Search Results - "Cantalapiedra, D"

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease by Riveiro-Alvarez, R, Aguirre-Lamban, J, Lopez-Martinez, M Angel, Trujillo-Tiebas, M Jose, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Ramos, C, Ayuso, C

“…To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in…”
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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study by Bustamante-Aragones, A., Trujillo-Tiebas, M. J., Gallego-Merlo, J., Rodriguez de Alba, M., Gonzalez-Gonzalez, C., Cantalapiedra, D., Ayuso, C., Ramos, C.

“…Background and purpose:  The presence of cell‐free fetal DNA in maternal plasma could allow performing a non‐invasive prenatal diagnosis of Huntington disease…”
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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants by Aguirre-Lamban, J, Riveiro-Alvarez, R, Maia-Lopes, S, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ramos, C, Ayuso, C

“…Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone-rod dystrophy (arCRD) and…”
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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis by Vallespin, E, Avila-Fernandez, A, Almoguera, B, Velez-Monsalve, C, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis by Vallespin, Elena, Avila-Fernandez, A, Velez-Monsalve, C, Almoguera, B, Martinez-Garcia, M, Gomez-Dominguez, B, Gonzalez-Roubaud, C, Cantalapiedra, D, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA) by Vallespin, Elena, Avila-Fernandez, A, Almoguera, B, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C

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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease by Riveiro-Alvarez, R, Valverde, D, Lorda-Sanchez, I, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Ramos, C, Ayuso, C

“…Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought…”
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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Garcia-Hoyos, M, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: NDP. Disease: Norrie disease by Riveiro-Alvarez, Rosa, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Gimenez, A, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis by Auz-Alexandre, Carmen-Laura, Vallespin, E, Aguirre-Lamban, J, Cantalapiedra, D, Avila-Fernandez, A, Villaverde-Montero, C, Ainse, E, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy by Aguirre-Lambán, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile by Riveiro-Alvarez, Rosa, Gimenez, A, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Garcia-Hoyos, M, Cantalapiedra, D, Martinez-Garcia, M, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Avila-Fernandez, A, Vallespin, E, Villaverde-Montero, C, Gomez-Dominguez, B, Auz-Alexandre, C L, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile by Riveiro-Alvarez, Rosa, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Gimenez-Pardo, A, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy by Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Trujillo-Tiebas, M J, Villaverde-Montero, C, Ayuso, C

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Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy by Villaverde, Cristina, Trujillo-Tiebas, M J, Gallego-Merlo, J, Vallespin, E, Cantalapiedra, D, Riveiro-Alvarez, R, Carballo, M, Ayuso, C

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Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa by Avila-Fernandez, A, Vallespin, E, Cantalapiedra, D, Riveiro-Alvarez, R, Gimenez, A, Trujillo-Tiebas, M J, Ayuso, C

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