Margarit E - Search Results

1

First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22).

Hurtado B, Nadal M, Margarit E, Sánchez A, Abasolo N, García N, Doménech P, Sala N. Hurtado B, et al. Among authors: margarit e. Thromb Haemost. 2009 May;101(5):977-9. Thromb Haemost. 2009. PMID: 19404554 No abstract available.

2

Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation.

Morales C, Soler A, Margarit E, Madrigal I, Sánchez A. Morales C, et al. Among authors: margarit e. Am J Med Genet A. 2007 Oct 15;143A(20):2423-9. doi: 10.1002/ajmg.a.31777. Am J Med Genet A. 2007. PMID: 17853459

3

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.

Mademont-Soler I, Morales C, Madrigal I, Margarit E, Bruguera J, Clusellas N, Martínez JM, Borrell A, Sánchez A, Soler A. Mademont-Soler I, et al. Among authors: margarit e. Am J Med Genet A. 2009 Dec;149A(12):2820-3. doi: 10.1002/ajmg.a.33105. Am J Med Genet A. 2009. PMID: 19921651

4

Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion.

Morales C, Soler A, Bruguera J, Madrigal I, Alsius M, Obon M, Margarit E, Sánchez A. Morales C, et al. Among authors: margarit e. Cytogenet Genome Res. 2007;116(4):319-23. doi: 10.1159/000100418. Cytogenet Genome Res. 2007. PMID: 17431332

5

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

6

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.

7

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

Margarit E, Morales C, Rodríguez-Revenga L, Monné R, Badenas C, Soler A, Clusellas N, Mademont I, Sánchez A. Margarit E, et al. Am J Med Genet A. 2012 Mar;158A(3):611-6. doi: 10.1002/ajmg.a.34221. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302430

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

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sánchez A, Soler A. Mademont-Soler I, et al. Among authors: margarit e. Prenat Diagn. 2010 Dec;30(12-13):1165-9. doi: 10.1002/pd.2635. Prenat Diagn. 2010. PMID: 20936637

10

Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes.

Soler A, Morales C, Mademont-Soler I, Margarit E, Borrell A, Borobio V, Muñoz M, Sánchez A. Soler A, et al. Among authors: margarit e. Cytogenet Genome Res. 2017;152(2):81-89. doi: 10.1159/000477707. Epub 2017 Jun 30. Cytogenet Genome Res. 2017. PMID: 28662500

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