Saar K - 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: saar k. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

2

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: saar k. Am J Hum Genet. 1998 Apr;62(4):884-9. doi: 10.1086/301793. Am J Hum Genet. 1998. PMID: 9529351 Free PMC article.

3

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: saar k. Clin Genet. 1997 May;51(5):309-13. doi: 10.1111/j.1399-0004.1997.tb02479.x. Clin Genet. 1997. PMID: 9212178

4

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. Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8. doi: 10.1038/sj.ejhg.5200241. Eur J Hum Genet. 1998. PMID: 9801875

5

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. Sander T, et al. Among authors: saar k. Hum Mol Genet. 2000 Jun 12;9(10):1465-72. doi: 10.1093/hmg/9.10.1465. Hum Mol Genet. 2000. PMID: 10888596

6

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: saar k. Am J Hum Genet. 1999 May;64(5):1400-5. doi: 10.1086/302385. Am J Hum Genet. 1999. PMID: 10205272 Free PMC article.

7

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: saar k. Am J Med Genet. 1999 Apr 16;88(2):182-7. Am J Med Genet. 1999. PMID: 10206240

8

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

Bayoumi R, Saar K, Lee YA, Nürnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI. Bayoumi R, et al. Among authors: saar k. J Med Genet. 2001 Jun;38(6):369-73. doi: 10.1136/jmg.38.6.369. J Med Genet. 2001. PMID: 11389160 Free PMC article.

9

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R. Saar K, et al. Am J Hum Genet. 1999 Dec;65(6):1666-71. doi: 10.1086/302655. Am J Hum Genet. 1999. PMID: 10577920 Free PMC article.

10

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.

Stöber G, Saar K, Rüschendorf F, Meyer J, Nürnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H. Stöber G, et al. Among authors: saar k. Am J Hum Genet. 2000 Nov;67(5):1201-7. doi: 10.1016/S0002-9297(07)62950-4. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001582 Free PMC article.

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