Galán F - Search Results

1

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: galan f, galan r. J Med Genet. 2006 Nov;43(11):e54. doi: 10.1136/jmg.2006.042440. J Med Genet. 2006. PMID: 17085680 Free PMC article.

2

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM. Aller E, et al. Among authors: galan f. Clin Genet. 2004 Dec;66(6):525-9. doi: 10.1111/j.1399-0004.2004.00352.x. Clin Genet. 2004. PMID: 15521980

3

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.

Marcos AT, Amorós D, Muñoz-Cabello B, Galán F, Rivas Infante E, Alcaraz-Mas L, Navarro-Pando JM. Marcos AT, et al. Among authors: galan f. Mol Genet Genomic Med. 2020 Aug;8(8):e1290. doi: 10.1002/mgg3.1290. Epub 2020 May 18. Mol Genet Genomic Med. 2020. PMID: 32420686 Free PMC article.

4

Interstitial 15q deletion without a classic Prader-Willi phenotype.

Galán F, Aguilar MS, González J, Clemente F, Sánchez R, Tapia M, Moya M. Galán F, et al. Am J Med Genet. 1991 Mar 15;38(4):532-4. doi: 10.1002/ajmg.1320380406. Am J Med Genet. 1991. PMID: 2063892

5

Partial trisomy 13q22----qter. A new case.

Galán F, García R, Aguilar MS, Moya M. Galán F, et al. Ann Genet. 1989;32(2):114-6. Ann Genet. 1989. PMID: 2757360

6

69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.

Galán F, Orts F, Aguilar MS, Clemente F, Loeda C, Aranda I, Jimenez Cobo B. Galán F, et al. Ann Genet. 1991;34(1):37-9. Ann Genet. 1991. PMID: 1952791

7

Full trisomy 22 in a malformed newborn female.

Feret MA, Galán F, Aguilar MS, Serrano JL, Cidras M, Garcia R. Feret MA, et al. Among authors: galan f. Ann Genet. 1991;34(1):44-6. Ann Genet. 1991. PMID: 1952793 Review.

8

A patient with autistic disorder and a 20/22 chromosomal translocation.

Carratalá F, Galán F, Moya M, Estivill X, Pritchard MA, Llevadot R, Nadal M, Gratacòs M. Carratalá F, et al. Among authors: galan f. Dev Med Child Neurol. 1998 Jul;40(7):492-5. doi: 10.1111/j.1469-8749.1998.tb15400.x. Dev Med Child Neurol. 1998. PMID: 9698063 Free article.

9

[Diagnostic advances in biochemical and molecular analysis].

Moya M, Cortés E, Aguilar MS, Galán F, Juste M. Moya M, et al. Among authors: galan f. An Esp Pediatr. 1991 Dec;35 Suppl 47:110-4. An Esp Pediatr. 1991. PMID: 1821557 Review. Spanish. No abstract available.

10

Deletion of chromosome 13:46,XY,del(13)(q14-->qter) after in vitro fertilization and tubal embryo transfer.

Bernabeu R, Bonada M, Cremades N, Galán F. Bernabeu R, et al. Among authors: galan f. J Assist Reprod Genet. 1996 Jul;13(6):519-22. doi: 10.1007/BF02066537. J Assist Reprod Genet. 1996. PMID: 8835685 No abstract available.

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