Reis A - Search Results

1

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Müller D, Vayá A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K. Hoffmann K, et al. Among authors: reis a. Nat Genet. 2002 Aug;31(4):410-4. doi: 10.1038/ng925. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118250

2

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC. Eckl KM, et al. Among authors: reis a. Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19. Hum Genet. 2003. PMID: 12483299

3

Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes.

Varon R, Schoch C, Reis A, Hiddemann WC, Sperling K, Schnittger S. Varon R, et al. Among authors: reis a. Leuk Lymphoma. 2003 Nov;44(11):1931-4. doi: 10.1080/1042819031000099724. Leuk Lymphoma. 2003. PMID: 14738145

4

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Hennies HC, et al. Among authors: reis a. Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154116 Free PMC article.

5

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Trimborn M, et al. Among authors: reis a. Am J Hum Genet. 2004 Aug;75(2):261-6. doi: 10.1086/422855. Epub 2004 Jun 15. Am J Hum Genet. 2004. PMID: 15199523 Free PMC article.

6

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R. Dutrannoy V, et al. Among authors: reis a. Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315. Hum Mutat. 2010. PMID: 20597108

7

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: reis a. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276

8

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: reis a. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.

9

Genetics and B-cell leukaemia.

Reis A. Reis A. Lancet. 1999 Jan 2;353(9146):3. doi: 10.1016/S0140-6736(05)74879-0. Lancet. 1999. PMID: 10023938 No abstract available.

10

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

Appel S, Filter M, Reis A, Hennies HC, Bergheim A, Ogilvie E, Arndt S, Simmons A, Lovett M, Hide W, Ramsay M, Reichwald K, Zimmermann W, Rosenthal A. Appel S, et al. Among authors: reis a. Eur J Hum Genet. 2002 Jan;10(1):17-25. doi: 10.1038/sj.ejhg.5200750. Eur J Hum Genet. 2002. PMID: 11896452

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