Lista de obras - Luis E Figuera - Dominio Público Uruguay

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

article

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

article

Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24).

artículo científico publicado en 2005

Ambral syndrome and congenital generalized hypertrichosis

artículo científico publicado en 1994

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

artículo científico publicado en 2016

Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).

artículo científico publicado en 2016

Association between polymorphisms of the androgen and vitamin D receptor genes with prostate cancer risk in a Mexican population

artículo científico publicado en 2007

Association between the Xba I polymorphism of APOB gene and plasma lipid level in Mexican patients with coronary artery disease

artículo científico publicado en 2012

Association of TP53 gene codon 72 polymorphism with endometriosis in Mexican women

artículo científico publicado en 2012

Association of beta-defensin 1 single nucleotide polymorphisms with atopic dermatitis.

artículo científico publicado en 2006

Association of the 677C -->T polymorphism in the MTHFR gene with colorectal cancer in Mexican patients.

artículo científico publicado en 2009

Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population.

artículo científico publicado en 2015

Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with breast cancer in a Mexican population

artículo científico publicado en 2015

Association of the Del1518 Promoter (rs3730485) Polymorphism in the MDM2 Gene with Breast Cancer in a Mexican Population

artículo científico publicado en 2017

Association of the FTO gene SNP rs17817449 with body fat distribution in Mexican women

artículo científico publicado en 2014

Association of the GSTM1 null polymorphism with breast cancer in a Mexican population.

artículo científico publicado en 2015

Association of the tumor necrosis factor-alpha -308G>A polymorphism with breast cancer in Mexican women.

artículo científico publicado en 2013

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients

artículo científico publicado en 2020

CYP1A1 2B and 4 polymorphisms are associated with lung cancer susceptibility in Mexican patients

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

artículo científico publicado en 2017

Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

scientific article published on 11 May 2012

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome

scientific article published on 01 March 1997

Contribution of GSTM1, GSTT1, and MTHFR polymorphisms to end-stage renal disease of unknown etiology in Mexicans.

artículo científico publicado en 2013

Current genetic issues and phenotypic variants in Kallmann syndrome

artículo científico publicado el 1 de marzo de 2012

Cytochrome P4501A1 polymorphism is associated with susceptibility to acute lymphoblastic leukemia in adult Mexican patients

scientific article published on 01 November 2004

De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.

artículo científico publicado en 2012

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome

artículo científico publicado en 2017

Distribution of CYP1A1*2A polymorphism in adult patients with acute lymphoblastic leukemia in a Mexican population.

artículo científico publicado en 2008

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

artículo científico publicado en 2010

Faciocardiorenal syndrome: a wide clinical spectrum?

artículo científico publicado en 2012

Floating-Harbor syndrome. A neuropsychological approach

scientific article published on 01 January 1996

Generalized hypertrichosis syndromes in Mexico

artículo científico publicado en 2020

Genetic contribution of CYP2C9, CYP2C19, and APOE variants in acenocoumarol response.

artículo científico publicado en 2013

Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin

artículo científico publicado en 2011

Guadalajara camptodactyly syndrome type I. A corroborative family.

artículo científico publicado en 1993

Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

artículo científico publicado en 2002

Haplotypes Eco47 III-Nsp I sites frequencies on the IDUA gene in Mexican native population

scientific article published on 01 January 2005

Heteroallelic monozygotic twins and triplets ⬇️

artículo científico publicado el 1 de mayo de 1998

Hyperkeratosis-hyperpigmentation syndrome: a confirmative case

scientific article published on 01 February 1993

Increased homocysteine plasma levels in breast cancer patients of a Mexican population

Inherited hypertrichoses.

artículo científico publicado en 2002

Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly

scientific article published on 01 January 1996

Interstitial deletion of 13q22-->q31: case report and review of the literature.

artículo científico publicado en 2006

Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women

artículo científico publicado en 2013

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

artículo científico publicado en 1993

Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I

scientific article published on 01 September 1999

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1 ⬇️

artículo científico publicado el 1 de junio de 1995

Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia.

artículo científico publicado en 2005

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

artículo científico publicado en 1996

Molecular characterization of the fragile-X syndrome in the Mexican population.

artículo científico publicado en 1995

Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients

artículo científico publicado en 1997

Mutational analysis of the GLA gene in Mexican families with Fabry disease.

artículo científico publicado en 2017

Opposite imbalances of distal 14q in two unrelated patients

artículo científico publicado en 1992

Oral-facial-digital syndrome with fibular aplasia: a new variant.

artículo científico publicado en 1993

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

artículo científico publicado en 2014

Polymorphisms C677T and A1298C in the MTHFR gene in Mexican patients with rheumatoid arthritis treated with methotrexate: implication with elevation of transaminases.

artículo científico publicado en 2010

Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.

artículo científico publicado en 2014

Role of toll-interacting protein gene polymorphisms in leprosy Mexican patients.

artículo científico publicado en 2013

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS

artículo científico publicado en 2016

SNPs in human beta-defensin 1 gene (DEFB1): frequencies in a Mexican population and new PCR-RFLPs assays.

artículo científico publicado en 2006

Schwartz-Jampel syndrome: an atypical form?

scientific article published on 01 September 1993

Severe Craniofacial Involvement due to Amniotic Band Sequence

artículo científico publicado en 2018

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

artículo científico publicado en 1994

TYMS 2R3R polymorphism and DPYD [IVS]14+1G>A gene mutation in Mexican colorectal cancer patients

artículo científico publicado en 2018

Terminal deletion of the short arm of chromosome 3

scientific article published on 01 January 1994

The 14 bp Del/Ins HLA-G polymorphism is related with high blood pressure in acute coronary syndrome and type 2 diabetes mellitus.

scientific article published on 06 February 2014

The Myhre syndrome: report of two cases.

artículo científico publicado en 1993

The TP53 16-bp duplication polymorphism is enriched in endometriosis patients.

artículo científico publicado en 2012

The association between the 844ins68 polymorphism in the CBS gene and breast cancer

artículo científico publicado en 2014

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case

artículo científico publicado el 1 de enero de 2010

Therapeutic goals in the treatment of Fabry disease.

artículo científico publicado en 2010

Translocation/duplication of 9p onto a duplicated 4q

artículo científico publicado en 1992

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

artículo científico publicado en 2017

Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses

scientific article published on 01 September 2000

Virtual molecular medicine in developing countries: the Mexican initiative

scientific article published on 01 May 2000

Wayward effect of polymorphism (TA)8 in the promoter region of UGT1A1 gene in a Mexican family

artículo científico publicado en 2012

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

artículo científico publicado en 2011

Y-chromosome haplotypes for six short tandem repeats (STRs) in a Mexican population

artículo científico publicado en 2001

Y-linked haplotypes in Amerindian chromosomes from Mexican populations: genetic evidence to the dual origin of the Huichol tribe

artículo científico publicado en 2006

[Detection of Mycobacterium tuberculosis by polymerase chain reaction in a selected population in northwestern Mexico]

artículo científico publicado en 2000

[Ophthalmic manifestations in Mexican patients with Fabry disease]

artículo científico publicado en 2012

[Severe neonatal primary hyperparathyroidism: presentation of a case and review of the literature]

scientific article published on 01 January 1989

[The contribution of Latin America to the knowledge of the human genome]

artículo científico publicado en 1993

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease.

artículo científico publicado en 2016

Lista de obras de Luis E Figuera

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24).

Ambral syndrome and congenital generalized hypertrichosis

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).

Association between polymorphisms of the androgen and vitamin D receptor genes with prostate cancer risk in a Mexican population

Association between the Xba I polymorphism of APOB gene and plasma lipid level in Mexican patients with coronary artery disease

Association of TP53 gene codon 72 polymorphism with endometriosis in Mexican women

Association of beta-defensin 1 single nucleotide polymorphisms with atopic dermatitis.

Association of the 677C -->T polymorphism in the MTHFR gene with colorectal cancer in Mexican patients.

Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population.

Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with breast cancer in a Mexican population

Association of the Del1518 Promoter (rs3730485) Polymorphism in the MDM2 Gene with Breast Cancer in a Mexican Population

Association of the FTO gene SNP rs17817449 with body fat distribution in Mexican women

Association of the GSTM1 null polymorphism with breast cancer in a Mexican population.

Association of the tumor necrosis factor-alpha -308G>A polymorphism with breast cancer in Mexican women.

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients

CYP1A1 *2B and *4 polymorphisms are associated with lung cancer susceptibility in Mexican patients

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome

Contribution of GSTM1, GSTT1, and MTHFR polymorphisms to end-stage renal disease of unknown etiology in Mexicans.

Current genetic issues and phenotypic variants in Kallmann syndrome

Cytochrome P4501A1 polymorphism is associated with susceptibility to acute lymphoblastic leukemia in adult Mexican patients

De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome

Distribution of CYP1A1*2A polymorphism in adult patients with acute lymphoblastic leukemia in a Mexican population.

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

Faciocardiorenal syndrome: a wide clinical spectrum?

Floating-Harbor syndrome. A neuropsychological approach

Generalized hypertrichosis syndromes in Mexico

Genetic contribution of CYP2C9, CYP2C19, and APOE variants in acenocoumarol response.

Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin

Guadalajara camptodactyly syndrome type I. A corroborative family.

Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

Haplotypes Eco47 III-Nsp I sites frequencies on the IDUA gene in Mexican native population

Heteroallelic monozygotic twins and triplets ⬇️

Hyperkeratosis-hyperpigmentation syndrome: a confirmative case

Increased homocysteine plasma levels in breast cancer patients of a Mexican population

Inherited hypertrichoses.

Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly

Interstitial deletion of 13q22-->q31: case report and review of the literature.

Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1 ⬇️

Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia.

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

Molecular characterization of the fragile-X syndrome in the Mexican population.

Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients

Mutational analysis of the GLA gene in Mexican families with Fabry disease.

Opposite imbalances of distal 14q in two unrelated patients

Oral-facial-digital syndrome with fibular aplasia: a new variant.

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

Polymorphisms C677T and A1298C in the MTHFR gene in Mexican patients with rheumatoid arthritis treated with methotrexate: implication with elevation of transaminases.

Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.

Role of toll-interacting protein gene polymorphisms in leprosy Mexican patients.

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS

SNPs in human beta-defensin 1 gene (DEFB1): frequencies in a Mexican population and new PCR-RFLPs assays.

Schwartz-Jampel syndrome: an atypical form?

Severe Craniofacial Involvement due to Amniotic Band Sequence

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

TYMS 2R3R polymorphism and DPYD [IVS]14+1G>A gene mutation in Mexican colorectal cancer patients

Terminal deletion of the short arm of chromosome 3

The 14 bp Del/Ins HLA-G polymorphism is related with high blood pressure in acute coronary syndrome and type 2 diabetes mellitus.

The Myhre syndrome: report of two cases.

The TP53 16-bp duplication polymorphism is enriched in endometriosis patients.

The association between the 844ins68 polymorphism in the CBS gene and breast cancer

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case

Therapeutic goals in the treatment of Fabry disease.

Translocation/duplication of 9p onto a duplicated 4q

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses

Virtual molecular medicine in developing countries: the Mexican initiative

Wayward effect of polymorphism (TA)8 in the promoter region of UGT1A1 gene in a Mexican family

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

Y-chromosome haplotypes for six short tandem repeats (STRs) in a Mexican population

Y-linked haplotypes in Amerindian chromosomes from Mexican populations: genetic evidence to the dual origin of the Huichol tribe

CYP1A1 2B and 4 polymorphisms are associated with lung cancer susceptibility in Mexican patients