Rauch A - Search Results

1

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Plötz S, Farrell M, Trautmann U, Kraus C, Ekici AB, Asadollahi R, Regensburger M, Günther K, Rauch A, Edenhofer F, Winkler J, Winner B, Reis A. Popp B, et al. Among authors: rauch a. Sci Rep. 2018 Nov 21;8(1):17201. doi: 10.1038/s41598-018-35506-0. Sci Rep. 2018. PMID: 30464253 Free PMC article.

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

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. Rauch A, et al. Am J Med Genet. 2001 Apr 1;99(4):338-42. doi: 10.1002/ajmg.1203. Am J Med Genet. 2001. PMID: 11252005

9

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A. Thiel CT, et al. Among authors: rauch a. Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865

10

A novel 5q35.3 subtelomeric deletion syndrome.

Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893

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