F. Martínez

发表

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Microphthalmia with Linear Skin Defects Syndrome

F. Martínez, A. García-Rabasco, Blanca De-Unamuno, 2013, Pediatric dermatology.

Molecular characterization of Spanish patients with MECP2 duplication syndrome

M. Roselló, C. Orellana, M. Tejada, 2020, Clinical genetics.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

L. Armengol, X. Estivill, F. Martínez, 2007, BMC Genomics.

Fact or Fiction?

F. Martínez, J. Mas-Oliva, Andrés A. Gutiérrez, 1996, Annals of Internal Medicine.

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability

F. Martínez, Ana Victoria Marco Hernández, Alfonso Caro, 2021, American journal of medical genetics. Part A.

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

C. Orellana, F. Martínez, A. Cañete, 2011, Molecular carcinogenesis.

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients

C. Orellana, F. Martínez, A. Cañete, 2010, Journal of Cancer Research and Clinical Oncology.

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma

C. Orellana, F. Martínez, A. Cañete, 2011, Journal of Cancer Research and Clinical Oncology.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

H. Lerche, F. Martínez, A. Münchau, 2021, Frontiers in Neurology.

Germline variant in Ctcf links mental retardation to Wilms tumor predisposition

F. Martínez, M. Tasso, A. Cañete, 2022, European Journal of Human Genetics.

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2020, Pediatric Research.

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.

F. Martínez, M. Milá, E. García-Arumí, 2020, Mitochondrion.

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

M. Roselló, C. Orellana, F. Martínez, 2015, Genetics in Medicine.

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

C. Broeckhoven, J. Millán, F. Martínez, 1997, Human Genetics.

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants

F. Martínez, J. Aznar, S. Haya, 1998, American journal of hematology.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

J. Millán, C. Orellana, F. Martínez, 1999, American journal of human genetics.

Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene

M. Roselló, C. Orellana, F. Martínez, 2014, American journal of medical genetics. Part A.

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

M. Roselló, C. Orellana, F. Martínez, 2009, American journal of medical genetics. Part A.

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

J. Benito-León, F. Martínez, S. Mayo, 2022, International journal of molecular sciences.

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2016, Journal of Medical Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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

J. Ramser, A. Meindl, F. Martínez, 2007, European Journal of Human Genetics.

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development

F. Martínez, M. Tomás Vila, S. Monfort, 2022, Journal of child neurology.

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

F. Martínez, J. Aznar, S. Haya, 2000 .

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

M. Roselló, C. Orellana, F. Martínez, 2016, Pediatric Research.

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

J. Millán, F. Martínez, F. Prieto, 1995, Human Genetics.

Pediatric brain tumors: loss of heterozygosity at 17p and TP53 gene mutations.

J. Millán, C. Orellana, F. Martínez, 1998, Cancer genetics and cytogenetics.

Letter to the editor: Refined localization of the Prieto‐Syndrome locus

F. Martínez, A. Gal, F. Prieto, 1996 .

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain

J. Millán, F. Martínez, F. Prieto, 1999, Clinical genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

The Doublecortin Gene, A New Molecular Marker to Detect Minimal Residual Disease in Neuroblastoma

C. Orellana, F. Martínez, J. M. Fernández, 2005, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Phenotype profiling of patients with intellectual disability and copy number variations.

M. Roselló, C. Orellana, F. Martínez, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

M. Roselló, C. Orellana, F. Martínez, 2009, Journal of Inherited Metabolic Disease.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

C. Orellana, F. Martínez, J. M. Fernández, 2009, Journal of Cancer Research and Clinical Oncology.

Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients

F. Martínez, A. Cid, J. Aznar, 2008, Journal of thrombosis and haemostasis : JTH.

Multi‐system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

L. Pérez-Jurado, M. Tejada, F. Martínez, 2011, European Journal of Human Genetics.

Clinical implication of FMR1 intermediate alleles in a Spanish population

B. Rodríguez-Santiago, F. Martínez, M. Milá, 2018, Clinical genetics.

Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.

F. Martínez, J. Aznar, J. I. Lorenzo, 2000, Haematologica.

Significant linkage and non‐linkage of type 1 von Willebrand disease to the von Willebrand factor gene

F. Martínez, J. Aznar, S. Haya, 2001, British journal of haematology.

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

M. Roselló, C. Orellana, F. Martínez, 2009, Reproductive Biomedicine Online.

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

M. Roselló, C. Orellana, F. Martínez, 2021, Scientific Reports.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi–Hünermann–Happle syndrome: new insights into X‐linked dominant chondrodysplasia punctata with a comprehensive review of the literature

F. Martínez, R. González-Sarmiento, J. Rosell, 2012, The British journal of dermatology.

Autosomal‐dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

F. Martínez, I. Ferrer, G. Pérez-Pastor, 2008, Journal of the European Academy of Dermatology and Venereology : JEADV.

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

M. Roselló, C. Orellana, F. Martínez, 2009, Cytogenetic and Genome Research.

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

H. Hennies, E. Sprecher, F. Martínez, 2009, The Journal of investigative dermatology.

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

C. Skinner, R. Stevenson, C. Schwartz, 2003, European Journal of Human Genetics.

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)

J. Millán, C. Orellana, F. Martínez, 1999, The Journal of investigative dermatology.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

D. Blesa, M. Roselló, C. Orellana, 2010, BMC Medical Genomics.

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma

C. Orellana, F. Martínez, A. Cañete, 2009, Journal of Neuro-Oncology.

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

C. Orellana, F. Martínez, F. Prieto, 2003, Clinical genetics.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

C. Laprise, F. Martínez, C. Greenwood, 2018, Biology of Sex Differences.

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

M. Roselló, C. Orellana, F. Martínez, 2010, European journal of medical genetics.

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

F. Martínez, P. Lapunzina, E. Fernandez-Rebollo, 2012, The Journal of clinical endocrinology and metabolism.

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

F. Martínez, C. Badenas, M. Milá, 2007, Genetics in Medicine.

Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci

J. Cigudosa, D. Blesa, M. Roselló, 2007, American journal of medical genetics. Part A.

Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome.

T. McConnell, F. Martínez, T. Williams, 1984, Human pathology.

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

C. Orellana, F. Martínez, F. Prieto, 2001, Clinical genetics.

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

M. Roselló, C. Orellana, F. Martínez, 2015, BioMed Research International.

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

M. Roselló, C. Orellana, F. Martínez, 2006, Genetic testing.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos‐Machancoses et al. ( )

F. Martínez, A. Pérez-Aytés, J. V. Arcos-Machancoses, 2017, American journal of medical genetics. Part A.

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

M. Roselló, C. Orellana, F. Martínez, 2015, Pediatric Research.

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

J. Benito-León, F. Martínez, S. Mayo, 2021, International journal of molecular sciences.

Prenatal Diagnosis in Rett Syndrome

F. Martínez, E. Monrós, J. Armstrong, 2002, Fetal Diagnosis and Therapy.

De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

M. Roselló, C. Orellana, F. Martínez, 2017, International journal of genomics.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

M. Tejada, F. Martínez, C. Hernández-Chico, 2014, BioMed research international.

Silver‐Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

F. Martínez, A. Pérez-Aytés, José Vicente Arcos‐Machancoses, 2015, American journal of medical genetics. Part A.

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

M. Roselló, C. Orellana, F. Martínez, 2018, International journal of endocrinology and metabolism.

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

F. Martínez, L. Pedrola, I. Pascual-Camps, 2019, Ophthalmic genetics.

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

M. Roselló, C. Orellana, F. Martínez, 2006, The Journal of laboratory and clinical medicine.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

B. V. van Bon, K. Grzeschik, R. Happle, 2011, Experimental dermatology.

Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon

C. Romano, H. Ropers, F. Martínez, 2010, Human mutation.

Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44

M. Roselló, C. Orellana, F. Martínez, 2010, Cytogenetic and Genome Research.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

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.

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

J. Millán, F. Martínez, F. Palau, 1998, Journal of medical genetics.

There is no evidence that the SDHB gene is involved in neuroblastoma development.

C. Orellana, F. Martínez, V. Castel, 2005, Oncology research.

A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.

C. Orellana, F. Martínez, A. Cañete, 1998, Cancer genetics and cytogenetics.

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

M. Roselló, C. Orellana, F. Martínez, 2012, Journal of Human Genetics.

Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease

F. Martínez, J. Aznar, S. Haya, 2001, Annals of Hematology.

Optimizing the clinical utility of PCA3 to diagnose prostate cancer in initial prostate biopsy

F. Martínez, J. López-Guerrero, L. Esteban, 2015, BMC Cancer.

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

F. Martínez, M. Moltó, E. Monrós, 1997, American journal of human genetics.

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

J. Millán, C. Orellana, F. Martínez, 2001, American journal of medical genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

M. Roselló, C. Orellana, F. Martínez, 2019, Journal of Pediatric Genetics.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

Recombinant X chromosome in a prenatal diagnosis

M. Roselló, C. Orellana, F. Martínez, 2006, Cytogenetic and Genome Research.

A submicroscopic deletion of 11p13 associated with the WAGR syndrome

F. Martínez, J. Bilbao, L. Castaño, 2003, Clinical genetics.

A case of spanish language disorders with a rare genetic cause

M. Roselló, C. Orellana, F. Martínez, 2009 .

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males

M. Roselló, C. Orellana, F. Martínez, 2012, British journal of haematology.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

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

F. Martínez, F. Palau, A. Gal, 1995, American journal of medical genetics.

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation

F. Martínez, Ana Victoria Marco Hernández, M. Tomás Vila, 2021, Journal of Pediatric Genetics.

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

F. Martínez, Ana Victoria Marco Hernández, M. Tomás Vila, 2021, Frontiers in Neurology.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

F. Martínez, Tzung-Chien Hsieh, G. Lyon, 2023, European Journal of Human Genetics.

A subtelomeric translocation apparently implied in multiple abortions

M. Roselló, C. Orellana, F. Martínez, 2006, Journal of Assisted Reproduction and Genetics.

X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping

D. Dressman, E. Hoffman, M. Barmada, 2007, Genetics in Medicine.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.

F. Martínez, J. Aznar, J. Jorquera, 1995, Haemostasis.

INSTABILITY OF A VARIABLE NUMBER TANDEM REPEAT IN INTRON 40 OF THE HUMAN VON WILLEBRAND FACTOR GENE

F. Martínez, J. Aznar, Pilar Casanta, 1995, British journal of haematology.

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.

F. Martínez, J. Aznar, S. Haya, 2001, Haematologica.

Hemostasis & Thrombosis New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand ’ s disease

F. Martínez, J. Aznar, S. Haya, 2022 .

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

F. Martínez, J. Vílchez, F. Palau, 1999, Journal of medical genetics.

Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.

C. Orellana, F. Martínez, A. Cañete, 2004, Oncology Research.

Evidence for a Common Origin of Most Friedreich Ataxia Chromosomes in the Spanish Population

M. Koenig, J. Bertranpetit, R. Frutos, 1996, European journal of human genetics : EJHG.

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

C. Orellana, F. Martínez, M. Moltó, 2004, American Journal of Medical Genetics. Part A.

Localization of MRX82: A new nonsyndromic X‐linked mental retardation locus to Xq24‐q25 in a Basque family

C. Orellana, F. Martínez, M. Moltó, 2004, American journal of medical genetics. Part A.

A fragile X family with high penetrance in females: risk heterogeneity?

F. Martínez, F. Prieto, L. Badía, 1992, Clinical genetics.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

C. Laprise, F. Martínez, C. Greenwood, 2018, Biology of Sex Differences.

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

M. Roselló, C. Orellana, F. Martínez, 2014, Medicina clinica.

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.

F. Martínez, J. Aznar, S. Haya, 2000, British Journal of Haematology.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

M. Roselló, C. Orellana, F. Martínez, 2007, Journal of Medical Genetics.

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.

F. Martínez, J. Aznar, S. Haya, 2001, Haematologica.

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

M. Roselló, C. Orellana, F. Martínez, 2013, Molecular human reproduction.

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

J. Millán, F. Martínez, F. Palau, 2022 .