Wieczorek D - Search Results

1

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Wieczorek D, Engels H, Viersbach R, Henke B, Schwanitz G, Passarge E. Wieczorek D, et al. J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545. J Med Genet. 1998. PMID: 9678698 Free PMC article.

2

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.

Wieczorek D, Gillessen-Kaesbach G, Plewa S, Passarge E. Wieczorek D, et al. Clin Genet. 1996 Feb;49(2):98-102. doi: 10.1111/j.1399-0004.1996.tb04337.x. Clin Genet. 1996. PMID: 8740922

3

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

Wieczorek D, Gillessen-Kaesbach G, Passarge E. Wieczorek D, et al. Genet Couns. 1995;6(4):297-302. Genet Couns. 1995. PMID: 8775415 Review.

4

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet. 1997 Apr 14;69(4):413-7. doi: 10.1002/(sici)1096-8628(19970414)69:4<413::aid-ajmg15>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9098493

5

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: wieczorek d. Hum Genet. 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. Hum Genet. 1997. PMID: 9272157

6

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.

Doerfler W, Wieczorek D, Gillessen-Kaesbach G, Albrecht B, Passarge E. Doerfler W, et al. Among authors: wieczorek d. Am J Med Genet. 1997 Dec 12;73(2):210-6. Am J Med Genet. 1997. PMID: 9409875 Review.

7

A female patient with partial duplication 22 (q13-->qter).

Wieczorek D, Holtvogt J, Thonig S, Gillessen-Kaesbach G. Wieczorek D, et al. Clin Dysmorphol. 1998 Oct;7(4):289-94. doi: 10.1097/00019605-199810000-00010. Clin Dysmorphol. 1998. PMID: 9823497 Review.

8

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852

9

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. J Med Genet. 2000 Oct;37(10):798-804. doi: 10.1136/jmg.37.10.798. J Med Genet. 2000. PMID: 11183188 Free PMC article. No abstract available.

10

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

Wieczorek D, Köster B, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet. 2002 Mar 15;108(3):209-13. doi: 10.1002/ajmg.10271. Am J Med Genet. 2002. PMID: 11891687

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