Sarret E - Search Results

1

Bends in human mitotic metaphase chromosomes revisited: 15q11-13 is the most frequent non-random autosomal bend in blood cultures.

Plaja A, Miró R, Fuster C, Perez C, Sarret E, Esteve P, Egozcue J. Plaja A, et al. Among authors: sarret e. Am J Med Genet. 2001 Jun 15;101(2):106-13. doi: 10.1002/1096-8628(20010615)101:2<106::aid-ajmg1339>3.0.co;2-z. Am J Med Genet. 2001. PMID: 11391652

2

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

Plaja A, Vendrell T, Smeets D, Sarret E, Gili T, Català V, Mediano C, Scheres JM. Plaja A, et al. Among authors: sarret e. Am J Med Genet. 2001 Jan 22;98(3):216-23. doi: 10.1002/1096-8628(20010122)98:3<216::aid-ajmg1091>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11169558 Review.

3

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Plaja A, Miro R, Lloveras E, Sarret E, Fernandez B, Egozcue J. Plaja A, et al. Among authors: sarret e. Ann Genet. 2004 Oct-Dec;47(4):429-32. doi: 10.1016/j.anngen.2004.07.002. Ann Genet. 2004. PMID: 15581843

4

Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24.

Hernando C, Plaja A, Català V, Sarret E, Egozcue J, Fuster C. Hernando C, et al. Among authors: sarret e. Fertil Steril. 2004 Dec;82(6):1666-71. doi: 10.1016/j.fertnstert.2004.05.085. Fertil Steril. 2004. PMID: 15589876 Free article.

5

Terminal deletion of 6p: report of a new case.

Plaja A, Vidal R, Soriano D, Bou X, Vendrell T, Mediano C, Pueyo JM, Labraña X, Sarret E. Plaja A, et al. Among authors: sarret e. Ann Genet. 1994;37(4):196-9. Ann Genet. 1994. PMID: 7710255

6

Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.

Plaja A, Mediano C, Farran I, Vendrell T, Toran N, Gili T, Sanchez MA, Sarret E. Plaja A, et al. Among authors: sarret e. Ann Genet. 1998;41(1):52-5. Ann Genet. 1998. PMID: 9599652

7

Terminal deletion of Xp in a dysmorphic anencephalic fetus.

Plaja A, Vendrell T, Sarret E, Torán N, Mediano C. Plaja A, et al. Among authors: sarret e. Prenat Diagn. 1994 May;14(5):410-2. doi: 10.1002/pd.1970140512. Prenat Diagn. 1994. PMID: 8084861

8

Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD).

Plaja A, Mediano C, Cano L, Vendrell T, Sarret E, Farràn I, Sánchez MA. Plaja A, et al. Among authors: sarret e. Am J Med Genet A. 2003 Feb 15;117A(1):85-6. doi: 10.1002/ajmg.a.10810. Am J Med Genet A. 2003. PMID: 12548747 No abstract available.

9

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Valero R, Marfany G, Gil-Benso R, Ibáñez MA, López-Pajares I, Prieto F, Rullan G, Sarret E, Gonzàlez-Duarte R. Valero R, et al. Among authors: sarret e. J Med Genet. 1999 Sep;36(9):694-9. J Med Genet. 1999. PMID: 10507727 Free PMC article.

10

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.

Palenzuela L, Vives-Bauza C, Fernández-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL. Palenzuela L, et al. Among authors: sarret e. J Med Genet. 2002 Oct;39(10):E67. doi: 10.1136/jmg.39.10.e67. J Med Genet. 2002. PMID: 12362049 Free PMC article. No abstract available.

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