Coll MD - Search Results

1

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.

Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD. Poyatos D, et al. Among authors: coll md. J Med Genet. 2002 Feb;39(2):E4. doi: 10.1136/jmg.39.2.e4. J Med Genet. 2002. PMID: 11836373 Free PMC article. No abstract available.

2

Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma.

Triviño E, Guitart M, Egozcue J, Coll MD. Triviño E, et al. Among authors: coll md. Cancer Genet Cytogenet. 1997 Jul 1;96(1):23-5. doi: 10.1016/s0165-4608(97)89572-6. Cancer Genet Cytogenet. 1997. PMID: 9209465

3

Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation.

Poyatos D, Coll MD, Guitart M, Colomer J. Poyatos D, et al. Among authors: coll md. Eur J Pediatr. 1999 Dec;158(12):1006. doi: 10.1007/s004310051269. Eur J Pediatr. 1999. PMID: 10592081 No abstract available.

4

[Prader Willi syndrome patients: study of 77 patients].

Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Poyatos D, et al. Among authors: coll md. Med Clin (Barc). 2009 Nov 7;133(17):649-56. doi: 10.1016/j.medcli.2009.04.051. Epub 2009 Sep 13. Med Clin (Barc). 2009. PMID: 19748638 Spanish.

5

Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis.

Grao P, Guitart M, Coll MD, Egozcue J. Grao P, et al. Among authors: coll md. Early Hum Dev. 1993 Jun;33(2):101-8. doi: 10.1016/0378-3782(93)90205-9. Early Hum Dev. 1993. PMID: 8055774

6

ETV6/RUNX1 rearrangement in childhood B-precursor acute lymphoblastic leukemia with normal karyotypes or without cytogenetic results.

Alvarez Y, Gaitán S, Perez A, Bastida P, Ortega JJ, Dastugue N, Robert A, Aventín A, Badell I, Guitart M, Melo M, Caballín MR, Coll MD. Alvarez Y, et al. Among authors: coll md. Cancer Genet Cytogenet. 2004 Jul 1;152(1):77-80. doi: 10.1016/j.cancergencyto.2003.10.012. Cancer Genet Cytogenet. 2004. PMID: 15193447

7

Genetic abnormalities associated with the t(12;21) and their impact in the outcome of 56 patients with B-precursor acute lymphoblastic leukemia.

Alvarez Y, Coll MD, Ortega JJ, Bastida P, Dastugue N, Robert A, Cervera J, Verdeguer A, Tasso M, Aventín A, Guitart M, Caballín MR. Alvarez Y, et al. Among authors: coll md. Cancer Genet Cytogenet. 2005 Oct 1;162(1):21-9. doi: 10.1016/j.cancergencyto.2005.02.019. Cancer Genet Cytogenet. 2005. PMID: 16157196

8

New data on the synaptic process of Mesocricetus auratus: connecting fibers, telomere association and heterosynapsis.

Guitart M, Ponsà M, Coll MD, Egozcue J. Guitart M, et al. Among authors: coll md. Genetica. 1987 Oct 15;74(2):105-12. doi: 10.1007/BF00055220. Genetica. 1987. PMID: 3506530

9

A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype.

Rego A, Coll MD, Regal M, Guitart M, Escudero T, García-Mayor RV. Rego A, et al. Among authors: coll md. Horm Res. 1997;48(1):44-6. doi: 10.1159/000185422. Horm Res. 1997. PMID: 9195210

10

Presenting features of 201 children with acute lymphoblastic leukemia: comparison according to presence or absence of ETV6/RUNX1 rearrangement.

Alvarez Y, Caballín MR, Gaitán S, Pérez A, Bastida P, Ortega JJ, Cervera J, Verdeguer A, Tasso M, Aventín A, Badell I, Guitart M, Melo M, Granada I, Javier G, Dastugue N, Robert A, Coll MD. Alvarez Y, et al. Among authors: coll md. Cancer Genet Cytogenet. 2007 Sep;177(2):161-3. doi: 10.1016/j.cancergencyto.2007.05.012. Cancer Genet Cytogenet. 2007. PMID: 17854676 No abstract available.

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