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Items: 17

1.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.

J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2.

2.

PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2).

Röpke A, Kalinski T, Kluba U, von Falkenhausen U, Wieacker PF, Röpke M.

Cytogenet Genome Res. 2007;119(1-2):33-8. Epub 2007 Dec 14.

PMID:
18160779
3.

Distribution of sex chromosomes in dysgenetic gonads of mixed type.

Röpke A, Kalinski T, Mohnike K, Sel S, Jakubiczka S, Pelz AF, Roessner A, Wieacker PF.

Cytogenet Genome Res. 2007;116(1-2):146-51.

PMID:
17268195
4.

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.

Röpke A, Buhtz P, Böhm M, Seger J, Wieland I, Allhoff EP, Wieacker PF.

Oncogene. 2005 Oct 6;24(44):6667-75.

PMID:
16007164
5.

Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting.

Pelz AF, Weilepp G, Wieacker PF.

Cancer Genet Cytogenet. 2005 Jan 1;156(1):59-61.

PMID:
15588857
6.

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF.

J Med Genet. 2004 May;41(5):e54. No abstract available.

7.

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

Röpke A, Pelz AF, Volleth M, Schlösser HW, Morlot S, Wieacker PF.

Am J Obstet Gynecol. 2004 Apr;190(4):1059-62.

PMID:
15118641
8.

Molecular characterization of the DICE1 (DDX26) tumor suppressor gene in lung carcinoma cells.

Wieland I, Röpke A, Stumm M, Sell C, Weidle UH, Wieacker PF.

Oncol Res. 2001;12(11-12):491-500.

PMID:
11939413
9.

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.

Musebeck J, Mohnike K, Beye P, Tönnies H, Neitzel H, Schnabel D, Grüters A, Wieacker PF, Stumm M.

Eur J Pediatr. 2001 Sep;160(9):561-5.

PMID:
11585080
10.

Chimerism in a fertile woman with 46,XY karyotype and female phenotype.

Sudik R, Jakubiczka S, Nawroth F, Gilberg E, Wieacker PF.

Hum Reprod. 2001 Jan;16(1):56-58.

PMID:
11139536
11.

Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.

Jakubiczka S, Mitulla B, Liehr T, Arnemann J, Lehrach H, Sudbrak R, Stumm M, Wieacker PF, Bettecken T.

Prenat Diagn. 2000 Oct;20(10):842-6.

PMID:
11038467
12.

The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin.

Dadze S, Wieland C, Jakubiczka S, Funke K, Schröder E, Royer-Pokora B, Willers R, Wieacker PF.

Mol Hum Reprod. 2000 Mar;6(3):207-14.

PMID:
10694266
13.

Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.

Stumm M, Koch A, Wieacker PF, Phillip C, Steinbach F, Allhoff EP, Buhtz P, Walter H, Tönnies H, Wirth J.

Cancer Genet Cytogenet. 1999 Nov;115(1):82-5. No abstract available.

PMID:
10565308
14.

Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.

Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker PF.

Eur J Pediatr. 1999 Jul;158(7):571-5.

PMID:
10412817
15.

Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.

Stumm M, Tönnies H, Wieacker PF.

Eur J Pediatr. 1999 Jul;158(7):531-6. Review.

PMID:
10412808
16.

Clinical and molecular aspects of androgen receptor defects.

Wieacker PF, Knoke I, Jakubiczka S.

Exp Clin Endocrinol Diabetes. 1998;106(6):446-53. Review.

PMID:
10079022
17.

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF.

Hum Genet. 1985;70(1):38-42.

PMID:
2987105

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