Puig S - Search Results

1

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, Estivill X, Lázaro C. Serra E, et al. Among authors: puig s. Hum Genet. 2001 May;108(5):416-29. doi: 10.1007/s004390100514. Hum Genet. 2001. PMID: 11409870

2

Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene.

Puig S, Ruiz A, Lázaro C, Castel T, Lynch M, Palou J, Vilalta A, Weissenbach J, Mascaro JM, Estivill X. Puig S, et al. Am J Hum Genet. 1995 Aug;57(2):395-402. Am J Hum Genet. 1995. PMID: 7668266 Free PMC article.

3

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C. Serra E, et al. Among authors: puig s. Am J Hum Genet. 1997 Sep;61(3):512-9. doi: 10.1086/515504. Am J Hum Genet. 1997. PMID: 9326316 Free PMC article.

4

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.

Puig S, Ruiz A, Castel T, Volpini V, Malvehy J, Cardellach F, Lynch M, Mascaro JM, Estivill X. Puig S, et al. Hum Genet. 1997 Dec;101(3):359-64. doi: 10.1007/s004390050642. Hum Genet. 1997. PMID: 9439668

5

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma.

Ruiz A, Puig S, Lynch M, Castel T, Estivill X. Ruiz A, et al. Among authors: puig s. Int J Cancer. 1998 May 4;76(3):312-6. doi: 10.1002/(sici)1097-0215(19980504)76:3<312::aid-ijc4>3.0.co;2-y. Int J Cancer. 1998. PMID: 9579564 Free article.

6

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.

Ruiz A, Nadal M, Puig S, Estivill X. Ruiz A, et al. Among authors: puig s. Gene. 1999 Oct 18;239(1):155-61. doi: 10.1016/s0378-1119(99)00354-6. Gene. 1999. PMID: 10571045

7

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

Ruiz A, Puig S, Malvehy J, Lázaro C, Lynch M, Gimenez-Arnau AM, Puig L, Sánchez-Conejo J, Estivill X, Castel T. Ruiz A, et al. Among authors: puig s, puig l. J Med Genet. 1999 Jun;36(6):490-3. J Med Genet. 1999. PMID: 10874641 Free PMC article.

8

Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases. Hospital Clinic Malignant Melanoma Group, University of Barcelona.

Puig S, Castro J, Ventura PJ, Ruiz A, Ascaso C, Malvehy J, Estivill X, Mascaro JM, Lecha M, Castel T. Puig S, et al. Melanoma Res. 2000 Jun;10(3):231-6. Melanoma Res. 2000. PMID: 10890376

9

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

Lecha M, Badenas C, Puig S, Orfila J, Milà M, To-Figueras J, Muñoz C, Mercader P, Herrero C. Lecha M, et al. Among authors: puig s. J Eur Acad Dermatol Venereol. 2006 Sep;20(8):974-9. doi: 10.1111/j.1468-3083.2006.01705.x. J Eur Acad Dermatol Venereol. 2006. PMID: 16922948

10

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P; GenoMEL; MelaNostrum consortia. Dalmasso B, et al. Among authors: puig s. Genet Med. 2021 Nov;23(11):2087-2095. doi: 10.1038/s41436-021-01240-8. Epub 2021 Jul 14. Genet Med. 2021. PMID: 34262154 Free PMC article.

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