Wieczorek D - Search Results

1

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. Among authors: wieczorek d. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 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 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

4

Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.

Wieczorek D, Majewski F, Gillessen-Kaesbach G. Wieczorek D, et al. Clin Genet. 1997 Jul;52(1):37-46. doi: 10.1111/j.1399-0004.1997.tb02512.x. Clin Genet. 1997. PMID: 9272711 Review.

5

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.

6

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

7

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.

8

Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.

Wieczorek D, Wüsthof A, Harms E, Meinecke P. Wieczorek D, et al. Am J Med Genet. 2001 Nov 15;104(1):47-52. doi: 10.1002/ajmg.1585. Am J Med Genet. 2001. PMID: 11746027

9

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

10

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Musante L, et al. Among authors: wieczorek d. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870

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