Margarit E - Search Results

1

Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements.

Soler A, Margarit E, Carrió A, Costa D, Queralt R, Ballesta F. Soler A, et al. Among authors: margarit e. J Med Genet. 1999 Apr;36(4):333-4. J Med Genet. 1999. PMID: 10227405 Free PMC article.

2

A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses.

Soler A, Morales C, Badenas C, Rodríguez-Revenga L, Carrió A, Margarit E, Costa D, Borrell A, Goncé A, Milà M, Sánchez A. Soler A, et al. Among authors: margarit e. Fetal Diagn Ther. 2008;23(2):126-31. doi: 10.1159/000111592. Epub 2007 Nov 26. Fetal Diagn Ther. 2008. PMID: 18046070

3

Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities.

Morales C, Sánchez A, Bruguera J, Margarit E, Borrell A, Borobio V, Soler A. Morales C, et al. Among authors: margarit e. Am J Med Genet A. 2008 Jan 1;146A(1):66-70. doi: 10.1002/ajmg.a.32058. Am J Med Genet A. 2008. PMID: 18074370

4

Cytogenetic studies in fetal blood.

Costa D, Borrell A, Soler A, Carrió A, Margarit E, Ballesta F, Puerto B, Caballín MR, Fortuny A. Costa D, et al. Among authors: margarit e. Fetal Diagn Ther. 1998 May-Jun;13(3):169-75. doi: 10.1159/000020832. Fetal Diagn Ther. 1998. PMID: 9708441

5

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

Margarit E, Soler A, Carrió A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F. Margarit E, et al. J Med Genet. 1998 Sep;35(9):727-30. doi: 10.1136/jmg.35.9.727. J Med Genet. 1998. PMID: 9733030 Free PMC article.

6

SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.

Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F. Margarit E, et al. Am J Med Genet. 2000 Jan 3;90(1):25-8. doi: 10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10602113

7

Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.

Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez D, Ballesta F. Soler A, et al. Among authors: margarit e. Am J Med Genet. 2000 Feb 14;90(4):291-3. Am J Med Genet. 2000. PMID: 10710225

8

Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.

Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E. Queralt R, et al. Among authors: margarit e. Am J Med Genet A. 2008 May 15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284. Am J Med Genet A. 2008. PMID: 18412126

9

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Margarit E, Borrell A. Soler A, et al. Among authors: margarit e. Am J Med Genet A. 2005 Apr 30;134(3):309-14. doi: 10.1002/ajmg.a.30640. Am J Med Genet A. 2005. PMID: 15732062 Review.

10

Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region.

Morales C, Madrigal I, Esqué T, de la Fuente JE, Rodríguez JM, Margarit E, Soler A, Sánchez A. Morales C, et al. Among authors: margarit e. Am J Med Genet A. 2007 Jan 15;143A(2):179-83. doi: 10.1002/ajmg.a.31570. Am J Med Genet A. 2007. PMID: 17163539

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