Investigaciones Biomédicas 1994 - 99

1999

- La acalasia en el Síndrome de Down. Investigador principal: Dra. Zarate, del Hospital General de la Valle de Hebrón de Barcelona.

• Zarate N, Mearin, F , Hidalgo A, Malagelada JR. Prospective evaluation of esophageal motor dysfunction in Down’s syndrome. Am J Gaestroenterol, 6 (6): 1718-24, 2001.
• Zarate N, Mearin F, Gil-Vernet JM, Camarasa F, Malagelada JR. Achalasia and Down’s syndrome: coincidental association or something else?. Am J Gaestroenterol, 94 (6): 1718-24, 1999.
• Puigarnau R i Camarasa F. Acalasia esofágica asociada a un síndrome de Down. SD-DS Revista Médica Internacional sobre el Síndrome de Down, 5: 7-9, 1998.
• Zarate N. Intolerancia a la lactosa en un paciente con síndrome de Down. SD-DS Revista Médica Internacional sobre el síndrome de Down, núm.7: 25-27, 1999.
• Carnicer J, Farre C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down syndrome. Eur J Gastroenterol Hepatol, 13 (3): 363-7, 2001.

1999-1994

La Fundación Catalana Síndrome de Down (FCSD) impulsó los 10 trabajos científicos siguientes, de los cuales 3 eran subproyectos (aprobados por el Comité Científico Asesor Externo que fue designado por la Fundación), financiados con las aportaciones económicas obtenidas gracias al Maratón de TV3 del año 1993:

- 1. “Estudios de la correlación genotipo-fenotipo en el SD y análisis genético de la región 21q11.2”. A cargo de la Dra. Roser González-Duarte, del Grupo Genética Molecular del Departamento de Genética de la Universidad de Barcelona.

• Cervantes S, Saura CA, Pomares E, González-Duarte R, Marfany G. Functional implications of the Presenilin Dimerization. Journal of biological chemistry, vol. 279, núm. 35, 36519-36529, 2004.
• Sánchez-Font MF, Bosch-Comas, González-Duarte R, Marfany G. Overexpression of FABPT7 in Down síndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. Nucleic Acids Research, volum 31, núm. 11: 2679-2777, 2003.
• Valero R, Marfany G, Gil R, Ibáñez A, López-Pajares I, Prieto F, Rul.lan G, Sarret E, González-Duarte R. Molecular characterization of partial chromosome 21 aneuploidies by fluorescent PCR. Journal of Medical Genetics 36: 694-699, 1999.
• Valero R, Marfany G, González-Angulo O, González-González G, Puelles L, González-Duarte R. USP25, a new gene encoding a deubiquitinating enzyme is located in the gene-poor region 21q11.2. Genomics 62: 395-405, 1999 -Este gen figura en el mapa del cromosoma 21 recientemente publicado-; Nature 405: 311319, 2000.

- 2. “Investigación genética del SD: creación de un banco de ADN, correlación genotipo-fenotipo, estudio de los mecanismos y susceptibilidad de no-disyunción cromosómica” A cargo de la Dra. F. Ballesta Martínez, del Servicio de Genética del Hospital Clínico y Provincial de Barcelona.

• Ballesta F, Queralt R, Carrió R, Arroyo S, Oliva R. Cytogenetic and molecular analysis in a family with balanced and unbalanced translocation, Genetics Service.
• Ballesta F, Queralt R, Gómez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R. Parental origin and meiotic stage of non-disjuntion in 139 cases of trisomy 21. Ann Génét 42: 11-15, 1999.
• Ballesta F, Queralt R, Ballesta F. El síndrome de Down. Historia y evolución. En: Síndrome de Down. La relación con el otro en la construcción de la identidad. Resumen de las ponencias de las V Jornadas Internacionales sobre el síndrome de Down, Barcelona: Fundación Catalana Síndrome de Down, 1995, p. 353-364.
• Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Apolipoprotein E e4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neurosci lett, 248, 1-4, 1998.
• Nadal M, Milá M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonokarakis SE, Ballesta F, Estivill X. Yac and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Hum Gene, 98:460-466, 1996.
• Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez F, Ballesta F. Paternal isodisomy 13 in a normal newborn infant after trisomy rescuevidenced by prenatal diagnosis. A J med Genet, 90:291-293, 2000.
• Soler A, Margarit E, Carrió A, Costa D, Queralt R, Ballesta F. Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements. J Med Gene, 36:333-334, 1999.

3. “Origen, mecanismos y detección preconcepcional de la no-disyunción en el SD”

A cargo del Dr. J. Egozcue Cuixart, del Hospital de Sabadell y la Universidad Autónoma de Barcelona. Dividido en 4 subproyectos:

Subproyecto 3.1 "Origen de la no-disyunción del cromosoma 21 en una población con elevada prevalencia de SD".

A cargo de la Dra. Míriam Guitart Feliubadaló, del Consorcio Hospitalario “Parc Taulí” de Sabadell.

• Ballesta F, Queralt R, Gómez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R. Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann.Génet. 42: 11-15, 1999.
• Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F. Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: Increased incidence in cases of paternal origin. Am.J. Hum. Genet. 63: 1067-1072, 1998.
• Egozcue J, Guitart M, Vidal F, Baena N, Blanco J, Gabau E, Català V, Gómez D, Santaló J, Solsona E, Caballín MR. Origen de la no disyunción del cromosoma 21 en una población con elevada prevalencia del síndrome de Down. Revista Síndrome de Down, Vol 13, Supl.: 6, Marzo 1996.
• Egozcue J, Guitart M, Vidal F, Baena N, Blanco J, Gabau E, Català V, Gómez D, Santaló J, Solsona E, Caballín MR. Origen de la no disyunción del cromosoma 21 en una población con elevada prevalencia del síndrome de Down. En: Flórez J, Troncoso MV, Diersen M. Síndrome de Down. Biología, desarrollo y educación. Barcelona: Masson, 1997, p. 35-42.
• Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Apolipoprotein E e4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neuroscience Letters 246: 1-4, 1998.
• Gómez D, Solsona E, Guitart M, Baena N, Gabau E, Egozcue J, Caballín MR. Origin of trisomy 21 in Down syndrome cases from a spanish population registry. Ann.Génet. 43: 23-28, 2000.

Subproyecto 3.2 "Análisis de la frecuencia de no-disyunción del cromosoma 21 en espermatozoides humanos mediante hibridación in situ".

A cargo de la Dra. Francesca Vidal Domínguez, Facultad de Ciencias de la Universidad Autónoma de Barcelona.

• Vidal F, Blanco J y Egozcue J. Detección de aneuploidías en espermatozoides humanos. Progresos en Diagnóstico Prenatal, 7: 472-474, 1995.
• Vidal F, Blanco J, Egozcue J. No-disyunción y estudio de gámetos. SD-DS Revista Médica Internacional sobre el Síndrome de Down, 1: 8, 1997.
• Blanco J, Egozcue J and Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hibridization. Human genetics, 11: 722-726, 1996.
• Blanco J, Egozcue J and Vidal F. Increased Incidence of disomic sperm nuclei in a 47, XYY male assessed by fluorescent in situ hybridization (FISH). Human Genetics, 99: 413-416, 1997.
• Colls P, Blanco J, Martínez-Pasarell O, Egozcue J, Vidal F, Guitart M and Templado C. 2 Chromosome segregation in a man heterrozygous for a pericentric inversión , inv (9), analyzed by using kartyotyping and two-color fluorescence in situ hybridization on sperm nuclei. Human Genetics, 99: 761-765, 1997.
• Blanco J, Colls P, Templado C, Egozcue J, Vidal F. Structural abnormalities and lack of an interchromosomal effect for chromosome 21: a FISH study in spermatozo. Cytogenetics and Cell Genetics 77 (suppl. 1): 10, 1997.
• Blanco J, Egozcue J, Clusellas N, Vidal F. FISH in sperm heads allow the analysis of the chromosome segregation and interchromosomal effects in carriers of structural reorganizations. Results in a translocation carrier t(5;8)(q33;q13). Cytogenetics and Cell Genetics 83: 275-280, 1998.
• Blanco J, Egozcue J, Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Human Reproduction 11: 722-726, 1996.
• Blanco J, Egozcue J, Vidal F. Non-disjunction of chromosome 21 in human spermatozoa: a FISH study in a high risk population. Journal of Assisted Reproduction and Genetics 14 (8): 426, 1997.
• Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F. Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21 in a population with a high prevalence of Downs syndrome. Increased incidence in cases of paternal origin. American Journal of Human Genetics 63: 1067-1072, 1998.
• Blanco J, Rubio MC, Simón C, Egozcue J, Vidal F. A fluorescent in-situ hybridization study of the spermatogenic process and sperm production in a 47,XYY and a 47,XXY/46, XY infertile males: implications for ICSI. Human Reproduction 11: 159-160, 1996.
• Blanco J, Egozcue J and Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hibridization. Human genetics, 11: 722-726, 1996.
• Blanco J, Simón C, Rubio C, Egozcue J, Vidal F. Incidence of disomic sperm nuclei in a 47, XYY male assessed by fluorescent in-situ hybridization (FISH). European Journal of Human Genetics 4 (suppl 1): 40, 1996.
• Egozcue J, Blanco J, Vidal F. Chromosome studies in human sperm nuclei using fluorescence in situ hybridization (FISH). Human Reproduction Update 3: 441-452, 1997.
• Valero R, Bayés M, Francisca Sánchez-Font, González-Ángulo O, Gónzález-Duarte R, Marfany G. Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25. Genomeobiology, 2001.
• Vidal F, Blanco J, Egozcue J. Nondisjunction gamete studies. Cytogenetics and Cell Genetics 77 (suppl. 1): 4, 1997.
• Vidal F, Fugger EF, Blanco J, Keyvanfar K, Català V, Norton M, Hazelrigg WB, Black SH, Levinson G, Egozcue J, Schulman JD. Efficiency of microsort flow cytometry for producing sperm populations enriched in X or Y chromosome haplotypes: a blind trail assessed by double and triple colour FISH. Human Reproduction 13: 308-312, 1998.
• Vidal M, Blanco J, Egozcue J. Detección de aneuploidías en espermatozoides humanos. Progresos en Diagnóstico Prenatal 7: 472-474, 1995.

Subproyecto 3.3 "Estudio del mecanismo de no-disyunción en celulas somáticas mediante hibridación in situ".

A cargo de la Dra. M. Dolors Coll Sandiumenge, Facultad de Ciencias de la Universidad Autónoma de Barcelona.

• Arenas C, Escudero T, Mestres F, Coll MD and Cuadras CM. Cacromos: A computer program to reconstruct the position of chromosomes on the metaphase plate. Hereditas 132: 157-159, 2000.
• Escudero T, Arenas C, Fuster C, Coll MD, Cuadras CM, Egozcue J. Distribution of human chromosomes in lymphocyte metaphases from Down Syndrome patients treated with colcemid: a multidimensional scaling approach. Second European Cytogenetics Conference Cytogenetic and Cell Genetics 85:111 suppl. 1-2, 1999.
• Escudero T, Coll MD, Fuster C, and Egozcue J. Chromatic segregation analysis in native human lymphocyte anaphases using sequential fluorescence in situ hybridization, Cytotechnology 39:m171-175, 2002.
• Sánchez-Font MF, Sebastiá J, Sanfeliu C, Cristófol R, Marfany G, González-Duarte R. Peroxiredixun 2 (PRDX2), an antioxidant enzyme, is undexpressed in Down in Down Syndrome fetal brains. CMLS, Cell, 2003.
• Escudero T, Fuster C, Coll MD, Egozcue J. Chromosome segregation in lymphocytes from a patient with Down syndrome. International Conference on Chromosome 21 and medical research on Down Syndrome. Cytogenetics and Cell Genetics 77:8 suppl.1, 1997.
• Escudero T, Fuster C, Coll MD, Egozcue J. Cytogenetic analysis using simultaneous and sequencial fluorescence in situ hybridization. Cancer Genetics and Cytogenetics 100:111-113, 1998.
• Escudero T, Fuster C, Coll MD, Egozcue J. Sequential FISH analysis. 12th International Chromosome Conference Chromosome Research 3:112-113 suppl.1, 1995.

Subproyecto 3.4 “Diagnóstico preconcepcional del SD en oocitos humanos mediante análisis citogenético molecular del primer corpusculo polar”.

A cargo de la Dra. Joaquima Navarro Ferreté, Facultad de Medicina de la Universidad Autónoma de Barcelona.

• Fuentes JJ, Pucharcós C, Pritchard M, Estivill X. Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA. Human Genetics, 101:346-350, 1997.
• Durban M, Benet J, Pujol A, Egozcue J and Navarro J. Abstract form of Fish anlysis of first polar body and metaphase II chromosome complements from fresh and unfertilised mature human oocytes, (Vienna, july 3-6, 1999), 2nd European Cytogenetic Conference.
• Durban M, Benet J, Egozcue J and Navarro J. Diagnóstico preconcepcional. Revista Iberoamericana de Fertilidad, 16:93-97, 1999.
• Durban M, Benet J, Sarquella J, Laiz A, Marina S, Gely JM, Egozcue J and Navarro J. Abstract form 15th Annual Meeting of the European Society of Human Reproduction & Embriology and Annual Meeting of the Fédération Française pour l’Etude de la Reproduction. Tours France, 27 to 30 june 1999.
• Durban M, Benet J, Sarquella J, Egozcue J and Navarro J. Chromosome studies in first polar bodies from hamsters and human oocytes. Hum Reprod, volum 13, núm.3: 583-587, 1998.
• Durban M, Benet J, Boada M, Fernández E, Calafell JM, Lailla JM, Sáncez-García JM, Pujol A, Egozcue J and Navarro J. PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis, Human Reproduction, volum 7, núm.6: 591-602, 2001.
• Nadal M, Moreno S, Pritchard M, Preciado MA, Estivill X, Ramos-Arroyo MA. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH. Journal of Medical Genetics, 34:50-54, 1997.
• Pujol A, Boiso I, Benet J, Veiga A, Durban M, Campillo M, Egozcue J, Navarro J. Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies. European Journal of Human Genetics, 11: 325-336, 2003.
• Pujol A, Durban M, Benet J, Boiso I, Calafell JM, Egozcue J, Navarro J. Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body. Reproduction, 126: 701-711, 2003.

4. “Análisis genético y molecular del SD: identificación de los genes de la región cromosómica 21q.2-q22.3”.

A cargo del Dr. X. Estivill Pallejà, de la Unidad de Neuropatología del Hospital Príncipes de España de la Ciudad Sanitaria de Bellvitge.

• Alfataj X, Dierssen, C Baamonde, Marti E, Visa J, Guimerà J, Oset M, González JR, Florez J, Fillat C, Estivill X. Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down’s syndrome. Human molecular Genetics 10:1915-1923, 2001.
• Bosch A, Guimerà J, Graw S, Gardiner K, Chumakov I, Patterson D, Estivill X. Integration of 30 CA-Repeat Markers into the Cytogenetic. Genetic and YAC Maps of Human Chromosome 21. European Journal Human Genetics, 4:135-142, 1996.
• Bosch A, Guimerà J, Patterson D, Estivill X. Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1. Human Genetics 95:596-598, 1995.
• Bosch A, Guimerà J, Pereira de Souza, Estivill X. The Eurogem Map of Human Chromosome 21. European Journal of Human Genetics 2:244-245, 1994.
• Bosch A, Guimerà J, Wiemann S, Ansorge W, Patterson D, Estivill X. Identification of two highly polyphormic CA-repeats (D21S224 and D21S1261) on Human Chromosome 21q22.3. Human Genetics 95:367-369(1995).
• Bosch A, Pritchard MA, Guimerà J, Fuentes JJ, Estivill X. Avances en la genética del síndrome de Down. En: Síndrome de Down. La relación con el otro en la construcción de la identidad. Resumen de las ponencias de las V Jornadas Internacionales sobre el síndrome de Down. Barcelona: Fundación Catalana Síndrome de Down, 1995, p. 367-370.
• Bosch A, Wiemann S, Ansorge W, Patterson D, Estivill X. Three CA/GT repeat polymorphisms from loci D21S1414 and D21S1234 on Human Chromosome 21. Human Genetics 93:359-360, 1994.
• Bosch A, Wiemann S, Guimerà J, Ansorge W, Patterson D, Estivill X. Five New microsatellite polymorphisms at the q21 region of human Chromosome 21. Human Genetics 95:119-122, 1995.
• Casas C, Martínez S, Pritchard MA, Fuentes JJ, Nadal M, Guimerà J, Arbones M, Flórez J, Soriano E, Estivill X, Alcántara S. A novel endogenous inhibitor of calcinerium signaling, is expressed in the primitive ventricle of the Heart and during neurogenesis. Mechanisms of Development 101: 289-292, 2001.
• Dierssen M, Fillat C, Crnic L, Arbonès ML, Flórez J, Estivill X. Murine models of Down syndrome. Physiology and Behaviour 73:859-871, 2001.
• Dierssen M, Fillat C, Pritchard M, Arbonés M, Aran JM, Flórez J, Estivill X. Generación y caracterización de modelos del síndrome de Down en el ratón. SD-DS Revista Médica Internacional sobre el síndrome de Down, 7: 18-24, 1999.
• Dierssen M, Martí E, Pucharcos C, Fotaki V, Alfataj X, Casas C, Solans A, Arbonès ML, Fillat C, Estivill X. Functional genomics of Down syndrome: a multidisciplinary approach. Journal Neural Transm Suppl 61:131-148, 2001.
• Dierssen M, Pritchard M, Fillat C, Arbonés M, Aran J, Flórez J, Estivill X. Modelling Down syndrome in mice. In: W. Crusio, T Gerlai (eds). Molecular-Genetic Techniques for Brain and Behavior Research. Amsterdam: Elsevier Science, 13:895-913, 1999.
• Dierssen M, Fotaki V, Martínez de Lagran, Gratacós M, Arbonès ML, Fillat C, Estivill X. Neurobehavioral developement of two mouse lines commonly used in transgenic studies. Pharmacology Biochemistry and Behaviour. Elsevier Science 73: 19-25, 2002.
• Estivill X, Arbonès ML, de la Luna S, Fuentes JJ, Fillat C, Guimerà J, Aran, JM, Pérez-Riba, Pritchard M, Dierssen M. Disección Molecular del cromosoma 21 y modelos murinos del síndrome de Down., Progresos en Diagnóstico Prenatal 11: 162-166, 1999.
• Estivill X. Estudio de los genes del cromosoma 21: un camino hacia el síndrome de Down. Revista Síndrome de Down 13:35-36, 1996.
• Estivill X, Fuentes JJ, Guimerà J, Nadal M, Milà M, Ballesta F, Aledo R, Solans A, Domènech A, Casas K, Pucharcós C, Puig A, Planas AM, Ferrer I, Fillat C, Pérez-Riba M, Dierssen M, Flórez J, Pritchard M. Disección molecular del cromosoma 21 humano y del síndrome de Down. En: J. Flórez (ed). Sindrome de Down: Biología, desarrollo y educación. Barcelona: Masson, 1996, p. 13-23.
• Fuentes JJ, Genescà L, Kingsbury TJ, Cunningham KW, Pérez-Riba M, Estivill X, de la Luna S. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineriun-mediated signalling pathways. Human Molecular Genetics 9: 1681-1690, 2000.
• Fuentes JJ, Pritchard M, Pucharcós C, Planas AM , Bosch A, Ferrer I, Estivill X. A new human gene from the Down Syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Human Molecular Genetics 4:1935-1944, 1995.
• Fuentes JJ, Pritchard M, Estivill C. Genomic Organization, Alternative Splicing, and Expression Patterns of the DSCR1 (Down Syndrome Candidate Region 1) Gene. Genomics 44:358-361, 1997.
• Fuentes JJ, Pritchard M, Pucharcós C, Planas AM, Ferrer I, Fillat C, Pérez-Riba M, Estivill X. Gen DSCR1 en el síndrome de Down: identificación, expresión y modelo anima. En: Flórez (ed). Síndrome de Down: Biología, desarrollo y educación. Barcelona: Masson, 1996, p. 25-33.
• Fuentes JJ, Pucharcós C, Pritchard M, Estivill X. Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA. Human Genetics, 101:346-350, 1997.
• Fuentes JJ, PucharcósC, Pritchard M, Estivill X. Alu Splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.. Human Genetics 101: 346-350, 1997.
• Guimerà J, Casas C, Estivill X, Pritchard M. Human Minibrain Homologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome. Genomics, 57:407-418, 1999.
• Guimerà J, Casas C, Pucharcós C, Solans A , Domènech A, Planas AM, Ashley J, Lovett M, Estivill X, Pritchard MA. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to critical region. Human Molecular Genetics 5: 1305-1310, 1996.
• Guimerà J. Investigación española sobre el síndrome de Down. El gen Minibrain en el cromosoma 21 y el síndrome de Down. Revista Síndrome de Down 15:135-136, 1998.
• Guimerà J, Pritchard M, Nadal M, Estivill X. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. Cytogenetics and Cell Genetics 77:182-184, 1997.
• Guimerà J, Pucharcós C, Domènech A, Casas C, Solans A, Gallardo T, Ashley J, Lovett M, Estivill X, Pritchard M. Cosmid Conting and Transcriptional Map of Three Regions of Human Chromosome 21q22: Identification of 37 Novel Transcripts by Direct Selection. Genomics, 45:59-67, 1997.
• Leder S, Weber Y, Alfataj X, Estivill X, Joost HG, Becker W. Cloning and Characterisation of DYRK1B, A novel member of the DYRCK family of Protein Kinases. Biochemical and Biophisical Research Communications 254: 474-479, 1999.
• Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonakarakis SE, Ballesta F, Estivill X. YAC and cosmid FISH-mapping of an unbalanced chromosome translocation causing partial trisomy 21 and Down Syndrome. Human Genetics, 98:460-466, 1996.
• Nadal M, Moreno S, Pritchard M, Preciado MA, Estivill X, Ramos-Arroyo MA. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH. Journal of Medical Genetics, 34:50-54, 1997.
• Nadal M., Vigo CG, Melaragno MI, Andrade JA, Alonso LG, Brunoni D, Pritchard, Estivill X. Clinical and cytogenetic characterisation of a patient with Down syndrome due to a 21q22.1-qter duplication. Journal of Medical Genetics 38:73-76, 2001.
• Pucharcós C, Casas C, Nadal M, Estivill X, de la Luna S. The human intersectin genes and their spliced variants are differentially expressed. Biochimica et Biophysica Acta 31:1-11, 2001.
• Pucharcós C, Estivill X, de la Luna S. Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. FEBS letters 1-9, 2002.
• Pucharcós C, Fuentes JJ, Casas C, De la Luna S, Alcántara S, Arbonès ML, Soriano E, Estivill X, Pritchard M. Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. European Journal of Human Genetics, 7:704-712, 1999.
• Solans A, Estivill X, de la Luna S. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for the glutamate formiminotransferase deficiency. Cytogenetics and Cell Genetics 88:43-49, 2000.
• Wang SY, Cruts M, Del-Favero J, Zhang Y, Bosch A, Chen HM, Bennet L, Estivill X, Antonarakis S, Van Broeckhoven C. A High resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome research 9: 1059-1073, 1999
• Wang SY, Cruts M, Del-Favero J, Zhang Y, Bosch A, Chen HM, Bennet L, Patterson D, Potier MC, Nizetic D, Estivill X, Antonarakis S, Kessling, Van Broeckhoven C. A STS- based YAC conting map of human chromosome 21q ranging from the centromere to the rDNA gene cluster. Genome research (under revision).

5. “Contribución al mapa génico del cromosoma 21 y al estudio de las correlaciones genotipo-fenotipo en el SD”

A cargo del Dr. C. Mezquita Pla, del Grupo de Genética Molecular de la Facultad de Medicina de la Universidad de Barcelona.

Dividido en dos proyectos:

Subproyecto 5.1. "Contribución al mapa génico del cromosoma 21 en el SD".

A cargo del Dr. Rafael Oliva Virgili de la Facultad de Medicina de la Universidad de Barcelona.

• Egeo A, Mazzocco M, Arrigo P, Vidal-Taboada JM, Oliva R, Pirola B, Giglio S, Rasore-Quartino A, Scartezzini P. Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene. Biochem Biophys Res Commun 247, 302-306 I.F. 3.312, 1998.
• Egeo A, Mazzocco M, Sotgia F, Arrigo P, Oliva R, Bergoñón S, Nizetic D, Rasore-Quartino A, Scartezzini P. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein. Human Genetics 102, 289-293.I.F. 2.500, 1998.
• Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, M Guitart, Egozcue J, Ascaso C, Oliva R. Apolipoprotein E e4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neuroscience Letters 248, 1-4. I.F. 2.645, 1998.
• Ramos CV, Vidal-Taboada J, Bergoñón S, Lu, Egeo A, Fisher, Scartezzini P, Oliva R. Characterisation and expresión análisis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. Biochemical and Biophysica Acta 1577: 377-383, 2002.
• Vidal-Taboada J, Bergoñón S, Sánchez M, López-Acedo C, Groet J, Nizetic D, Egeo A, Scartezzini P, Katsanis N, Fisher EMC, Delabar JM, Oliva R. High-resolution physical map and identification of transcribed sequences in the Down syndrome region-2. Biochemical and Biophysical Research Communications 243, 572-578.I.F. 3.312, 1998.
• Vidal-Taboada J, Bergoñón S, Scartezzini P, Egeo A, Nizetic D, Oliva R. High-resolution physical mapping and identification of potentially regulatory sequences of the human SH3BGR gene located in the Down syndrome chromosomal region. Biochemical and Biophysical Research Communications 241, 321-326.I.F. 3.312, 1997.
• Vidal-Taboada J, Lu, Pique AM, Pons G, Gil J, Oliva R. Down Síndrome Critical Region 2: Expresión during Mouse Development and in Human Cell Lines Indicates a Function Related to Cell Proliferation. Biochemical and Biophysical Research Communications 272: 156-163, 2000.
• Vidal-Taboada JM, Sanz S, Egeo A, Scartezzini P, Oliva R. Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine rich protein. Biochemical and Biophysical Research Communications 250, 547-554.I.F. 3.312, 1998.

Subproyecto 5.2. “Contribución al estudio de las correlaciones genotipo-fenotipo en el SD”.

A cargo del Dr. Cristóbal Mezquita Pla, de la Facultad de Medicina de la Universidad de Barcelona.

• Mezquita J, Pau M, and Mezquita C. Heat shock Inducible Polyubiquitin Gene Ubl Undergoes Alternative Initiation and Alternative Splicing in Mature Chicken Testes. Molecular Genetics Reproduction and Development 46: 471-475, 1997.
• Mezquita J, Pau M, Mezquita C. Characterisation and expression of two chicken cDNAs encoding ubiquitin fused to ribosomal proteins of 52 and 80 aminoacids. Gene, an international Journal on genes and genomes 195: 313-319, 1997.
• Macip S, Mezquita C, Mezquita J. Alternative transcriptional initiation and alternative use of polyadnylation signals in the αB-crystallin gene expressed in different chicken tissues. Gene, an international Journal on genes and genomes 187: 253-257, 1997.
• Vilagrasa X, Mezquita C, Mezquita J. Differential Expression of Bcl-2 and Bcl-x During Spermatogenesis. Molecular Reproduction and Development 47: 26-29, 1997.

Estudio 6 “Estudio de la correlación fenotipo-genotipo de la población con SD atendida en la Fundación Catalana Síndrome de Down”.

A cargo del Dr. A. Serés Santamaría, de Prenatal Genetics, S.L.

• Pastor MC, Sierra C, Doladé M, Navarro E, Brandi N, Cabré E, Mira A, Serés A. Antioxidant encimes and fatty acid status in erythocytes of Down síndrome. Clinical Chemistry, 44: 924-929, 1998.
• Pastor MC, Sierra C, Doladé M, Navarro E, Brandi N, Cabré E, Mira A, Serés A. Antioxidant encimes and fatty acid status in erythocytes of Down síndrome. Clinical Chemistry, 44: 924-929, 1998.
• Pastor X, Corretger M, Gassió R, Serés A, Corretger J Mª. Parámetros somatométricos de referencia de niños y niñas con síndrome de Down visitados en el CMD (parte 2). SD-DS Revista Médica Internacional sobre el Síndrome de Down, 4:9-12, junio 1998.
• Pastor X, Corretger M, Gassió R, Serés A, Corretger J Mª. Parámetros somatométricos de referencia de niños y niñas con síndrome de Down visitados en el CMD (parte 1). SD-DS Revista Médica Internacional sobre el Síndrome de Down, 3: 9-11, marzo 1998.
• Pastor X, Corretger M, Gassió R, Serés A, Corretger J Mª. Parámetros somatométricos de referencia de niños y niñas con síndrome de Down visitados en el CMD. SD-DS Revista Médica Internacional sobre el Síndrome de Down, 4, junio 1998 (Abstract).
• Serés A. Nuevas técnicas diagnósticas (hibridación in situ). Síndrome de Down: artículos y resúmenes científicos, 27: 2-7, 1996.
• Serés A, Garnacho A. Estudio descriptivo de los aspectos médicos de los adultos con Síndrome de Down. Síndrome de Down: artículos y resúmenes científicos, 19: 3-5, 1994.
• Serés A, Triviño E, Jiménez C, Corretger JM. Trisomia parcial del cromosoma 21 diagnosticada mediante hibridación in situ (FISH). SD-DS Revista Médica Internacional sobre el Síndrome de Down, 6: 6-9, 1999.
• Pastor MC, Sierra Cristina, Doladé M, Navarro E, Brandi N, Cabré E, Mira A, Serés A. Antioxidant enzymes and fatty acid status in erythrocytes of Down syndrome partients. Clinical Chemistry, 44:5, 924-929, 1998.

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