Rauch A - Search Results

1

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: rauch a. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902

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

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

4

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

5

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. Among authors: rauch a. 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.

6

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. Among authors: rauch a. Clin Genet. 1998 Jul;54(1):45-51. doi: 10.1111/j.1399-0004.1998.tb03692.x. Clin Genet. 1998. PMID: 9727739

7

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

8

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: rauch a. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564. Eur J Hum Genet. 2000. PMID: 11175284

9

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

10

Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U. Zenker M, et al. Among authors: rauch a. Clin Dysmorphol. 2002 Jan;11(1):43-8. doi: 10.1097/00019605-200201000-00009. Clin Dysmorphol. 2002. PMID: 11822705

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