Wieczorek D - Search Results

1

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: wieczorek d. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370

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

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.

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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