Rauch AM - Search Results

1

Klinefelter syndrome and mediastinal germ cell tumors.

Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, Dörr HG. Völkl TM, et al. Among authors: rauch am. Am J Med Genet A. 2006 Mar 1;140(5):471-81. doi: 10.1002/ajmg.a.31103. Am J Med Genet A. 2006. PMID: 16470792

2

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.

3

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.

4

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.

Weissörtel R, Strom TM, Dörr HG, Rauch A, Meitinger T. Weissörtel R, et al. Clin Genet. 1998 Jul;54(1):45-51. doi: 10.1111/j.1399-0004.1998.tb03692.x. Clin Genet. 1998. PMID: 9727739

5

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

Rauch A, Feindt KA, Leonard CO, Thompson JA, Hoffman RO, Creel DJ, Opitz JM. Rauch A, et al. Am J Med Genet. 1999 Jan 15;82(2):194-8. doi: 10.1002/(sici)1096-8628(19990115)82:2<194::aid-ajmg18>3.0.co;2-7. Am J Med Genet. 1999. PMID: 9934988

6

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. Eur J Pediatr. 1999 Mar;158(3):213-6. doi: 10.1007/s004310051052. Eur J Pediatr. 1999. PMID: 10094441

7

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

8

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. Zweier C, et al. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

9

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

10

Search for somatic 22q11.2 deletions in patients with conotruncal heart defects.

Rauch A, Hofbeck M, Cesnjevar R, Koch A, Rauch R, Buheitel G, Singer H, Weyand M. Rauch A, et al. Am J Med Genet A. 2004 Jan 15;124A(2):165-9. doi: 10.1002/ajmg.a.20323. Am J Med Genet A. 2004. PMID: 14699615

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