M. Milá

Z. Tümer, F. Martínez, M. Milá, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

A. Ribes, M. Milá, P. Briones, 2010, European Journal of Human Genetics.

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

C. Badenas, M. Milá, M. Lecha, 2006, Journal of Inherited Metabolic Disease.

REM sleep behavior disorder and vocal cord paralysis in Machado‐Joseph disease

E. Tolosa, J. Santamaria, E. Muñoz, 2003, Movement disorders : official journal of the Movement Disorder Society.

Prognostic significance of cytogenetical studies in chronic granulocytic leukaemia.

M. Milá, C. Rozman, F. Cervantes, 2009, Scandinavian journal of haematology.

A double‐blind, parallel, multicenter comparison of L‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

L. Vallée, G. Neri, F. Ramos, 2008, American journal of medical genetics. Part A.

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease

J. Malvehy, S. Puig, M. Marti, 2015, Annals of neurology.

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor‐suppressor

X. Estivill, M. James, J. Malvehy, 2007, Genes, chromosomes & cancer.

Cytogenetic studies in blast crisis of Ph-positive chronic granulocytic leukemia: results and prognostic evaluation in 52 patients.

M. Milá, C. Rozman, F. Cervantes, 1986, Cancer genetics and cytogenetics.

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

X. Estivill, V. Volpini, C. Badenas, 2001, American journal of medical genetics.

Genes responsible for nonspecific mental retardation.

M. Milá, S. Castellví-Bel, 2001, Molecular genetics and metabolism.

46,XY,18q+/46,XY,18q− mosaicism in a fragile X prenatal diagnosis

C. Badenas, M. Milá, L. Rodriguez-Revenga, 2005, Prenatal diagnosis.

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

L. Armengol, C. Badenas, M. Milá, 2009, Cytogenetic and Genome Research.

Prevalence Studies on Fragile X Alleles in Autism

M. Milá, L. Rodriguez-Revenga, I. Madrigal, 2014 .

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

X. Estivill, H. Kruyer, V. Volpini, 1994, Human Genetics.

Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples

X. Estivill, M. Milá, Aurora Sánchez, 1995, Prenatal diagnosis.

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

M. Milá, L. Rodriguez-Revenga, I. Madrigal, 2012, Gene.

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation

M. Tejada, C. Badenas, M. Milá, 2006, Clinical genetics.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Associated features in females with an FMR1 premutation

J. Greenberg, J. Olichney, M. Milá, 2014, Journal of Neurodevelopmental Disorders.

Evidence of depressive symptoms in fragile-X syndrome premutated females

M. Milá, M. Alegret, I. Madrigal, 2008, Psychiatric genetics.

Mutational analysis within the 3' region of the PKD1 gene.

X. Estivill, J. L. San Millán, R. Torra, 1999, Kidney international.

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

X. Estivill, H. Kruyer, M. Milá, 1994, Journal of medical genetics.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

X. Estivill, J. Dopazo, F. García-García, 2015, Gene.

Mutations in the COL 4 A 4 and COL 4 A 3 Genes Cause Familial Benign Hematuria

C. Antignac, X. Lens, R. Torra, 2002 .

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

R. Torra, L. Pérez-Oller, C. Badenas, 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.

High apolipoprotein E4 allele frequency in FXTAS patients

M. Milá, R. Oliva, I. Madrigal, 2013, Genetics in Medicine.

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.

X. Estivill, M. Milá, A. Sánchez, 2019, Gene.

Neurological Advertisements on Stamps

E. Tolosa, E. Muñoz, A. Ariza, 1999, Journal of neurology, neurosurgery, and psychiatry.

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

X. Estivill, C. Badenas, M. Milá, 1997, Human Genetics.

Rare variants in the promoter of the fragile X syndrome gene (FMR1).

X. Estivill, J. Mallolas, A. Barceló, 2000, Molecular and cellular probes.

Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders

M. Milá, F. Tassone, 2017 .

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

B. Gómez-Anson, C. Badenas, M. Milá, 2008, Genetic testing.

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome

C. Badenas, M. Milá, I. Madrigal, 2015, Neurodegenerative Diseases.

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease

E. Muñoz, C. Badenas, M. Milá, 2005, Neurology.

J. Malvehy, S. Puig, M. Marti, 2015 .

J. Malvehy, S. Puig, M. Marti, 2016, Annals of neurology.

Reply to Letter to Editor ANA‐15‐1051 ‘Is the MC1R variant p.R160W associated with Parkinson's?' by Lubbe SJ, Escott‐Price V, Brice A, et al.

J. Malvehy, S. Puig, M. Marti, 2015 .

Expansion of an intermediate allele of the FMR1 gene in only two generations

M. Milá, J. Juan, A. Zuniga, 2005, Clinical genetics.

Analysis of CGG variation through 642 meioses in Fragile X families.

C. Badenas, M. Milá, A. Sánchez, 2004, Molecular human reproduction.

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele

B. Gómez-Anson, M. Milá, J. Pagonabarraga, 2016, The Cerebellum.

Motor and mental dysfunction in mother–daughter transmitted FXTAS

J. Kulisevsky, B. Gómez-Anson, M. Milá, 2010, Neurology.

Deletion of the OPHN1 gene detected by aCGH.

C. Badenas, M. Milá, A. Sánchez, 2008, Journal of intellectual disability research : JIDR.

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

C. Badenas, M. Milá, C. Herrero, 2005, Molecular genetics and metabolism.

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

K. Mrasek, T. Liehr, C. Fuster, 2010, American journal of medical genetics. Part A.

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

X. Estivill, C. Badenas, M. Milá, 1996, Human Genetics.

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

M. Milá, A. Matilla-Dueñas, L. Rodríguez-Revenga, 2016, Cerebellum.

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

Cristina E. Trevino, D. Cutler, M. Epstein, 2021, Fertility and sterility.

Genetic influence on fibromyalgia

M. Milá, E. Docampo, A. C. Cruz, 2014 .

Maternal transmission in sporadic Huntington's disease.

X. Estivill, C. Badenas, M. Milá, 1997, Journal of neurology, neurosurgery, and psychiatry.

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

L. Armengol, M. Milá, I. Madrigal, 2007, Journal of Inherited Metabolic Disease.

[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].

X. Estivill, M. Milá, A. Sánchez, 1999, Medicina clinica.

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

X. Estivill, M. Milá, E. Docampo, 2013, Gene.

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

X. Estivill, M. Milá, R. Willemsen, 2014, Neurobiology of Disease.

[Fragile X syndrome: premature ovarian failure. Preimplantation and preconception genetic diagnosis].

J. Mallolas, M. Milá, 2001, Revista de neurologia.

[Recommendations of good practices for molecular diagnosis of Huntington disease].

M. Milá, M. Trujillo-Tiebas, M. A. Ramos Arroyo, 2012, Medicina clinica.

Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.

C. Badenas, M. Milá, I. Madrigal, 2010, Translational research : the journal of laboratory and clinical medicine.

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.

Á. Lanas, M. Milá, M. Strunk, 2005, Cancer letters.

Bmc Medical Genetics Molecular Analysis of the Apc and Mutyh Genes in Galician and Catalonian Fap Families: a Different Spectrum of Mutations?

Á. Carracedo, M. Milá, F. Balaguer, 2022 .

Associated features in females with an FMR1 premutation

J. Olichney, M. Milá, Jin-Chen Yang, 2014, Journal of Neurodevelopmental Disorders.

[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].

J. Mallolas, M. Milá, M. Vilaseca, 2000, Revista de neurologia.