Enders H - Search Results

1

New case of mosaic tetrasomy 9p with additional neurometabolic findings.

Eggermann T, Rossier E, Theurer-Mainka U, Backsch C, Klein-Vogler U, Enders H, Kaiser P. Eggermann T, et al. Among authors: enders h. Am J Med Genet. 1998 Feb 17;75(5):530-3. Am J Med Genet. 1998. PMID: 9489799

2

Molecular and cytogenetic [correction of cytogenate] analysis of an X/autosomal translocation: 45,X,dic(X;17)(p22.2;p13).

Eggermann T, Mau U, Klein-Vogler U, Kendziorra H, Mackensen-Haen S, Sieverding L, Enders H, Kaiser P. Eggermann T, et al. Among authors: enders h. Clin Genet. 1998 Apr;53(4):293-7. doi: 10.1111/j.1399-0004.1998.tb02699.x. Clin Genet. 1998. PMID: 9650768

3

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. Among authors: enders h. Cytogenet Cell Genet. 2000;91(1-4):81-4. doi: 10.1159/000056823. Cytogenet Cell Genet. 2000. PMID: 11173835

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

5

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. Among authors: enders h. Cytogenet Cell Genet. 2001;93(3-4):168-70. doi: 10.1159/000056979. Cytogenet Cell Genet. 2001. PMID: 11528107

6

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. Among authors: enders h. Eur J Hum Genet. 2001 Aug;9(8):572-6. doi: 10.1038/sj.ejhg.5200673. Eur J Hum Genet. 2001. PMID: 11528501

7

Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood.

Mielke G, Enders H, Goelz R, Klein-Vogler U, Ulmer R, Trautmann U. Mielke G, et al. Among authors: enders h. Clin Genet. 1997 Apr;51(4):275-7. doi: 10.1111/j.1399-0004.1997.tb02470.x. Clin Genet. 1997. PMID: 9184253

8

Restrictive dermopathy: report and review.

Mau U, Kendziorra H, Kaiser P, Enders H. Mau U, et al. Among authors: enders h. Am J Med Genet. 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. Am J Med Genet. 1997. PMID: 9217218 Review.

9

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.

Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. Eggermann T, et al. Among authors: enders h. Hum Genet. 1997 Sep;100(3-4):415-9. doi: 10.1007/s004390050526. Hum Genet. 1997. PMID: 9272165

10

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: enders h. Am J Med Genet. 2000 May 15;92(2):153-4. Am J Med Genet. 2000. PMID: 10797442 Review. No abstract available.

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