Figuera LE - Search Results

1

Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.

Valdez-Gaxiola CA, Maciel-Cruz EJ, Hernández-Peña R, Dumois-Petersen S, Rosales-Leycegui F, Gallegos-Arreola MP, Moreno-Ortiz JM, Figuera LE. Valdez-Gaxiola CA, et al. Among authors: figuera le. Int J Mol Sci. 2023 Oct 28;24(21):15687. doi: 10.3390/ijms242115687. Int J Mol Sci. 2023. PMID: 37958671 Free PMC article.

2

Ambral syndrome and congenital generalized hypertrichosis.

Figuera LE, Cantu JM. Figuera LE, et al. Clin Genet. 1994 Nov;46(5):384. doi: 10.1111/j.1399-0004.1994.tb04186.x. Clin Genet. 1994. PMID: 7889653 No abstract available.

3

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel PI. Figuera LE, et al. Nat Genet. 1995 Jun;10(2):202-7. doi: 10.1038/ng0695-202. Nat Genet. 1995. PMID: 7663516

4

Therapeutic goals in the treatment of Fabry disease.

Mehta A, West ML, Pintos-Morell G, Reisin R, Nicholls K, Figuera LE, Parini R, Carvalho LR, Kampmann C, Pastores GM, Lidove O. Mehta A, et al. Among authors: figuera le. Genet Med. 2010 Nov;12(11):713-20. doi: 10.1097/GIM.0b013e3181f6e676. Genet Med. 2010. PMID: 20975569 Free article.

5

Geleophysic dysplasia vs. Myhre syndrome.

Figuera LE. Figuera LE. Am J Med Genet. 1996 Nov 11;65(4):361-2. doi: 10.1002/(SICI)1096-8628(19961111)65:4<361::AID-AJMG25>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923952 No abstract available.

6

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K. Struk B, et al. Among authors: figuera le. J Mol Med (Berl). 2000;78(5):282-6. doi: 10.1007/s001090000114. J Mol Med (Berl). 2000. PMID: 10954200

7

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.

Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM. Figuera LE, et al. Am J Med Genet. 1994 Jul 1;51(3):213-5. doi: 10.1002/ajmg.1320510307. Am J Med Genet. 1994. PMID: 8074146

8

Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients.

Gallegos-Arreola MP, González-Noriega A, Zúñiga-González GM, Flores-Martínez SE, Morán Moguel MC, Figuera LE, Sánchez-Corona J. Gallegos-Arreola MP, et al. Among authors: figuera le. Arch Med Res. 1997 Spring;28(1):91-4. Arch Med Res. 1997. PMID: 9078594

9

Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I.

Gallegos-Arreola M, Rivas-Solis F, Flores-Martínez S, Zúñiga-González G, Sandoval-Ramírez L, Cantú-Garza JM, Ranaji C, Figuera L, Morán-Moguel MC, Sánchez Corona J. Gallegos-Arreola M, et al. Arch Med Res. 1999 Sep-Oct;30(5):375-9. doi: 10.1016/s0188-0128(99)00049-4. Arch Med Res. 1999. PMID: 10596456

10

Allele frequency distributions of six Amp-FLPS (D1S80, APO-B, VWA, TH01, CSF1PO and HPRTB) in a Mexican population.

Rangel-Villalobos H, Rivas F, Torres-Rodríguez M, Jaloma-Cruz AR, Gallegos-Arreola MP, López-Satow J, Cantú JM, Figuera LE. Rangel-Villalobos H, et al. Among authors: figuera le. Forensic Sci Int. 1999 Nov 1;105(2):125-9. doi: 10.1016/s0379-0738(99)00129-2. Forensic Sci Int. 1999. PMID: 10605081

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