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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Disposición al ahorro de energía eléctrica en los hogares de México.
- Published in:
- Estudios Demográficos y Urbanos, 2021, v. 36, n. 2, p. 533, doi. 10.24201/edu.v36i2.2002
- By:
- Publication type:
- Article
Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial.
- Published in:
- Nutrients, 2015, v. 7, n. 11, p. 8939, doi. 10.3390/nu7115442
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- Publication type:
- Article
Identification of a novel pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
- Published in:
- 2018
- By:
- Publication type:
- case study
Síndrome de Menkes.
- Published in:
- Boletín Médico del Hospital Infantil de México, 2002, v. 59, n. 6, p. 365
- By:
- Publication type:
- Article
Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14643, doi. 10.3390/ijms241914643
- By:
- Publication type:
- Article
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.01049
- By:
- Publication type:
- Article
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1676, doi. 10.3390/genes12111676
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- Publication type:
- Article
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.
- Published in:
- Genes, 2019, v. 10, n. 11, p. 856, doi. 10.3390/genes10110856
- By:
- Publication type:
- Article
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.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
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.
- Published in:
- Pediatric Cardiology, 2015, v. 36, n. 4, p. 802, doi. 10.1007/s00246-014-1091-3
- By:
- Publication type:
- Article
A Patient with Trisomy 13 Mosaicism with an Unusual Skin Pigmentary Pattern and Prolonged Survival.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2021, v. 58, n. 9, p. 1128, doi. 10.1177/1055665620980238
- By:
- Publication type:
- Article
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 5, p. 574, doi. 10.1111/cge.12738
- By:
- Publication type:
- Article
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444
- By:
- Publication type:
- Article
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62759-5
- By:
- Publication type:
- Article
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051268
- By:
- Publication type:
- Article
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
- Published in:
- Nefrologia, 2020, v. 40, n. 1, p. 91, doi. 10.1016/j.nefro.2019.03.003
- By:
- Publication type:
- Article
Tumor de cordón sexual con túbulos anulares y cistadenoma mucinoso de ovario en una adolescente con síndrome de Peutz-Jeghers.
- Published in:
- Acta Pediatrica de Mexico, 2020, v. 41, n. 4, p. 178, doi. 10.18233/APM-41No4pp178-1862098
- By:
- Publication type:
- Article
Aspectos generales y panorama actual del estudio molecular de la fenilcetonuria (PKU) en México.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 324
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- Publication type:
- Article
Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría.
- Published in:
- Acta Pediatrica de Mexico, 2010, v. 31, n. 6, p. 297
- By:
- Publication type:
- Article
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.993612
- By:
- Publication type:
- Article
Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?
- Published in:
- Children, 2024, v. 11, n. 6, p. 712, doi. 10.3390/children11060712
- By:
- Publication type:
- Article
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
- Published in:
- Children, 2023, v. 10, n. 12, p. 1865, doi. 10.3390/children10121865
- By:
- Publication type:
- Article
Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2 -Related Tuberous Sclerosis Complex.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1614, doi. 10.3390/children10101614
- By:
- Publication type:
- Article
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
- Published in:
- Children, 2021, v. 8, n. 6, p. 1, doi. 10.3390/children8060457
- By:
- Publication type:
- Article
Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso.
- Published in:
- Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2021, v. 8, p. 24, doi. 10.24875/RME.M22000022
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- Publication type:
- Article
Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.
- Published in:
- 2009
- By:
- Publication type:
- Journal Article
Thiopurine S-methyltransferase ( TPMT) genetic polymorphisms in Mexican newborns.
- Published in:
- Journal of Clinical Pharmacy & Therapeutics, 2009, v. 34, n. 6, p. 703, doi. 10.1111/j.1365-2710.2009.01058.x
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- Publication type:
- Article
Duplication 2p and Monosomy 8p in mosaicism: clinical, molecular cytogenetic and molecular markers of a unique case.
- Published in:
- Clinical & Translational Investigation / Revista de Investigación Clínica, 2007, v. 59, n. 6, p. 444
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- Publication type:
- Article
Fibrosis quística: la frontera del conocimiento molecular y sus aplicaciones clínicas.
- Published in:
- Clinical & Translational Investigation / Revista de Investigación Clínica, 2006, v. 58, n. 2, p. 139
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- Publication type:
- Article
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
- Published in:
- 2008
- By:
- Publication type:
- Report
SAIPO-TAIPO and Genetic Algorithms for Investment Portfolios.
- Published in:
- Axioms (2075-1680), 2022, v. 11, n. 2, p. 42, doi. 10.3390/axioms11020042
- By:
- Publication type:
- Article
Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
- Published in:
- Journal of Medical Screening, 2018, v. 25, n. 3, p. 119, doi. 10.1177/0969141317722808
- By:
- Publication type:
- Article
5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate.
- Published in:
- European Journal of Oral Sciences, 2014, v. 122, n. 2, p. 109, doi. 10.1111/eos.12114
- By:
- Publication type:
- Article
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0438-0
- By:
- Publication type:
- Article
Diagnóstico citogenético en aborto espontáneo del primer trimestre.
- Published in:
- Ginecología y Obstetricia de México, 2011, v. 79, n. 12, p. 779
- By:
- Publication type:
- Article
Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 11, p. 1723, doi. 10.3390/life12111723
- By:
- Publication type:
- Article
Deletion of Exon 1 of the SLC16A2 Gene: A Common Occurrence in Patients with Allan-Herndon-Dudley Syndrome.
- Published in:
- Thyroid, 2015, v. 25, n. 3, p. 361, doi. 10.1089/thy.2014.0284
- By:
- Publication type:
- Article
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
- Published in:
- Journal of Cutaneous Pathology, 2023, v. 50, n. 6, p. 481, doi. 10.1111/cup.14340
- By:
- Publication type:
- Article
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 5, p. 349, doi. 10.1034/j.1399-0004.2002.610505.x
- By:
- Publication type:
- Article
Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1515, doi. 10.1002/ajmg.a.62678
- By:
- Publication type:
- Article
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 118, doi. 10.1002/ajmg.a.60676
- By:
- Publication type:
- Article
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1225, doi. 10.1002/ajmg.a.38660
- By:
- Publication type:
- Article
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 161, doi. 10.1002/ajmg.a.38526
- By:
- Publication type:
- Article
Expansion of the Variable Expression of Muenke Syndrome: Hydrocephalus without Craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3189, doi. 10.1002/ajmg.a.37951
- By:
- Publication type:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3207, doi. 10.1002/ajmg.a.35641
- By:
- Publication type:
- Article
Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 1, p. e53, doi. 10.1111/jdv.16795
- By:
- Publication type:
- Article
Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2019, v. 33, n. 12, p. 2334, doi. 10.1111/jdv.15918
- By:
- Publication type:
- Article