The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
Open accessAbstract
Objective: To test the accuracy of bilateral language mapping using a standard clinical magnetic resonance (MR) imaging device during word generation. Design. A study of normal volunteers. Setting. Volunteers from the Washington, DC, area. Participants. Nine normal, right-handed, native English speakers (four women, five men, mean age 31 years). Interventions. During four MR acquisition periods, subjects would alternately rest and silently generate words. Sagittal MR images covered the middle and inferior frontal gyri, insulae, and part of the temporal and parietal lobes bilaterally. Main outcome measures. (1) Anatomic maps of task-related signal changes obtained by comparing, in each voxel, the signal during word generation and rest periods, and (2) analysis of the time course of the signal. Results. Maximum responses were in the left hemisphere, mainly in the frontal lobe (Broca9s area, premotor cortex, and dorsolateral prefrontal cortex) but also in posterior regions such as Wernicke9s area. In agreement with previous studies, some degree of task-related changes was present in a subset of the corresponding regions in the right hemisphere. Conclusion. Despite certain limitations, it is possible, using widely available MR equipment, to obtain results consistent with previous studies. The technique may have important implications for assessment of cognitive functions in patients with neurologic disorders in a clinical environment. NEUROLOGY 1995;45: 1821-1827
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Cites
A comprehensive genetic map of the human genome based on 5,264 microsatellites
Dib, C., Fauré, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Kazan, J., Seboun, E., et al. (1996) · Nature · doi:10.1038/380152a0 · Cited by 2,928
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., & Leigh, I. M. (1997) · Nature · doi:10.1038/387080a0 · Cited by 1,470
Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome
Willecke, K., Eiberger, J., Degen, J., Eckardt, D., Romualdi, A., Güldenagel, M., Deutsch, U., & Söhl, G. (2002) · Biological Chemistry · doi:10.1515/bc.2002.076 · Cited by 1,158
Deininger, P. L., & Batzer, M. A. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2864 · Cited by 909
A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Álvarez, A., Tellería, D., Menéndez, I., & Moreno, F. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa012052 · Cited by 585
Self-citationMutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
Grifa, A., Wagner, C. A., D'Ambrosio, L., Melchionda, S., Bernardi, F., Lopez-Bigas, N., Rabionet, R., Arbones, M., Monica, M. D., Estivill, X., et al. (1999) · Nature Genetics · doi:10.1038/12612 · Cited by 396
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
Kenneson, A., Van Naarden Braun, K., & Boyle, C. (2002) · Genetics in Medicine · doi:10.1097/00125817-200207000-00004 · Cited by 395
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
Teubner, B. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg001 · Cited by 342
Molecular Genetics of Hearing Loss
Petit, C., Levilliers, J., & Hardelin, J.-P. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.091224 · Cited by 322
Self-citationExpression of the gap-junction connexins 26 and 30 in the rat cochlea
Lautermann, J., ten Cate, W.-J. F., Altenhoff, P., Grümmer, R., Traub, O., Frank, H.-G., Jahnke, K., & Winterhager, E. (1998) · Cell and Tissue Research · doi:10.1007/s004410051192 · Cited by 275
Cited by
Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62347 · Cited by 20
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Metadata
- Authors
- del Castillo, F. J., Rodríguez-Ballesteros, M., Álvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A., Azaiez, H., Brownstein, Z., Avenarius, M. R., Marlin, S., Pandya, A., Shahin, H., Siemering, K. R., Weil, D., Wuyts, W., Aguirre, L. A., Martín, Y., Moreno-Pelayo, M. A., Villamar, M., Avraham, K. B., Dahl, H.-H. M., Kanaan, M., Nance, W. E., Petit, C., Smith, R. J. H., Van Camp, G., Sartorato, E. L., Murgia, A., Moreno, F., & del Castillo, I.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-07
- Volume
- 42
- Issue
- 7
- Pages
- 588-594
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2119744081
- Cited by
- 339
- References
- 15
- FWCI
- 8.05
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. https://app.cochat.ai/papers/10.1136/jmg.2004.028324
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- del Castillo, F. J., Rodríguez-Ballesteros, M., Álvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A., Azaiez, H., Brownstein, Z., Avenarius, M. R., Marlin, S., Pandya, A., Shahin, H., Siemering, K. R., Weil, D., Wuyts, W., Aguirre, L. A., Martín, Y., Moreno-Pelayo, M. A., Villamar, M., . . . del Castillo, I. (2005). A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2004.028324
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
