Stengel-Rutkowski S - Search Results

1

Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

Eggermann T, Engels H, Moskalonek B, Nöthen MM, Müller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S. Eggermann T, et al. Among authors: stengel rutkowski s. Hum Genet. 1996 May;97(5):568-72. doi: 10.1007/BF02281862. Hum Genet. 1996. PMID: 8655132

2

Tetrasomy 18p caused by paternal meiotic nondisjunction.

Eggermann T, Engels H, Apacik C, Moskalonek B, Müller-Navia J, Schwanitz G, Stengel-Rutkowski S. Eggermann T, et al. Among authors: stengel rutkowski s. Eur J Hum Genet. 1997 May-Jun;5(3):175-7. Eur J Hum Genet. 1997. PMID: 9272743 No abstract available.

3

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.

Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G. Eggermann T, et al. Among authors: stengel rutkowski s. Ann Genet. 1999;42(2):75-80. Ann Genet. 1999. PMID: 10434120 Review.

4

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.

Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S. Apacik C, et al. Among authors: stengel rutkowski s. Clin Genet. 1996 Aug;50(2):63-73. doi: 10.1111/j.1399-0004.1996.tb02350.x. Clin Genet. 1996. PMID: 8937763 Review.

5

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T. Oexle K, et al. Among authors: stengel rutkowski s. Eur J Med Genet. 2011 May-Jun;54(3):225-30. doi: 10.1016/j.ejmg.2010.12.012. Epub 2011 Jan 4. Eur J Med Genet. 2011. PMID: 21211577

6

A familial deletion in the Prader-Willi syndrome region including the imprinting control region.

Schuffenhauer S, Buchholz T, Stengel-Rutkowski S, Buiting K, Schmidt H, Meitinger T. Schuffenhauer S, et al. Hum Mutat. 1996;8(3):288-92. doi: 10.1002/(SICI)1098-1004(1996)8:3<288::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8889594 No abstract available.

7

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B. Stengel-Rutkowski S, et al. Clin Genet. 1992 Oct;42(4):178-85. doi: 10.1111/j.1399-0004.1992.tb03234.x. Clin Genet. 1992. PMID: 1424241 Review.

8

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22).

Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Baumeister FA, et al. Clin Genet. 1993 Sep;44(3):121-8. doi: 10.1111/j.1399-0004.1993.tb03862.x. Clin Genet. 1993. PMID: 8275569 Review.

9

Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations.

Stene J, Stengel-Rutkowski S. Stene J, et al. Hum Genet. 1977 Nov 2;39(1):7-13. doi: 10.1007/BF00273148. Hum Genet. 1977. PMID: 924445

10

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).

Dufke A, Eggermann K, Balg S, Stengel-Rutkowski S, Enders H, Kaiser P. Dufke A, et al. Among authors: stengel rutkowski s. Cytogenet Cell Genet. 2000;91(1-4):85-9. doi: 10.1159/000056824. Cytogenet Cell Genet. 2000. PMID: 11173836

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