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Clinical implication of FMR1 intermediate alleles in a Spanish population

Clinical genetics, 2018-07, Vol.94 (1), p.153-158

2018

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing

International journal of laboratory hematology, 2016-12, Vol.38 (6), p.629-638

2016

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Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the basque country with respect to the spanish population : implications for genetic counselling

Breast cancer research and treatment, 2007-12, Vol.106 (2), p.255-262

2007

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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

Clinical genetics, 2010-01, Vol.77 (1), p.60-69

2010

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

Clinical genetics, 2006-08, Vol.70 (2), p.140-144

2006

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Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study

Clinical genetics, 2009-06, Vol.75 (6), p.576-578

2009

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

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

BMC genomics, 2007-11, Vol.8 (1), p.443-443, Article 443

2007

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LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

Familial cancer, 2010-09, Vol.9 (3), p.289-290

2010

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Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country

Journal of medical genetics, 1998-05, Vol.35 (5), p.387-390

1998

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Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome

Journal of medical genetics, 1994-01, Vol.31 (1), p.76-78

1994

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Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs

Fertility and sterility, 1991-11, Vol.56 (5), p.874-880

1991

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A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

Prenatal diagnosis, 1992-06, Vol.12 (6), p.529-534

1992

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

The lancet oncology, 2023-01, Vol.24 (1), p.91-106

2023

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Human mutation, 2015-12, Vol.36 (12), p.1197-1204

2015

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Remission, response, retention and persistence to treatment with disease-modifying agents in patients with rheumatoid arthritis: a study of harmonised Swedish, Danish and Norwegian cohorts

Rheumatic & musculoskeletal diseases open, 2023-09, Vol.9 (3), p.e003027

2023

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Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects

Revista de neurologiá, 2001-10, Vol.33 Suppl 1, p.S14-S19

Tejada, M I

2001

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Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models

RNA (Cambridge), 2007-05, Vol.13 (5), p.756-762

2007

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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2363-2368

2013

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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Effect of Boron Foliar Application on Reproductive Growth of Sunflower (Helianthus annuus L.)

International Journal of Agronomy, 2011-01, Vol.2011, p.1-5

2011

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Deletion of chromosome 4: 46,XY, del (4) (q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer

Fertility and sterility, 1990-11, Vol.54 (5), p.953-954

1990

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Guía clínica de las enfermedades asociadas al gen FMR1 : síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia

Medicina clínica, 2014-03, Vol.142 (5), p.219-225

2014

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Castor (Ricinus communis L.) Tolerance to Postemergence Herbicides and Weed Control Efficacy

International Journal of Agronomy, 2012-01, Vol.2012, p.1-5

2012

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Clinical implication of FMR1 intermediate alleles in a Spanish population

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the basque country with respect to the spanish population : implications for genetic counselling

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

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

Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

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

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country

Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome

Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Remission, response, retention and persistence to treatment with disease-modifying agents in patients with rheumatoid arthritis: a study of harmonised Swedish, Danish and Norwegian cohorts

Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome

Effect of Boron Foliar Application on Reproductive Growth of Sunflower (Helianthus annuus L.)

Deletion of chromosome 4: 46,XY, del (4) (q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer

Guía clínica de las enfermedades asociadas al gen FMR1 : síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia

Castor (Ricinus communis L.) Tolerance to Postemergence Herbicides and Weed Control Efficacy

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