Dufke A - Search Results

1

Mosaic trisomy 21/monosomy 21 in a living female infant.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Nguyen HP, et al. Among authors: dufke a. Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14. Cytogenet Genome Res. 2009. PMID: 19617693

2

Rare case of De Novo interstitial deletion 2q13q21: clinical, cytogenetic, and molecular studies.

Eggermann K, Dufke A, Enders H, Kaiser P, Stötter M, Eggerman T. Eggermann K, et al. Among authors: dufke a. Am J Med Genet. 2000 May 15;92(2):153-4. Am J Med Genet. 2000. PMID: 10797442 Review. No abstract available.

3

Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader-Willi syndrome.

Walczak C, Enders H, Grissinger K, Dufke A. Walczak C, et al. Among authors: dufke a. Prenat Diagn. 2000 Nov;20(11):914-6. doi: 10.1002/1097-0223(200011)20:11<914::aid-pd939>3.0.co;2-6. Prenat Diagn. 2000. PMID: 11113895

4

Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome.

Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H. Dufke A, et al. Cytogenet Cell Genet. 2000;91(1-4):81-4. doi: 10.1159/000056823. Cytogenet Cell Genet. 2000. PMID: 11173835

5

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. Cytogenet Cell Genet. 2000;91(1-4):85-9. doi: 10.1159/000056824. Cytogenet Cell Genet. 2000. PMID: 11173836

6

Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.

Binder G, Eggermann T, Enders H, Ranke MB, Dufke A. Binder G, et al. Among authors: dufke a. J Pediatr. 2001 Feb;138(2):285-7. doi: 10.1067/mpd.2001.110277. J Pediatr. 2001. PMID: 11174634

7

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23).

Dufke A, Mayrhofer H, Enders H, Kaiser P, Leipoldt M. Dufke A, et al. Cytogenet Cell Genet. 2001;93(3-4):168-70. doi: 10.1159/000056979. Cytogenet Cell Genet. 2001. PMID: 11528107

8

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.

Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning M, Enders H, Eggermann T. Dufke A, et al. Eur J Hum Genet. 2001 Aug;9(8):572-6. doi: 10.1038/sj.ejhg.5200673. Eur J Hum Genet. 2001. PMID: 11528501

9

Chromosomal mosaicism in familial reciprocal translocation carriers: necessity of karyotyping different tissues.

Dufke A, Leipoldt M, Enders H. Dufke A, et al. Am J Med Genet A. 2003 Sep 1;121A(3):292. doi: 10.1002/ajmg.a.20288. Am J Med Genet A. 2003. PMID: 12923876 No abstract available.

10

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A. Grasshoff U, et al. Among authors: dufke a. Cytogenet Genome Res. 2003;103(1-2):17-23. doi: 10.1159/000076282. Cytogenet Genome Res. 2003. PMID: 15004458

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