List of works - Miguel Angel Alcántara-Ortigoza

5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate

scientific article published on 24 January 2014

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

scientific article

Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos

scientific article published on 20 November 2012

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis.

scientific article published on September 2013

Case report of renal tubular acidosis and misdiagnosed.

scientific article

Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome

scientific article published on 6 February 2015

Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial.

scientific article published on 29 October 2015

Erratum to: Germline Mutations in NKX2-5, GATA4, and CRELD1 are Rare in a Mexican Sample of Down Syndrome Patients with Endocardial Cushion and Septal Heart Defects

scientific article published on 01 October 2015

Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient

scientific article published on 24 October 2019

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.

scientific article

Expression of RUNX1 isoforms and its target gene BLK in childhood acute lymphoblastic leukemia

scientific article published on 29 June 2012

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival

scientific article published in May 2018

Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans.

scientific article published on 6 May 2016

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

scientific article published on 26 February 2021

Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene.

scientific article published on 16 November 2013

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects

scientific article published on 19 December 2014

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

scientific article published on 01 July 2018

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

scientific article published on 29 October 2008

Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases

scientific article published on 24 October 2017

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

scientific article published on 01 January 2012

Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene

scientific article published on 20 December 2018

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients

scientific article published on 20 November 2018

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

scientific article

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

scientific article published on 30 September 2019

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico

scientific article published on 21 April 2018

Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants

scientific article published in January 2017

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect

scientific article published on 26 July 2014

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

scientific article published on 29 October 2019

Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene

scientific article published on 29 March 2010

Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome

article

Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.

scientific article published in December 2009

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

scientific article published on 17 November 2017

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

publication published on 19 May 2022

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome

scientific article published on 09 February 2016

List of works by Miguel Angel Alcántara-Ortigoza

5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis.

Case report of renal tubular acidosis and misdiagnosed.

Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome

Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial.

Erratum to: Germline Mutations in NKX2-5, GATA4, and CRELD1 are Rare in a Mexican Sample of Down Syndrome Patients with Endocardial Cushion and Septal Heart Defects

Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.

Expression of RUNX1 isoforms and its target gene BLK in childhood acute lymphoblastic leukemia

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival

Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans.

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene.

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico

Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene

Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome

Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome