Rauch A - Search Results

1

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

Zweier C, Trautmann U, Ekici A, Rauch A. Zweier C, et al. Among authors: rauch a. Eur J Med Genet. 2008 Jul-Aug;51(4):358-61. doi: 10.1016/j.ejmg.2008.01.005. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342594

2

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).

Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R. Rauch A, et al. Clin Genet. 1992 Aug;42(2):84-90. doi: 10.1111/j.1399-0004.1992.tb03145.x. Clin Genet. 1992. PMID: 1424236

3

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.

Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD. Liehr T, et al. Among authors: rauch a. Hum Genet. 1996 Jul;98(1):22-8. doi: 10.1007/s004390050154. Hum Genet. 1996. PMID: 8682501

4

Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".

Rauch A, Trautmann U, Pfeiffer RA. Rauch A, et al. Am J Med Genet. 1996 May 3;63(1):243-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8723117 Review.

5

Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.

Rauch A, Pfeiffer RA, Trautmann U. Rauch A, et al. Clin Genet. 1996 Jun;49(6):279-85. doi: 10.1111/j.1399-0004.1996.tb03789.x. Clin Genet. 1996. PMID: 8884075

6

Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

Pfeiffer RA, Kändler C, Sieber E, Rauch A, Trautmann U. Pfeiffer RA, et al. Among authors: rauch a. Clin Genet. 1997 May;51(5):357-60. doi: 10.1111/j.1399-0004.1997.tb02489.x. Clin Genet. 1997. PMID: 9212188

7

Monozygotic twins concordant for Cayler syndrome.

Rauch A, Hofbeck M, Bähring S, Leipold G, Trautmann U, Singer H, Pfeiffer RA. Rauch A, et al. Am J Med Genet. 1998 Jan 6;75(1):113-7. Am J Med Genet. 1998. PMID: 9450869

8

True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists.

Pfeiffer RA, Ulmer R, Rauch A, Trautmann U, Beinder E, Rupprecht T, Mayer U, Steinkirchner B, Wündisch GF. Pfeiffer RA, et al. Among authors: rauch a. Prenat Diagn. 1997 Dec;17(12):1171-5. doi: 10.1002/(sici)1097-0223(199712)17:12<1171::aid-pd181>3.0.co;2-k. Prenat Diagn. 1997. PMID: 9467815

9

Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).

Pfeiffer RA, Rauch A, Ulmer R, Beinder E, Trautmann U. Pfeiffer RA, et al. Among authors: rauch a. Ann Genet. 1998;41(1):17-21. Ann Genet. 1998. PMID: 9599646 Review.

10

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.

Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA. Rauch A, et al. Am J Med Genet. 1998 Jul 24;78(4):322-31. Am J Med Genet. 1998. PMID: 9714433

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