Lista de obras - Laura E Martínez-Garza - Dominio Público Uruguay

A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis

artículo científico publicado en 2018

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

artículo científico publicado en 2014

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21

artículo científico publicado en 2013

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

artículo científico publicado en 2010

An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients

artículo científico publicado en 2014

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study

artículo científico publicado en 2019

Association of the polymorphism 12109g>A from the REN gene as a risk factor for preterm birth.

artículo científico publicado en 2016

Candidate gene polymorphisms and risk of psoriasis: A pilot study.

artículo científico publicado en 2016

Cultivation of mouse embryos explanted at 11 days

artículo científico publicado en 1982

Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes

artículo científico publicado en 2014

Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy

artículo científico publicado en 2016

Effect of toxins 544 and 514 from Karwinskia humboldtiana (buckthorn) plant upon fetal development of the mouse

artículo científico publicado en 1993

Effects of hormones on postimplantation mouse embryos in vitro. II. Progesterone and estrogen

scientific article published on 01 December 1982

Effects of toxin T-544 from the Karwinskia humboldtiana (buckthorn) plant upon mouse embryos explanted at 11 days

artículo científico publicado en 1990

Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility.

artículo científico publicado en 2017

Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome

scientific article published on 07 May 2020

Expression profile of microRNAs in the testes of patients with Klinefelter syndrome

artículo científico publicado en 2020

Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution

artículo científico publicado en 2018

Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study

artículo científico publicado en 2001

Folic acid levels, homocysteine and polymorphism of methylenetetrahydrofolate reductase enzyme (MTHFR) in patients with pre-eclampsia and eclampsia

artículo científico publicado en 2001

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico

artículo científico publicado en 2014

Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?

artículo científico publicado en 2018

Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study.

artículo científico publicado en 2016

Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome

artículo científico publicado en 2015

Impact of an exercise program on acylcarnitines in obesity: a prospective controlled study

artículo científico publicado en 2012

Impact of weekly administration of folic acid on folic acid blood levels

artículo científico publicado en 2001

In vitro selective toxicity of toxin T-514 from Karwinskia humboldtiana (buckthorn) plant on various human tumor cell lines

artículo científico publicado en 1994

Molecular cloning of the myo-inositol oxygenase gene from the kidney of baboons.

artículo científico publicado en 2017

Molecular evolution and expression profile of the chemerine encoding gene RARRES2 in baboon and chimpanzee

artículo científico publicado en 2015

Olfactomedin-like 2 A and B (OLFML2A and OLFML2B) expression profile in primates (human and baboon)

artículo científico publicado en 2016

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

artículo científico publicado en 2010

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

artículo científico publicado en 2017

Plasma and urine metabolic profiles are reflective of altered beta-oxidation in non-diabetic obese subjects and patients with type 2 diabetes mellitus

artículo científico publicado en 2014

Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients

scientific article published on 01 July 2018

Profiles of Amino Acids and Acylcarnitines Related with Insecticide Exposure in Culex quinquefasciatus (Say)

artículo científico publicado en 2017

Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology

artículo científico publicado en 2017

Reference values for amino acids and acylcarnitines in peripheral blood in Quarter horses and American Miniature horses

artículo científico publicado en 2015

Should the dose of folic acid be adjusted for Mexican population? The pilot prevention program implemented in Nuevo Leon, Mexico

artículo científico publicado en 2017

Vitamin D deficiency in Mexican mothers and their newborns.

artículo científico publicado en 2017

Lista de obras de Laura E Martínez-Garza

A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study

Association of the polymorphism 12109g>A from the REN gene as a risk factor for preterm birth.

Candidate gene polymorphisms and risk of psoriasis: A pilot study.

Cultivation of mouse embryos explanted at 11 days

Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes

Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy

Effect of toxins 544 and 514 from Karwinskia humboldtiana (buckthorn) plant upon fetal development of the mouse

Effects of hormones on postimplantation mouse embryos in vitro. II. Progesterone and estrogen

Effects of toxin T-544 from the Karwinskia humboldtiana (buckthorn) plant upon mouse embryos explanted at 11 days

Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility.

Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome

Expression profile of microRNAs in the testes of patients with Klinefelter syndrome

Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution

Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study

Folic acid levels, homocysteine and polymorphism of methylenetetrahydrofolate reductase enzyme (MTHFR) in patients with pre-eclampsia and eclampsia

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico

Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?

Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study.

Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome

Impact of an exercise program on acylcarnitines in obesity: a prospective controlled study

Impact of weekly administration of folic acid on folic acid blood levels

In vitro selective toxicity of toxin T-514 from Karwinskia humboldtiana (buckthorn) plant on various human tumor cell lines

Molecular cloning of the myo-inositol oxygenase gene from the kidney of baboons.

Molecular evolution and expression profile of the chemerine encoding gene RARRES2 in baboon and chimpanzee

Olfactomedin-like 2 A and B (OLFML2A and OLFML2B) expression profile in primates (human and baboon)

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Plasma and urine metabolic profiles are reflective of altered beta-oxidation in non-diabetic obese subjects and patients with type 2 diabetes mellitus

Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients

Profiles of Amino Acids and Acylcarnitines Related with Insecticide Exposure in Culex quinquefasciatus (Say)

Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology

Reference values for amino acids and acylcarnitines in peripheral blood in Quarter horses and American Miniature horses

Should the dose of folic acid be adjusted for Mexican population? The pilot prevention program implemented in Nuevo Leon, Mexico

Vitamin D deficiency in Mexican mothers and their newborns.