Lista de obras - Tejada MI - Dominio Público Uruguay

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 1992

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

article

A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

artículo científico publicado en 2009

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

article

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

artículo científico publicado en 2007

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

artículo científico publicado en 2016

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

artículo científico publicado en 2013

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

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

scientific article published on 02 November 2009

Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2 ⬇️

artículo científico publicado el 9 de agosto de 2010

CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

artículo científico publicado en 2006

Clinical implication of FMR1 intermediate alleles in a Spanish population.

artículo científico publicado en 2018

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Folic acid for fragile X syndrome

artículo científico publicado en 2011

Folic acid for fragile X syndrome

artículo científico publicado en 2010

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

artículo científico publicado en 2018

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

artículo científico publicado en 2009

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

artículo científico publicado en 2011

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

artículo científico publicado en 2009

L-acetylcarnitine for fragile X syndrome

artículo científico publicado en 2012

L-acetylcarnitine for treating fragile X syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2010

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

artículo científico publicado en 2013

Molecular characterization of Spanish patients with MECP2 duplication syndrome

scientific article published on 23 February 2020

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

artículo científico publicado en 2014

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

scientific article published on 02 January 2020

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et Al

artículo científico publicado en 1999

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

artículo científico publicado en 2006

Systematic review of pharmacological treatments in fragile X syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado el 25 de julio de 2013

Lista de obras de Tejada MI

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

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

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

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

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

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

Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2 ⬇️

CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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

Folic acid for fragile X syndrome

Folic acid for fragile X syndrome

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Infectious and immunologic phenotype of MECP2 duplication syndrome

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

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

L-acetylcarnitine for fragile X syndrome

L-acetylcarnitine for treating fragile X syndrome

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

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Molecular characterization of Spanish patients with MECP2 duplication syndrome

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

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

Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et Al

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Systematic review of pharmacological treatments in fragile X syndrome

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

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

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

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

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

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

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

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