Gillessen-Kaesbach G - Search Results

1

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. 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.

2

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

3

Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?

Wieczorek D, Bartsch O, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet A. 2003 Jul 30;120A(3):429-33. doi: 10.1002/ajmg.a.20060. Am J Med Genet A. 2003. PMID: 12838568

4

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

Edener U, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. J Neurol. 2011 Jul;258(7):1223-7. doi: 10.1007/s00415-011-5905-4. Epub 2011 Jan 26. J Neurol. 2011. PMID: 21267591

5

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. 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

6

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

7

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G. Hellenbroich Y, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. doi: 10.1016/j.ejmg.2007.05.004. Epub 2007 Jun 3. Eur J Med Genet. 2007. PMID: 17625999

8

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

9

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.

10

Investigation of recessive ataxia loci in patients with young age of onset.

Zühlke C, Bernard V, Gillessen-Kaesbach G. Zühlke C, et al. Neuropediatrics. 2007 Aug;38(4):207-9. doi: 10.1055/s-2007-990268. Neuropediatrics. 2007. PMID: 18058631

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