1993
- Genetic assessment using new diagnostic techniques. Principal researcher: Dr. Serés, CMD geneticist. Comparative study of diagnostic techniques for Down syndrome (DS): fluorescent in situ hybridization (FISH) vs. standard cytogenetic analysis. This study was designed by Centre Mèdic Down (CMD) to appraise the true value and clinical applications of the techniques compared.
- Serés-Santamaria A, Catala V, Cuatrecasas E, Villanueva R. Fluorescent in-situ hybridisation and Down’s syndrome. Lancet, (8859):1544, 1993.
- Dierssen M, Fillat C, Pritchard M, Arbonès, Aran JM, Flórez J and Estivill X. Generación y caracterización de modelos del síndrome de Down en el ratón. SD-DS International Medical Review on Down Syndrome, 7: 18-24, 1999.
- Serés A, Triviño E, Gímenez and Corretger JM. Trisomía parcial del cromosoma 21 diagnosticada mediante hibridación in situ (FISH). SD-DS International Medical Review on Down Syndrome, 6: 6-9, 1999.
- M. Nadal, Estivill X. A cytogenetic molecular study of Down Syndrome: genotype-phenotype correlations in six cases of partial chromosome 21 trisomy. SD-DS International Medical Review on Down Syndrome, 2: 19-24, 2001.
- Dierssen M et al. Cortical microarchitecture alterations in Ts65Dn mice, an animal model for Down Syndrome: impact of environmental enrichment. SD-DS International Medical Review on Down Syndrome, 7: 18-25, 2003.
- Neurologic study of sleep disorders in people with DS. All cases with sleep disorders are studied, using the latest diagnostic and treatment methods. Principal researcher: Dr. M. De la Cazada, of Hospital Universitari de la Vall d'Hebron, Barcelona.
- Study of normal growth parameters in children with DS seen at the CMD. Data compiled in recent years to be used in drawing up DS-specific growth charts. Principal researcher: X. Pastor, of Hospital Clínic de Barcelona
- Pastor X, Corretger M, Gassió R, Serés A, Corretger JM. Caso clínico: Parámetros somatométricos de referencia de niños y niñas con síndrome de Down visitadas en el CMD (parte I). SD-DS International Medical Review on Down Syndrome, 3: 9-11, 1997.
- Pastor X, Corretger M, Gassió R, Serés A, Corretger JM. Caso clínico: Parámetros somatométricos de referencia de niños y niñas con síndrome de Down visitadas en el CMD (parte II). SD-DS International Medical Review on Down Syndrome, 4: 9-12, 1998.
- Corretger JM et al. Fundació Catalana Síndrome de Down health care programme for children and adults with Down syndrome and no associated conditions. SD-DS International Medical Review on Down Syndrome, 1: 2-6, 2002.
2004 - 2005 | 2000 - 2003 |
1994 - 1999 | 1993
