Rauch A - Search Results

1

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.

Pfeiffer RA, Rauch A, Trautmann U, Dörr HG, Hiort O, Scherer G, Rösch G, Papadopoulos T, v d Hardt K, Lachmann E. Pfeiffer RA, et al. Among authors: rauch a. Eur J Pediatr. 1999 Mar;158(3):213-6. doi: 10.1007/s004310051052. Eur J Pediatr. 1999. PMID: 10094441

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

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.

4

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

5

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

6

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

7

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

8

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries.

Hofbeck M, Rauch A, Buheitel G, Leipold G, von der Emde J, Pfeiffer R, Singer H. Hofbeck M, et al. Among authors: rauch a. Heart. 1998 Feb;79(2):180-5. doi: 10.1136/hrt.79.2.180. Heart. 1998. PMID: 9538313 Free PMC article.

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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