Palau F - Search Results

1

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

López de Munain A, Cobo AM, Poza JJ, Navarrete D, Martorell L, Palau F, Emparanza JI, Baiget M. López de Munain A, et al. Among authors: palau f. J Med Genet. 1995 Sep;32(9):689-91. doi: 10.1136/jmg.32.9.689. J Med Genet. 1995. PMID: 8544186 Free PMC article.

2

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Claramunt R, et al. Among authors: palau f. J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178. J Med Genet. 2005. PMID: 15805163 Free PMC article. No abstract available.

3

[Molecular genetics in neurology (II). Analysis of the human genome].

Palau F, Baiget M, Gallano P. Palau F, et al. Neurologia. 1991 Oct;6(8):302-6. Neurologia. 1991. PMID: 1790008 Review. Spanish. No abstract available.

4

[Molecular genetics in neurology (I). Diagnostic strategies in the genotypic study of monogenic hereditary pathology].

Baiget M, Gallano P, Palau F. Baiget M, et al. Among authors: palau f. Neurologia. 1991 Aug-Sep;6(7):263-5. Neurologia. 1991. PMID: 1685088 Review. Spanish. No abstract available.

5

[Molecular genetics in neurology (III). Contribution to the knowledge of molecular pathology].

Gallano MP, Baiget M, Palau F. Gallano MP, et al. Among authors: palau f. Neurologia. 1991 Nov;6(9):334-43. Neurologia. 1991. PMID: 1839709 Review. Spanish. No abstract available.

6

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: palau f. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

7

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F. García-Planells J, et al. Among authors: palau f. J Med Genet. 1999 Feb;36(2):148-51. J Med Genet. 1999. PMID: 10051016 Free PMC article.

8

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

Martínez F, Gal A, Palau F, Prieto F. Martínez F, et al. Among authors: palau f. Am J Med Genet. 1995 Jan 30;55(3):387-90. doi: 10.1002/ajmg.1320550328. Am J Med Genet. 1995. PMID: 7726242

9

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

Martínez F, Tomás M, Millán JM, Fernández A, Palau F, Prieto F. Martínez F, et al. Among authors: palau f. J Med Genet. 1998 Apr;35(4):284-7. doi: 10.1136/jmg.35.4.284. J Med Genet. 1998. PMID: 9598720 Free PMC article.

10

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R. Espinós C, et al. Among authors: palau f. J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19. J Med Genet. 2009. PMID: 19304569 Free article.

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