Rott HD - Search Results

1

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: rott hd. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.

2

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW. Huehne K, et al. Among authors: rott hd. Hum Mutat. 2003 Jan;21(1):100. doi: 10.1002/humu.9101. Hum Mutat. 2003. PMID: 12497641

3

"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. Among authors: rott hd. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

4

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: rott hd. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

5

Extracutaneous analogies of Blaschko lines.

Rott HD. Rott HD. Am J Med Genet. 1999 Aug 6;85(4):338-41. doi: 10.1002/(sici)1096-8628(19990806)85:4<338::aid-ajmg5>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10398255 Review.

6

Cyst-like cerebral lesions in tuberous sclerosis.

Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K. Rott HD, et al. Am J Med Genet. 2002 Sep 1;111(4):435-9. doi: 10.1002/ajmg.10637. Am J Med Genet. 2002. PMID: 12210306

7

Comments on "osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance".

Kraus C, König R, Rott HD. Kraus C, et al. Among authors: rott hd. Am J Med Genet A. 2003 Jun 15;119A(3):400. doi: 10.1002/ajmg.a.20178. Am J Med Genet A. 2003. PMID: 12784316 No abstract available.

8

Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome.

Schilbach U, Rott HD. Schilbach U, et al. Among authors: rott hd. Am J Med Genet. 1988 Dec;31(4):863-70. doi: 10.1002/ajmg.1320310420. Am J Med Genet. 1988. PMID: 3149147

9

[Autosomal dominant mild juvenile diabetes mellitus (MODY) (author's transl)].

Zinecker S, Rott HD. Zinecker S, et al. Among authors: rott hd. Klin Padiatr. 1980 May;192(3):229-34. doi: 10.1055/s-2008-1035586. Klin Padiatr. 1980. PMID: 7191923 German.

10

Kartagener's syndrome in sibs: clinical and immunologic investigations.

Rott HD, Warnatz H, Pasch-Hilgers R, Weikl A. Rott HD, et al. Hum Genet. 1978 Jul 12;43(1):1-11. doi: 10.1007/BF00396472. Hum Genet. 1978. PMID: 307528

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