Sainz J - Search Results

1

Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations.

Baser ME, Mautner VF, Ragge NK, Nechiporuk A, Riccardi VM, Klein J, Sainz J, Pulst SM. Baser ME, et al. Among authors: sainz j. Neurology. 1996 Nov;47(5):1269-77. doi: 10.1212/wnl.47.5.1269. Neurology. 1996. PMID: 8909442

2

Ocular abnormalities in neurofibromatosis 2.

Ragge NK, Baser ME, Klein J, Nechiporuk A, Sainz J, Pulst SM, Riccardi VM. Ragge NK, et al. Among authors: sainz j. Am J Ophthalmol. 1995 Nov;120(5):634-41. doi: 10.1016/s0002-9394(14)72210-x. Am J Ophthalmol. 1995. PMID: 7485365

3

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. Sainz J, et al. Hum Mol Genet. 1994 Jun;3(6):885-91. doi: 10.1093/hmg/3.6.885. Hum Mol Genet. 1994. PMID: 7951231

4

Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas.

Sainz J, Figueroa K, Baser ME, Pulst SM. Sainz J, et al. Hum Genet. 1996 Jan;97(1):121-3. doi: 10.1007/BF00218846. Hum Genet. 1996. PMID: 8557252

5

Loss of alleles in vestibular schwannomas: use of microsatellite markers on chromosome 22.

Sainz J, Baser ME, Ragge NK, Nelson RA, Pulst SM. Sainz J, et al. Arch Otolaryngol Head Neck Surg. 1993 Dec;119(12):1285-8. doi: 10.1001/archotol.1993.01880240015003. Arch Otolaryngol Head Neck Surg. 1993. PMID: 17431981

6

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons.

Sainz J, Figueroa K, Baser ME, Mautner VF, Pulst SM. Sainz J, et al. Hum Mol Genet. 1995 Jan;4(1):137-9. doi: 10.1093/hmg/4.1.137. Hum Mol Genet. 1995. PMID: 7711726 No abstract available.

7

CA-repeat polymorphism at the D22S430 locus adjacent to NF2.

Sainz J, Nechiporuk A, Kim UJ, Simon MI, Pulst SM. Sainz J, et al. Hum Mol Genet. 1993 Dec;2(12):2203. doi: 10.1093/hmg/2.12.2203. Hum Mol Genet. 1993. PMID: 8111404 No abstract available.

8

Dinucleotide repeat polymorphism at the D22S351 locus.

Sainz J, Rasmussen M, Nechiporuk A, Vissing H, Cheng X, Korenberg JR, Pulst SM. Sainz J, et al. Hum Mol Genet. 1993 Oct;2(10):1749. doi: 10.1093/hmg/2.10.1749. Hum Mol Genet. 1993. PMID: 8268946 No abstract available.

9

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV. Minassian BA, et al. Among authors: sainz j. Ann Neurol. 1999 Feb;45(2):262-5. doi: 10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9. Ann Neurol. 1999. PMID: 9989632

10

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

Delgado-Escueta AV, Medina MT, Serratosa JM, Castroviejo IP, Gee MN, Weissbecker K, Westling BW, Fong CY, Alonso ME, Cordova S, Shah P, Khan S, Sainz J, Rubio-Donnadieu F, Sparkes RS. Delgado-Escueta AV, et al. Among authors: sainz j. Adv Neurol. 1999;79:351-74. Adv Neurol. 1999. PMID: 10514826

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