Konsequenzen

Eggermann, Thomas; Heimann, Gerhard; Zerres, Klaus; Blin, N.

doi:24669

Uniparentale Disomien und Isochromosomen : Untersuchungen zu Entstehung, molekularen und klinischen Konsequenzen

Eggermann, Thomas^RWTH*

2002

Verantwortlichkeitsangabevorgelegt von Dr. rer. nat. Thomas Eggermann

2002

UmfangGetr. Zählung : Ill., graph. Darst.

Habilitationsschrift, Aachen, Techn. Hochsch., 2002, Kumulative Habilitationsschrift

Habilitationsschrift zur Erlangung der Venia legendi für das Fach Humangenetik an der Hohen Medizinischen Fakultät der Rheinisch-Westfälisch Technischen Hochschule Aachen

Genehmigende Fakultät
Fak00

Hauptberichter/Gutachter
Zerres, Klaus (Thesis advisor)^RWTH* ; Heimann, Gerhard (Thesis advisor)^RWTH* ; Blin, N. (Thesis advisor)

Tag der mündlichen Prüfung/Habilitation
2002-04-22

Einrichtungen

RWTH Aachen (hsbk000000)

Kurzfassung
online nicht verfügbar

Dokumenttyp
Habil / Postdoctoral Thesis (Non-german Habil)

Format
print

Sprache
Multiple

Externe Identnummern
HBZ: HT013420055

Interne Identnummern
RWTH-2020-04717
Datensatz-ID: 788721

Beteiligte Länder
Germany

Journal Article Eggermann, K.RWTH* ; Wollmann, H. A. ; Binder, G. ; Kaiser, P. ; Ranke, M. B. ; Eggermann, T.
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely.
Annales de génétique 42(2), 117-121 (1999)1999 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T.RWTH* ; Schubert, R. ; Engels, H. ; Apacik, C. ; Stengel-Rutkowski, S. ; Haefliger, C. ; Emiliani, V. ; Ricagni, C. ; Schwanitz, G.
Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.
Annales de génétique 42(2), 75-80 (1999)1999 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Corresponding author) ; Eggermann, K. ; Mergenthaler, S. ; Kuner, R. ; Kaiser, P. ; Ranke, M. B. ; Wollmann, H. A.
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome
Journal of medical genetics 35(9), 784-786 (1998) [10.1136/jmg.35.9.784]1998 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T.RWTH* ; Wollmann, H. A. ; Kuner, R. ; Eggermann, K. ; Enders, H. ; Kaiser, P. ; Ranke, M. B.
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
Human genetics 100(3/4), 415-419 (1997) [10.1007/s004390050526]1997 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. ; Engels, H. ; Apacik, C. ; Moskalonek, B. ; Müller-Navia, J. ; Schwanitz, G. ; Stengel-Rutkowski, S.
Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction
European journal of human genetics 5(3), 175-177 (1997) [10.1159/000484755]1997 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T.RWTH* ; Engels, H. ; Moskalonek, B. ; Nöthen, M. M. ; Müller-Navia, J. ; Schleiermacher, E. ; Schwanitz, G. ; Stengel-Rutkowski, S.
Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
Human genetics 97(5), 568-572 (1996) [10.1007/BF02281862]1996 BibTeX | EndNote: XML, Text | RIS

Journal Article Sharp, A. (Author) ; Moore, G. (Author) ; Eggermann, T. (Author)
Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome
European journal of human genetics : EJHG 9(12), 887-891 (2001) [10.1038/sj.ejhg.5200740]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Marg, W. (Author) ; Mergenthaler, S. (Author) ; Eggermann, K. (Author) ; Schemmel, V. (Author) ; Stoffers, U. (Author) ; Zerres, K. (Author) ; Spranger, S. (Author)
Origin of uniparental disomy 6 : presentation of a new case and review on the literature
Annales de génétique 44(1), 41-45 (2001) [10.1016/S0003-3995(01)01035-8]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Kloos, P. (Author) ; Mergenthaler, S. (Author) ; Eggermann, K. (Author) ; Dobos, M. (Author) ; Ranke, M. B. (Author) ; Wollmann, H. A. (Author)
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver–Russell syndrome
Clinical genetics 59(5), 371-373 (2001) [10.1034/j.1399-0004.2001.590515.x]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, K. (Author) ; Wollmann, H. A. (Author) ; Tomiuk, J. (Author) ; Ranke, M. B. (Author) ; Kaiser, P. (Author) ; Eggermann, T. (Author)
Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients
Human heredity 49(3), 123-128 (1999) [10.1159/000022858]1999 BibTeX | EndNote: XML, Text | RIS

Journal Article Mergenthaler, S. (Author) ; Sharp, A. (Author) ; Ranke, M. B. (Author) ; Kalscheuer, V. M. (Author) ; Wollmann, H. A. (Author) ; Eggermann, T. (Author)
Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13
Genetic testing 5(3), 261-266 (2001) [10.1089/10906570152742335]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Mergenthaler, S. ; Hitchins, M. P. ; Blagitko-Dorfs, N. ; Monk, D. ; Wollmann, H. A. ; Ranke, M. B. ; Ropers, H.-H. ; Apostolidou, S. ; Stanier, P. ; Preece, M. ; Eggermann, T.
Conflicting reports of imprinting status of human GRB10 in developing brain : how reliable are somatic cell hybrids for predicting allelic origin of expression?
American journal of human genetics 68, 543-544 (2001) [10.1086/318192]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Mergenthaler, S. (Author) ; Blagitko-Dorfs, N. (Author) ; Wollmann, H. A. (Author) ; Ranke, M. B. (Author) ; Ropers, H. H. (Author) ; Kalscheuer, V. M. (Author) ; Eggermann, T. (Author)
Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the Y2-COP (COPG2) gene by screening of Silver-Russell syndrome patients
Human mutation 16(1), 96-96 (2000)2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Mergenthaler, S. (Author) ; Eggermann, K. (Author) ; Wollmann, H. A. (Author) ; Kaiser, P. (Author) ; Ranke, M. B. (Author) ; Eggermann, T. (Author)
Evidence against a major role of PAX4 in Silver-Russell syndrome
Journal of medical genetics 37, 44-44 (2000)2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Mergenthaler, S. (Author) ; Wollmann, H. A. (Author) ; Burger, B. (Author) ; Eggermann, K. (Author) ; Kaiser, P. (Author) ; Ranke, M. B. (Author) ; Schwanitz, G. (Author) ; Eggermann, T. (Author)
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
Annales de génétique 43, 15-21 (2000) [10.1016/S0003-3995(00)00010-1]2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Kloos, P. (Author) ; Mergenthaler, S. (Author) ; Ranke, M. B. (Author) ; Wollmann, H. A. (Author) ; Eggermann, T. (Author)
Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene
Human mutation 16(6), 533-533 (2000) [10.1002/1098-1004(200012)16:6<533::aid-humu23>3.0.co;2-2]2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Wollmann, H. A. (Author) ; Zerres, K. (Author)
Maternale uniparentale Disomie 14 Ein weiteres Imprintingsyndrom : ein weiteres Imprintingsyndrom
Monatsschrift Kinderheilkunde 150(7), 856-865 (2002) [10.1007/s00112-002-0477-0]2002 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Mergenthaler, S. (Author) ; Eggermann, K. (Author) ; Albers, A. (Author) ; Linnemann, K. (Author) ; Fusch, C. (Author) ; Ranke, M. B. (Author) ; Wollmann, H. A. (Author)
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
Journal of medical genetics 38(2), 86-89 (2001) [10.1136/jmg.38.2.86]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, K. (Author) ; Eggermann, T. (Author) ; Mergenthaler, S. (Author) ; Ranke, M. B. (Author) ; Kalscheuer, V. M. (Author) ; Vollmann, H. A. (Author)
Silver-Russell-Syndrom (SRS): Stand der Forschung und Indikationen zur Untersuchung auf uniparentale Disomie 7 (UPD7)
Medizinische Genetik 12(2), 348-352 (2000)2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Bujdoso, G. (Author) ; Haug, T. (Author) ; Heidrich-Kaul, C. (Author) ; Fekete, G. (Author) ; Bocos, M. (Author) ; Schwanitz, G. (Author)
Studies on the origin of aberrations of chromosome 18 and their application for genetic counselling
Orvosi hetilap 141(30), 1667-1671 (2000)2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Eggermann, T. (Author) ; Wolf, M. (Author) ; Spaich, C. (Author) ; Uyanik, G. (Author) ; Wolff, G. (Author) ; Eggermann, K. (Author) ; Mau-Holzmann, U. A. (Author) ; Kaiser, P. (Author)
Search for uniparental disomy 14 in balanced Robertsonian translocation carriers
Clinical genetics 56(6), 464-466 (1999) [10.1034/j.1399-0004.1999.560611.x]1999 BibTeX | EndNote: XML, Text | RIS

Journal Article Dufke, A. (Author) ; Walczak, C. (Author) ; Liehr, T. (Author) ; Starke, H. (Author) ; Trifonov, V. (Author) ; Schöning, M. (Author) ; Enders, H. (Author) ; Eggermann, T. (Author)
Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome : extraordinary finding of an analphoid inverted duplicated marker
European journal of human genetics : EJHG 9, 572-576 (2001) [10.1038/sj.ejhg.5200673]2001 BibTeX | EndNote: XML, Text | RIS

Journal Article Blagitko, N. (Author) ; Mergenthaler, S. (Author) ; Schulz, U. (Author) ; Wollmann, H. A. (Author) ; Craigen, W. (Author) ; Eggermann, T. (Author) ; Ropers, H. H. (Author) ; Kalscheuer, V. M. (Author)
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
Human molecular genetics 11, 1587-1595 (2000) [10.1093/hmg/9.11.1587]2000 BibTeX | EndNote: XML, Text | RIS

Journal Article Albrecht, B. (Author) ; Mergenthaler, S. (Author) ; Eggermann, K. (Author) ; Zerres, K. (Author) ; Passarge, E. (Author) ; Eggermann, T. (Author)
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
Journal of medical genetics 38(3), 214 (2001) [10.1136/jmg.38.3.214]2001 BibTeX | EndNote: XML, Text | RIS

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Record created 2020-04-30, last modified 2025-09-30

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Uniparentale Disomien und Isochromosomen : Untersuchungen zu Entstehung, molekularen und klinischen Konsequenzen

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