Wieczorek D - Search Results

1

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B. Yigit G, et al. Among authors: wieczorek d. Am J Med Genet A. 2016 Mar;170(3):728-33. doi: 10.1002/ajmg.a.37484. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26640080

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

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.

5

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

6

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: wieczorek d. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

7

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G. Mitter D, et al. Among authors: wieczorek d. Am J Med Genet A. 2006 Oct 1;140(19):2039-49. doi: 10.1002/ajmg.a.31414. Am J Med Genet A. 2006. PMID: 16906536

8

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1135-42. doi: 10.1002/ajmg.a.31752. Am J Med Genet A. 2007. PMID: 17497718

9

Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.

Zühlke C, Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G. Zühlke C, et al. Among authors: wieczorek d. Am J Med Genet A. 2007 Sep 1;143A(17):2058-61. doi: 10.1002/ajmg.a.31772. Am J Med Genet A. 2007. PMID: 17663477 Review. No abstract available.

10

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: wieczorek d. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262

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