SÍNDROME DE DOWN. 1993. PROJECTES FINANÇATS

Dr. Francesca Ballesta Martínez

Ballesta F. La síndrome de Down. Història i evolució de la síndrome de Down.Cap. 1. Ed. Fundació Catalana Síndrome de Down. Barcelona 1995. ISBN 84.921020.0.4

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 Gent, 98:460-466, 1996

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 Gent, 36:333-334, 1999

Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Apolipoprotein E e4alleles and meiotic origin of non-disjunctio in Down syndrome children and in their corresponding fathers and mothers.Neurosci lett, 248, 1-4, 1998

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, 1999, 42. 11-15

Soler A, Marfarit E, Queralt R, Carrió A, Costa D, Gómez F, Ballesta F. Paternal isodisomy 13 in a normal newborn infant after trisomy rescueevidenced by prenatal diagnosis.A J med Genet, 90:291-293, 2000

Dr  M. Dolors Coll Sandiumenge

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

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, 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

Dr  Xavier Estivill Pallejà

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.J. Flórez (ed). Sindrome de Down: Biología, desarrollo y educación. Masson, S.A. (1996). Barcelona, 13-23.

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. Elsevier Science (1999). Amsterdam, 13:895-913

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 (1999). 7:704-712.

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 (1999). 57:407-418.

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 (1996). 4:135-142.

Dierssen M, Fillat C, Pritchard M, Arbonés M, Aran JM, Flórez J, Estivill X. Generació i caracterització de models de la síndrome de Down en el ratolí, SD.Revista Mèdica Internacional sobre la síndrome de Down (1999). 18-24.

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 (1996). 98:460-466.

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.J. Flórez (ed). Sindrome de Down: Biología, desarrollo y educación. Masson, S.A. (1996). Barcelona. 25-33.

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 (1997). 45:59-67.

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 (1997)- 34:50-54.

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 (1997) 101:346-350.

M Dierssen, V Fotaki, M Martínez de Lagran, M Gratacos, ML Arbonés, C Fillat, X Estivill. Neurobehavioral development of two mouse lines cornmonly used in transgenic studies. Pharmacology Biochemistry and Behaviour, EIsevier Science 73: 19-25 (2002).

C Casas, S Martínez, MA Pritchard, JJ Fuentes, M Nadal, J Guimera, M Arbones, J Flórez, E Soriano, X Estivill, S Alcántara. Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis. Mechanisms olDevelopment 101:289-292 (2001).

X Altafaj, M Dierssen, C Baamonde, E Marti, J Visa, J Guimera, M Oset, JR Gonzalez, J Florez, C Fillat, X Estivill. Neurodevelopmental del ay, 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).

M Nadal, CG Vigo, MI Melaragno, JA Andrade, LG Alonso, D Brunoni, M Pritchard, X Estivill. Clinical and cytogenetic characterisation of a patient with Down syndrome due to a 21q22.1- qter duplication. Journal 01 Medical Genetics 38:73-76 (2001).

M Dierssen, E Marti, C Pucharcos, V Fotaki, X Altafaj, K Casas, A Solans, ML Arbones, C Fillat, X Estivill. Functional genomics of Down syndrome: a multidisciplinary approach. Journal Neural Transm SuppI61:131-148 (2001).

C Pucharcós, C Casas, M Nadal, X Estivill, S de la Luna. The human intersectin genes and their spliced variants are diffferentially expressed. Biochimica et Biophysica Acta 31: 1-11 (2001).

M Dierssen, C Fillat, L Crnic, ML Arbonés, J Flórez, X Estivill. Murine models of Down syndrome. Physiology and Behavior 73:859-871 (2001).

JJ Fuentes, L Genesca, TJ Kingsbury, KW Cunningham, M Pérez-Riba, X Estivill, S de la Luna. DSCR1, overexpressed in Down syndrome, is an inhibitor ofcalcineurin- mediated signaling pathways. Human Molecular Genetics 9: 1681-1690 (2000).

A Solans, X Estivill, S de la Luna. Cloning and characterization ofhuman FTCD on 21q22.3, a candidate gene for the glutamate formiminotransferase deficiency. Cytogenetics and Cell Genetics 88:43-49 (2000).

C Pucharcós, X Estivill, S de la Luna. Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. FEBS Letters 1-9 (2000).

SY Wang, M Cruts, J Del-Favero, Y Zhang, ..., A Bosch, HM Chen, L Bennett, X Estivill, S Antonarakis, C Van Broeckhoven. A high-resolution physical map of human chromosome 21 p using yeast artificial chromosomes. Genome Research 9:1059-1073 (1999).

S Leder, Y Weber, X Altafaj, X Estivill, HG Joost, W Becker. Cloning and Characterization of DYRK1B, a Novel Member of fue DYRK Family of Protein Kinases. Biochemical and Biophysical Research Communications 254:474-479 (1999).

X Estivill, ML Arbones, S de la Luna, J Fuentes, C Fillat, J Guimera, JM Aran, M Pérez-Riba, M Pritchard, M Dierssen. Disección molecular del cromo soma 21 y modelos murinos del síndrome de Down. Progresos en Diagnóstico Prenatal 11: 162- 166 (1999).

J Guimera. Investigación española sobre el síndrome de Down. El gen Minibrain en  el cromosoma 21 y el síndrome de Down. Síndrome de Down 15:135-136 (1998).

J Guimera, M Pritchard, M Nadal, X Estivill. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. Cytogenetics and Cell Genetics 77:182-184 (1997).

JJ Fuentes, M Pritchard, X Estivill. Genomic Organization, Alternative Splicing, and Expression Patterns of fue DSCRl (Down Syndrome Candidate Regíon 1) Gene. Genomics 44: 358-361 (1997).

X Estivill. Estudio de los genes del cromo soma 21: un camino hacia el síndrome de Down. Síndrome de Down 13:35-36 (1996).

J Guimera, C Casas, C Pucharcós, A Solans, A Domenech, AM Planas, J Ashley, M Lovett, X Estivill, MA Pritchard. Ahuman homologue of Drosophila minibrain (MNB) is expressed in the neuronal regíons affected in Down syndrome and maps to fue critical regían. Human Molecular Genetics 5:1305-1310 (1996).

JJ Fuentes, MA Pritchard, AM Planas, A Bosch, 1 Ferrer, X Estivill. A new human gene from the Down syndrome critical regían encodes a proline-rich protein highly expressed in fetal brain and heart. Human Molecular Genetics 4:1935-1944 (1995).

A Bosch, M Pritchard, J Guimera, JJ Fuentes, X Estivill. Avenços en la genètica de la síndrome de Down. In Fundació Catalana Síndrome de Down (eds). Síndrome de Down. La relació amb l'altre en la construcció de la identitat., 39-42 (1995).

Dr  Roser González Duarte

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, Gonzállez-Duarte R. USP25, a new gene encoding a deubiquitinating enzyme is located in the gene-poor region 21q11.2.Genomics 62: 395-405, 1999 -Aquest gen figura en el mapa del cromosoma 21 recentment publicat-; Nature 405: 311319, 2000

Dr  Míriam Guitart Feliubadaló

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).

Balleta 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).

Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Apolipoprotein E (4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers.Neuroscience Letters 246: 1-4 (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; p.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 Síndrome de Down.Biología, desarrollo y educación. J. Flórez, M.V. Troncoso, M. Diersen. Capítol 4. p:35-42. Editorial Masson. Barcelona. 1997.

Dr  Rafael Oliva Virgili

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

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

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

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

Vidal-Taboada J, Bergoñón S, Scartezzini P, Ege 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

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

Dr  Francesca Vidal Domínguez

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).

Vidal M, Blanco J, Egozcue J. Detección de aneuploidías en espermatozoides humanos.Progresos en Diagnóstico Prenatal 7: 472-474 (1995).

Blanco J, Rubio MC, Simón C, Egozcue J, 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).

Vidal F, Blanco J, Egozcue J. Nondisjunction gamete studies.Cytogenetics and Cell Genetics 77 (suppl. 1): 4 (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, 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).

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).

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

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, 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, 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, Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization.Human Reproduction 11: 722-726 (1996).