Milà M - Search Results

1

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

Kohan R, Cannelli N, Aiello C, Santorelli FM, Cismondi AI, Milà M, Oller Ramírez AM, Halac IN. Kohan R, et al. Among authors: mila m. Hum Genet. 2008 Jun;123(5):552. Hum Genet. 2008. PMID: 20960652 No abstract available.

2

Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.

Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M. Pérez-Poyato MS, et al. Among authors: mila m. J Child Neurol. 2013 Apr;28(4):470-8. doi: 10.1177/0883073812448459. Epub 2012 Jul 25. J Child Neurol. 2013. PMID: 22832778

3

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G. Vandewalle J, et al. Among authors: mila m. Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019. Am J Hum Genet. 2009. PMID: 20004760 Free PMC article.

4

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, Cormand B, Toma C. Torrico B, et al. Among authors: mila m. Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782667 Free PMC article.

5

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.

Madrigal I, Fernández-Burriel M, Rodriguez-Revenga L, Cabrera JC, Martí M, Mur A, Milà M. Madrigal I, et al. Among authors: mila m. J Hum Genet. 2010 Dec;55(12):822-6. doi: 10.1038/jhg.2010.119. Epub 2010 Sep 23. J Hum Genet. 2010. PMID: 20861843

6

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V; Spanish HD Collaborative group; Monckton DG, Ramos-Arroyo MA. Ruiz de Sabando A, et al. Hum Mol Genet. 2023 Mar 6;32(6):897-906. doi: 10.1093/hmg/ddac224. Hum Mol Genet. 2023. PMID: 36130218 Free PMC article.

7

Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles.

Castellví-Bel S, Fernández-Burriel M, Rifé M, Jiménez D, Mallolas J, Sánchez A, Ramos F, Milà M. Castellví-Bel S, et al. Among authors: mila m. Hum Genet. 2000 Aug;107(2):195-6. doi: 10.1007/s004390000349. Hum Genet. 2000. PMID: 11030419

8

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.

Sánchez A, Castellví-Bel S, Milà M, Genis D, Calopa M, Jiménez D, Estivill X. Sánchez A, et al. Among authors: mila m. J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):625-7. doi: 10.1136/jnnp.61.6.625. J Neurol Neurosurg Psychiatry. 1996. PMID: 8971113 Free PMC article.

9

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.

Milà M, Sànchez A, Badenas C, Brun C, Jiménez D, Villa MP, Castellví-Bel S, Estivill X. Milà M, et al. Hum Genet. 1997 Oct;100(5-6):503-7. doi: 10.1007/s004390050542. Hum Genet. 1997. PMID: 9341861

10

Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study.

Muñoz E, Milà M, Sánchez A, Latorre P, Ariza A, Codina M, Ballesta F, Tolosa E. Muñoz E, et al. Among authors: mila m. J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):811-4. doi: 10.1136/jnnp.67.6.811. J Neurol Neurosurg Psychiatry. 1999. PMID: 10567506 Free PMC article.

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