Moltó MD - Search Results

1

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. Martínez-Garay I, et al. Among authors: molto md. Eur J Hum Genet. 2007 Jan;15(1):29-34. doi: 10.1038/sj.ejhg.5201717. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033686

2

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Martínez F, Martínez-Garay I, Millán JM, Pérez-Aytes A, Moltó MD, Orellana C, Prieto F. Martínez F, et al. Among authors: molto md. Am J Med Genet. 2001 Aug 1;102(2):200-4. doi: 10.1002/ajmg.1416. Am J Med Genet. 2001. PMID: 11477616

3

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: molto md. 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

4

Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.

Monrós E, Smeyers P, Rodius F, Cañizares J, Moltó MD, Vilchez JJ, Pandolfo M, Lopez-Arlandis J, de Frutos R, Prieto F, et al. Monrós E, et al. Among authors: molto md. Eur J Hum Genet. 1994;2(4):291-9. doi: 10.1159/000472373. Eur J Hum Genet. 1994. PMID: 7704559

5

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F. Monrós E, et al. Among authors: molto md. Eur J Hum Genet. 1996;4(4):191-8. doi: 10.1159/000472198. Eur J Hum Genet. 1996. PMID: 8875184

6

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F. Monrós E, et al. Among authors: molto md. Am J Hum Genet. 1997 Jul;61(1):101-10. doi: 10.1086/513887. Am J Hum Genet. 1997. PMID: 9245990 Free PMC article.

7

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Martínez-Garay I, Ballesta MJ, Oltra S, Orellana C, Palomeque A, Moltó MD, Prieto F, Martínez F. Martínez-Garay I, et al. Among authors: molto md. Clin Genet. 2003 Dec;64(6):491-6. doi: 10.1046/j.1399-0004.2003.00166.x. Clin Genet. 2003. PMID: 14986828

8

Screening for microdeletions of the X-chromosome in non-specific mental retardation.

Martínez F, Oltra S, Berges M, Orellana C, Prieto F, Martínez-Garay I, Moltó MD. Martínez F, et al. Among authors: molto md. Am J Med Genet A. 2004 Jan 1;124A(1):99-101. doi: 10.1002/ajmg.a.20398. Am J Med Genet A. 2004. PMID: 14679596 No abstract available.

9

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F. De Castro M, et al. Among authors: molto md. Hum Genet. 2000 Jan;106(1):86-92. doi: 10.1007/s004399900201. Hum Genet. 2000. PMID: 10982187

10

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: molto md. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

77 results

Search Page

Filters