Reis A - Search Results

1

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: reis a. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

2

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al. Reis A, et al. Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174. Nat Genet. 1994. PMID: 7512862

3

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K. Saar K, et al. Among authors: reis a. Am J Hum Genet. 1997 Mar;60(3):605-10. Am J Hum Genet. 1997. PMID: 9042920 Free PMC article.

4

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.

Chrzanowska K, Stumm M, Bialecka M, Saar K, Bernatowska-Matuszkiewicz E, Michalkiewicz J, Barszcz S, Reis A, Wegner RD. Chrzanowska K, et al. Among authors: reis a. Clin Genet. 1997 May;51(5):309-13. doi: 10.1111/j.1399-0004.1997.tb02479.x. Clin Genet. 1997. PMID: 9212178

5

Gene localization for an autosomal dominant familial periodic fever to 12p13.

Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Mulley J, et al. Among authors: reis a. Am J Hum Genet. 1998 Apr;62(4):884-9. doi: 10.1086/301793. Am J Hum Genet. 1998. PMID: 9529351 Free PMC article.

6

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: reis a. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

7

Localisation of a Fanconi anaemia gene to chromosome 9p.

Saar K, Schindler D, Wegner RD, Reis A, Wienker TF, Hoehn H, Joenje H, Sperling K, Digweed M. Saar K, et al. Among authors: reis a. Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8. doi: 10.1038/sj.ejhg.5200241. Eur J Hum Genet. 1998. PMID: 9801875

8

Hereditary isolated renal magnesium loss maps to chromosome 11q23.

Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F, Reis A, Monnens LA, Knoers NV. Meij IC, et al. Among authors: reis a. Am J Hum Genet. 1999 Jan;64(1):180-8. doi: 10.1086/302199. Am J Hum Genet. 1999. PMID: 9915957 Free PMC article.

9

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.

Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M. Waisfisz Q, et al. Among authors: reis a. Am J Hum Genet. 1999 May;64(5):1400-5. doi: 10.1086/302385. Am J Hum Genet. 1999. PMID: 10205272 Free PMC article.

10

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.

Sander T, Schulz H, Vieira-Saeker AM, Bianchi A, Sailer U, Bauer G, Scaramelli A, Wienker TF, Saar K, Reis A, Janz D, Epplen JT, Riess O. Sander T, et al. Among authors: reis a. Am J Med Genet. 1999 Apr 16;88(2):182-7. Am J Med Genet. 1999. PMID: 10206240

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