Stengel-Rutkowski S - Search Results

1

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

2

Abilities and needs of children with genetic syndromes.

Stengel-Rutkowski S, Anderlik L. Stengel-Rutkowski S, et al. Genet Couns. 2005;16(4):383-91. Genet Couns. 2005. PMID: 16440881

3

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Iwanowski PS, Stengel-Rutkowski S, Anderlik L, Pilch J, Midro AT. Iwanowski PS, et al. Among authors: stengel rutkowski s. Genet Couns. 2005;16(1):31-40. Genet Couns. 2005. PMID: 15844776

4

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

5

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.

6

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M. Brown SA, et al. Among authors: stengel rutkowski s. Nat Genet. 1998 Oct;20(2):180-3. doi: 10.1038/2484. Nat Genet. 1998. PMID: 9771712

7

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.

8

[Juvenile hyaline fibromatosis].

Schaller M, Stengel-Rutkowski S, Sollberg S, Kind P. Schaller M, et al. Among authors: stengel rutkowski s. Hautarzt. 1997 Apr;48(4):253-7. doi: 10.1007/s001050050579. Hautarzt. 1997. PMID: 9206714 German.

9

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.

10

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

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