Search Results - "TEJADA, M. I"

Clinical implication of FMR1 intermediate alleles in a Spanish population by Alvarez‐Mora, M.I., Madrigal, I., Martinez, F., Tejada, M.‐I., Izquierdo‐Alvarez, S., Sanchez‐Villar de Saz, P., Caro‐Llopis, A., Villate, O., Rodríguez‐Santiago, B., Pérez Jurado, L.A., Rodriguez‐Revenga, L., Milà, M.

“…FMR1 premutation carriers (55‐200 CGGs) are at risk of developing Fragile X‐associated primary ovarian insufficiency as well as Fragile X‐associated…”
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also…”
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Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing by Del Orbe Barreto, R., Arrizabalaga, B., De la Hoz, A. B., García-Orad, Á., Tejada, M. I., Garcia-Ruiz, J. C., Fidalgo, T., Bento, C., Manco, L., Ribeiro, M. L.

“…Summary Introduction Congenital haemolytic anaemia (CHA) refers to a group of genetically heterogeneous disorders, mainly caused by changes in genes encoding…”
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Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the basque country with respect to the spanish population : implications for genetic counselling by BERISTAIN, E, MARINEZ-BOUZAS, C, GOROSTIAGA, J, DE PABLO, J. L, MENDIZABAL, J. L, TEJADA, M. I, GUERRA, I, VIGUERA, N, MORENO, J, IBANEZ, E, DIEZ, J, RODRIGUEZ, F, MALLABIABARRENA, G, LUJAN, S

“…The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations. Two hundred and…”
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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin by Infante, M, Durán, M, Acedo, A, Pérez-Cabornero, L, Sanz, DJ, García-González, M, Beristain, E, Esteban-Cardeñosa, E, De La Hoya, M, Teulé, A, Vega, A, Tejada, M-I, Lastra, E, Miner, C, Velasco, EA

“…Infante M, Durán M, Acedo A, Pérez‐Cabornero L, Sanz DJ, García‐González M, Beristain E, Esteban‐Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada M‐I, Lastra…”
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Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation by Tejada, M-I, Peñagarikano, O, Rodriguez-Revenga, L, Martinez-Bouzas, C, García, B, Bádenas, C, Guitart, M, Minguez, M, García-Alegría, E, Sanz-Parra, A, Beristain, E, Milá, M

“…Rett syndrome (RTT) is an X‐linked progressive encephalopathy. Mutations in the MECP2 (methyl‐CpG‐binding protein) gene have been found to cause RTT. In the…”
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Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study by Beristain, E, Martínez-Bouzas, C, Mallabiabarrena, G, Tejada, MI

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation by Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L

“…Abstract Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct…”
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LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not by Beristain, E., Guerra, I., Vidaurrazaga, N., Burgos-Bretones, J., Tejada, M. I.

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Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country by Alvarez, A I, Arostegui, E, Martin, R, Duran, M, Onaindia, M L, Molina, M, Tejada, M I

“…Retinitis pigmentosa (RP) is a degenerative disorder affecting the outer segment of the retina and leading to night blindness and progressive visual field…”
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Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome by Tejada, M I, Mornet, E, Tizzano, E, Molina, M, Baiget, M, Boue, A

“…A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was…”
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X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation by Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, J A, Tejada, Mi, Pérez-Jurado, L A, Estivill, X, Milà, M

“…Aproximately 5-10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array…”
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Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs by Tejada, M I, Mendoza, R, Corcóstegui, B, Benito, J A

“…To determine the frequency of the anomalies from the cytogenetic point of view in the oocytes remaining from our in vitro fertilization (IVF) program. Two…”
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A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome) by Tejada, M I, Uribarren, A, Briones, P, Vilaseca, M A

“…A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of…”
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Deletion of chromosome 4: 46,XY, del(4) (q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer by Tejada, M I, Mendoza, R, Carbonero, K, Lizarraga, M A, Escudero, F, Benito, J A

“…It seems that assisted reproduction technology does not increase the rate of chromosome abnormalities, and up to now, a few cases have been reported. The case…”
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Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects by Tejada, M I

“…Fragile X syndrome is the most common cause of hereditary mental retardation. Since the molecular mechanism causing it (anomalous expansion of the CGG triplet…”
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Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia by SORIA, José Manuel, BAIGET, Montserrat, CASTANO, Luis, TEJADA, Maria Isabel, PEREZ-NANCLARES, Guimar, FONTCUBERTA, Jordi

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf‐Greulich, B., Tejada, M.‐I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum‐Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez‐Bouzas, C., Piton, A., Rouleau, G., Clayton‐Smith, J., Kleefstra, T., Bisgaard, A.‐M., Tümer, Z.

“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome ( RTT ). In females, the phenotype can…”
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Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country by Alvarez, A I, Arostegui, E, Martin, R, Molina, M, Duran, M, Tejada, M I

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Factors associated with premature chromosome condensation (PCC) following in vitro fertilization by Tejada, M I, Mendoza, M R, Corcóstegui, B, Benito, J A

“…From January 1989 to July 1990 a total of 562 oocytes was fixed in our In Vitro Fertilization Program, while cytogenetic data were collected in the case of…”
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