Orellana C - Search Results

1

New variants expand the neurological phenotype of COQ7 deficiency.

Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: orellana c. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597

2

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Martínez F, Martínez-Garay I, Oltra S, Moltó MD, Orellana C, Monfort S, Prieto F, Tejada I. Martínez F, et al. Among authors: orellana c. Am J Med Genet A. 2004 Dec 1;131(2):174-8. doi: 10.1002/ajmg.a.30352. Am J Med Genet A. 2004. PMID: 15526294

3

Recombinant X chromosome in a prenatal diagnosis.

Orellana C, Badía L, Martínez F, Oltra JS, Monfort S, Roselló M, Cervera JV, García Z, Prieto F. Orellana C, et al. Cytogenet Genome Res. 2006;112(3-4):337-40. doi: 10.1159/000089890. Cytogenet Genome Res. 2006. PMID: 16484792

4

There is no evidence that the SDHB gene is involved in neuroblastoma development.

Grau E, Oltra S, Orellana C, Hernández-Martí M, Castel V, Martínez F. Grau E, et al. Among authors: orellana c. Oncol Res. 2005;15(7-8):393-8. doi: 10.3727/096504005776449671. Oncol Res. 2005. PMID: 16491957

5

A subtelomeric translocation apparently implied in multiple abortions.

Monfort S, Martínez F, Roselló M, Badia L, Prieto F, Orellana C. Monfort S, et al. Among authors: orellana c. J Assist Reprod Genet. 2006 Feb;23(2):97-101. doi: 10.1007/s10815-006-9033-5. Epub 2006 Apr 5. J Assist Reprod Genet. 2006. PMID: 16596466 Free PMC article.

6

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

Monfort S, Orellana C, Oltra S, Roselló M, Guitart M, Martínez F. Monfort S, et al. Among authors: orellana c. J Lab Clin Med. 2006 Jun;147(6):295-300. doi: 10.1016/j.lab.2006.01.006. J Lab Clin Med. 2006. PMID: 16750667 Clinical Trial.

7

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

Martínez F, León AM, Monfort S, Oltra S, Roselló M, Orellana C. Martínez F, et al. Among authors: orellana c. Genet Test. 2006 Fall;10(3):174-7. doi: 10.1089/gte.2006.10.174. Genet Test. 2006. PMID: 17020468

8

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.

Monfort S, Blesa D, Roselló M, Orellana C, Oltra S, Cigudosa JC, Martínez F. Monfort S, et al. Among authors: orellana c. Am J Med Genet A. 2007 Feb 15;143(4):382-4. doi: 10.1002/ajmg.a.31608. Am J Med Genet A. 2007. PMID: 17230491 No abstract available.

9

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Roselló M, Monfort S, Orellana C, Oltra S, Martínez Garay I, Martínez F. Roselló M, et al. Among authors: orellana c. Med Clin (Barc). 2007 Mar 24;128(11):419-21. doi: 10.1157/13100343. Med Clin (Barc). 2007. PMID: 17394858 Spanish.

10

Clinical findings and molecular characterization of six subtelomeric imbalances.

Orellana C, Monfort S, Roselló M, Oltra S, Martínez F. Orellana C, et al. Clin Genet. 2007 May;71(5):474-9. doi: 10.1111/j.1399-0004.2007.00792.x. Clin Genet. 2007. PMID: 17489855 No abstract available.

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