Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
Fernández, L, Lapunzina, P, Arjona, D, López Pajares, I, García-Guereta, L, Elorza, D, Burgueros, M, De Torres, ML, Mori, MA, Palomares, M, García-Alix, A, Delicado, A
Published in Clinical genetics (01.10.2005)
Published in Clinical genetics (01.10.2005)
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MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
Palomares, M, Delicado, A, Lapunzina, P, Arjona, D, Amiñoso, C, Arcas, J, Martinez Bermejo, A, Fernández, L, López Pajares, I
Published in Clinical genetics (01.03.2006)
Published in Clinical genetics (01.03.2006)
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Euchromatic variant 16p+. Implications in prenatal diagnosis
López Pajares, I., Villa, O., Salido, M., Mori, M. A., Gonzalez, A., Lapunzina, P., De Torres, M. L., Vallcorba, I., Palomares, M., Fernández, L., Delicado, A.
Published in Prenatal diagnosis (01.06.2006)
Published in Prenatal diagnosis (01.06.2006)
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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
Karadima, G, Bugge, M, Nicolaidis, P, Vassilopoulos, D, Avramopoulos, D, Grigoriadou, M, Albrecht, B, Passarge, E, Annerén, G, Blennow, E, Clausen, N, Galla-Voumvouraki, A, Tsezou, A, Kitsiou-Tzeli, S, Hahnemann, J M, Hertz, J M, Houge, G, Kuklík, M, Macek, M, Lacombe, D, Miller, K, Moncla, A, López Pajares, I, Patsalis, P C, Petersen, M B
Published in European journal of human genetics : EJHG (01.09.1998)
Published in European journal of human genetics : EJHG (01.09.1998)
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Short Report: MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
Palomares, M, Delicado, A, Lapunzina, P, Arjona, D, Amiñoso, C, Arcas, J, A Martinez Bermejo, Fernández, L, I López Pajares
Published in Clinical genetics (01.03.2006)
Published in Clinical genetics (01.03.2006)
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Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes
López‐Pajares, I., Delicado, A., Lapunzina, P., Mori, M.A., de Torres, M.L., Aso, S., Garcia Sanchez, P.
Published in American journal of medical genetics. Part A (01.05.2003)
Published in American journal of medical genetics. Part A (01.05.2003)
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Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR
Valero, Rebeca, Marfany, Gemma, Gil-Benso, Rosario, Ibáñez, Maria de los Angeles, López-Pajares, Isidora, Prieto, Félix, Rullan, Gaspar, Sarret, Enric, Gonzàlez-Duarte, Roser
Published in Journal of medical genetics (01.09.1999)
Published in Journal of medical genetics (01.09.1999)
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Tetraploidy in a liveborn infant
López Pajares, I, Delicado, A, Diaz de Bustamante, A, Pellicer, A, Pinel, I, Pardo, M, Martin, M
Published in Journal of medical genetics (01.12.1990)
Published in Journal of medical genetics (01.12.1990)
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Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
Wirth, J, Nothwang, H-G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, N, Bugge, M, Ropers, H-H, Haaf, T
Published in Journal of medical genetics (01.04.1999)
Published in Journal of medical genetics (01.04.1999)
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De novo t(5p;21q) in a patient previously diagnosed as monosomy 21
López-Pajares, I, Martin-Ancel, A, Cabello, P, Delicado, A, Garcia-Alix, A, San Roman, C
Published in Clinical genetics (01.02.1993)
Published in Clinical genetics (01.02.1993)
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Identification of human candidate genes for male infertility by digital differential display
Olesen, Christian, Hansen, Claus, Bendsen, Eske, Byskov, Anne Grete, Schwinger, Eberhard, Lopez-Pajares, Isidora, Jensen, Peter K.A., Kristoffersson, Ulf, Schubert, Regine, Assche, Elvira Van, Wahlstroem, Jan, Lespinasse, James, Tommerup, Niels
Published in Molecular human reproduction (01.01.2001)
Published in Molecular human reproduction (01.01.2001)
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Fragile X syndrome with extra microchromosome
López-Pajares, I, Delicado, A, Pascual-Castroviejo, I, López-Martin, V, Moreno, F, Garcia-Marcos, J A
Published in Clinical genetics (01.04.1994)
Published in Clinical genetics (01.04.1994)
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Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child
Lorda-Sanchez, I, Lopez-Pajares, I, Roche, M C, Sanz, R, Rodriguez de Alba, M, Gonzalez-Gonzalez, M C, Ibañez, A, Ramos, C, Ayuso, C
Published in American journal of medical genetics (11.12.2000)
Published in American journal of medical genetics (11.12.2000)
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Short Report: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
Fernández, L, Lapunzina, P, Arjona, D, I López Pajares, García-Guereta, L, Elorza, D, Burgueros, M, ML De Torres, Mori, MA, Palomares, M, García-Alix, A, Delicado, A
Published in Clinical genetics (01.10.2005)
Published in Clinical genetics (01.10.2005)
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Holt-Oram syndrome: characterization of a novel mutation
Fernández García-Moya, L, Lapunzina Badía, P, Delicado Navarro, A, Sharif, A, Cross, G, Mori Alvarez, Ma A, de Torres Perezhidalgo, M L, Palomares Bralo, M, García Sánchez, P, García-Guereta Silva, L, López Pajares, I
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2006)
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Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2006)
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Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling
Lapunzina, P, Delicado, A, de Torres, M L, Mor, M A, Pérez-Pacheco, R F, Lópes, Pajares I
Published in The journal of maternal-fetal & neonatal medicine (2002)
Published in The journal of maternal-fetal & neonatal medicine (2002)
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Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome
Diaz de Bustamante, A., Delicado, A., Garcia de Miguel, P., Darnaude, M.T., de Torres, M.L., Zumel, R.M., Pajares, I.Lopez
Published in Cancer genetics and cytogenetics (01.03.1990)
Published in Cancer genetics and cytogenetics (01.03.1990)
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An excess of chromosome 1 breakpoints in male infertility
BACHE, Ihen, VAN ASSCHE, Elvire, KALSCHEUER, Vera, LIEBAERS, Inge, BONDUELLE, Maryse, TOURNAYE, Herman, AYUSO, Carmen, BARBI, Gotthold, BLENNOW, Elisabeth, BOURROUILLOU, Georges, BRONDUM-NIELSEN, Karen, BRUUN-PETERSEN, Gert, CINGOZ, Sultan, CROQUETTE, Marie-Francoise, DAHOUN, Sophie, DALLAPICCOLA, Bruno, DAVISON, Val, DELOBEL, Bruno, DUBA, Hans-Christoph, DUPREZ, Laurence, FERGUSON-SMITH, Malcolm, FITZPATRICK, David R, GRACE, Elizabeth, BUGGE, Merete, HANSMANN, Ingo, HULTEN, Maj, JENSEN, Peter Ka, JONVEAUX, Philippe, KRISTOFFERSSON, Ulf, LOPEZ-PAJARES, Isidora, MCGOWAN-JORDAN, Jean, MURKEN, Jan, ORERA, Maria, PARKIN, Tony, TÜMER, Zeynep, PASSARGE, Eberhard, RAMOS, Carmen, RASMUSSEN, Kirsten, SCHEMPP, Werner, SCHUBERT, Regine, SCHWINGER, Eberhard, SHABTAI, Fiorella, SMITH, Kim, STALLINGS, Raymond, STEFANOVA, Margarita, HJORTH, Mads, TRANEBJERG, Lisbeth, TURLEAU, Catherine, BIRGER VAN DER HAGEN, Carl, VEKEMANS, Michel, KOKALJ VOKAC, Nadja, WAGNER, Klaus, WAHLSTROEM, Jan, ZELANTE, Leopoldo, TOMMERUP, Niels, LUNDSTEEN, Claes, LESPINASSE, James, WINTHER, Kirsten, NIEBUHR, Anita
Published in European journal of human genetics : EJHG (01.12.2004)
Published in European journal of human genetics : EJHG (01.12.2004)
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