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Publications - Human biology

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RWTH Aachen publication data base

Original articles:

Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schüler HM, Korsch E, Schwanitz G (2005) Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q. Am J Med Genet 134:305-308

Eggermann K, Bergmann C, Heil I, Eggermann T, Zerres K, Schüler HM (2005) Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature. Am J Med Genet 134:226-228

Eggermann T, Meyer E, Obermann C, Heil I, Schüler HM, Ranke MB, Eggermann K, Wollmann HA (2005) Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 42:e26

 

Meeting abstracts:

Eggermann K, Bergmann C, Heil I, Zerres K, Schüler HM (2003) A new proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): Case report and charaterisation of the phenotype. Medgen 15:303

Schüler HM, Senderek J, Heil I, Raff R, Schellberg R, Zerres K (2003) Premature ovarian failure in an otherwise normal woman with de novo unbalanced X/autosome translocation characterised by subtelomere screening. Medgen 15:311

Schüler HM, Heil I, Zerres K (2003) FISH mittels Subtelomer-Proben – nur der Anfang vom Lied. Vortrags-Abstract für das 37. Arbeitstreffen Klinische Genetik Nordrhein, Aachen (07.10.)

Heil I, Rudnik-Schöneborn S, Busse S, Schüler HM (2004) Eine seltene chromosomale Aberration: Partielle Trisomie 2q35-q37.3, charakterisiert mittels Mikro-FISH. Vortrags-Abstract für das 38. Arbeitstreffen Klinische Genetik Nordrhein, Bonn (19.04.)

Heil I, Rudnik-Schöneborn S, Busse S, Schüler HM (2004) A rare chromosomal aberration: partial trisomy 2q35-q37.3. Eur J Hum Genet 12:129

Meyer E, Obermann C, Heil I, Schüler HM, Eggermann K, Wollmann H, Eggermann T (2005) Is Silver-Russel syndrome associated with maternal duplication of 11p15? Medgen 17:90

Heil I, Rudnik-Schöneborn S, Eggermann T, Schüler HM (2005) Pure maternal trisomy of distal 11p as a result of a non-reciprocal translocation characterised by microdissection. Medgen 17:92