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List of works by Laura E Martínez-Garza

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

scientific article published on 09 August 2018

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

scientific article published on 03 April 2014

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

scientific article published on 10 January 2013

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

scientific article

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

scientific article published on 05 June 2014

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

scientific article published on 22 July 2019

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

scientific article published on October 2016

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

scientific article published on 9 February 2016

Cultivation of mouse embryos explanted at 11 days

scientific article published on 01 October 1982

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

scientific article published on 23 December 2014

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

scientific article published on 19 October 2016

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

scientific article published on 01 October 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

scientific article published on 01 January 1990

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

scientific article published in September 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

scientific article published on 10 July 2020

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

scientific article published on 15 January 2018

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

scientific article published in July 2001

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

scientific article

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

scientific article

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

scientific article published on 17 March 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.

scientific article published on 22 December 2016

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

scientific article published on 17 February 2015

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

scientific article

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

scientific article published in March 2001

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

scientific article published on 01 September 1994

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

scientific article published on 25 August 2017

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

scientific article published on 12 June 2015

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

scientific article

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

scientific article

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

scientific article published on 12 December 2017

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

scientific article published on 27 November 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)

scientific article (publication date: 2017)

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

scientific article published on 16 April 2017

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

scientific article

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

scientific article published on 20 October 2017

Vitamin D deficiency in Mexican mothers and their newborns.

scientific article published in January 2017

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