Alonso LG - Search Results

1

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Among authors: alonso n, alonso lg. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

2

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Among authors: alonso n, alonso lg. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

3

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Among authors: alonso lg. Cleft Palate Craniofac J. 2006 Mar;43(2):148-51. doi: 10.1597/04-206.1. Cleft Palate Craniofac J. 2006. PMID: 16526918

4

Clinical spectrum of fibroblast growth factor receptor mutations.

Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Passos-Bueno MR, et al. Among authors: alonso lg. Hum Mutat. 1999;14(2):115-25. doi: 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 1999. PMID: 10425034

5

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR. Oliveira NA, et al. Among authors: alonso lg. Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):629-33. doi: 10.1002/bdra.20287. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16955501

6

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. Iughetti P, et al. Among authors: alonso n, alonso lg. Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146471

7

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.

Passos-Bueno MR, Armelin LM, Alonso LG, Neustein I, Sertié AL, Abe K, Pavanello Rde C, Elkis LC, Koiffmann CP. Passos-Bueno MR, et al. Among authors: alonso lg. Am J Med Genet. 2002 Nov 22;113(2):200-6. doi: 10.1002/ajmg.10752. Am J Med Genet. 2002. PMID: 12407713

8

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Among authors: alonso lg. Clin Genet. 2005 Jun;67(6):503-10. doi: 10.1111/j.1399-0004.2005.00438.x. Clin Genet. 2005. PMID: 15857417

9

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. Among authors: alonso lg. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720

10

Tetraploid/diploid mosaicism: case report and review of the literature.

Alonso L, Melaragno I, Bortolai A, Takeno S, Brunoni D. Alonso L, et al. Ann Genet. 2002 Oct-Dec;45(4):177-80. doi: 10.1016/s0003-3995(02)01137-1. Ann Genet. 2002. PMID: 12668163

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