Pujana MA - Search Results

1

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Estivill X, et al. Among authors: pujana ma. Hum Mol Genet. 2002 Aug 15;11(17):1987-95. doi: 10.1093/hmg/11.17.1987. Hum Mol Genet. 2002. PMID: 12165560

2

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Scherer SW, et al. Among authors: pujana ma. Science. 2003 May 2;300(5620):767-72. doi: 10.1126/science.1083423. Epub 2003 Apr 10. Science. 2003. PMID: 12690205 Free PMC article.

3

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.

Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Armengol L, et al. Among authors: pujana ma. Hum Mol Genet. 2003 Sep 1;12(17):2201-8. doi: 10.1093/hmg/ddg223. Epub 2003 Jul 8. Hum Mol Genet. 2003. PMID: 12915466

4

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Pujana MA, Nadal M, Guitart M, Armengol L, Gratacòs M, Estivill X. Pujana MA, et al. Eur J Hum Genet. 2002 Jan;10(1):26-35. doi: 10.1038/sj.ejhg.5200760. Eur J Hum Genet. 2002. PMID: 11896453

5

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.

Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. Gimelli G, et al. Among authors: pujana ma. Hum Mol Genet. 2003 Apr 15;12(8):849-58. doi: 10.1093/hmg/ddg101. Hum Mol Genet. 2003. PMID: 12668608

6

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.

Pujana MA, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Volpini V, Estivill X. Pujana MA, et al. Hum Genet. 1997 Nov;101(1):18-21. doi: 10.1007/s004390050578. Hum Genet. 1997. PMID: 9385362

7

Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer.

Ruiz A, Pujana MA, Estivill X. Ruiz A, et al. Among authors: pujana ma. Biochim Biophys Acta. 2000 Dec 15;1517(1):128-34. doi: 10.1016/s0167-4781(00)00272-4. Biochim Biophys Acta. 2000. PMID: 11118625

8

Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients.

Pujana MA, Martorell L, Volpini V, Valero J, Labad A, Vilella E, Estivill X. Pujana MA, et al. Hum Genet. 1997 Jun;99(6):772-5. doi: 10.1007/s004390050446. Hum Genet. 1997. PMID: 9187671

9

Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2).

Pujana MA, Volpini V, Estivill X. Pujana MA, et al. Nucleic Acids Res. 1996 Sep 15;24(18):3651-2. doi: 10.1093/nar/24.18.3651. Nucleic Acids Res. 1996. PMID: 8836199 Free PMC article.

10

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V. Pujana MA, et al. Hum Genet. 1999 Jun;104(6):516-22. doi: 10.1007/s004390050997. Hum Genet. 1999. PMID: 10453742

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