Search Results - "del Carmen Chima Galán, María"
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Wildervanck syndrome: clinical case report
Published in Archivos argentinos de pediatría (01-06-2023)“…Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion…”
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Intracranial aneurysms and their clinical and genetic behaviour
Published in Cirugia y cirujanos (01-11-2015)“…Intracranial aneurysms are abnormal dilations of the cerebral arteries of unknown origin. However, some genes have been linked to their formation, as in the…”
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Effect of sodium fluoride ingestion on malondialdehyde concentration and the activity of antioxidant enzymes in rat erythrocytes
Published in International journal of molecular sciences (11-06-2010)“…Fluoride intoxication has been shown to produce diverse deleterious metabolic alterations within the cell. To determine the effects of sodium fluoride (NaF)…”
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Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene
Published in American journal of medical genetics. Part A (01-08-2015)Get full text
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Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
Published in Genes (09-04-2023)“…Ellis-van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral defects, and…”
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Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population
Published in Frontiers in genetics (15-07-2021)“…Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of…”
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Identification of Compound Heterozygous IEVC2/I Gene Variants in Two Mexican Families with Ellis–van Creveld Syndrome
Published in Genes (01-04-2023)“…Background: Ellis–van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral…”
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Síndrome de WildervancK: reporte de un caso clínico
Published in Archivos argentinos de pediatría (01-06-2023)“…RESUMEN El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o…”
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Aciduria glutárica tipo I: reporte de un caso con diagnóstico tardío
Published in Acta pediátrica de México (07-08-2023)“…ANTECEDENTES: La aciduria glutárica tipo I es un error innato del metabolismo ocasionado por variantes en GCDH que dan origen a una deficiencia de la enzima…”
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Systemic lupus erythematous and CD24v
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (01-10-2015)“…Systemic lupus erythematous is an autoimmune disease of multifactorial etiology with genetic predisposition. Its pathogenesis involved more than 100 genes…”
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Genetic variants associated to male infertility in Mexican patients
Published in Ginecologia y obstetricia de Mexico (01-05-2013)“…Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican…”
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Aneurismas intracraneales y su comportamiento clínico-genético
Published in Cirugia y cirujanos (01-11-2015)“…Los aneurismas intracraneales son dilataciones anormales de las arterias cerebrales. La etiología es desconocida, sin embargo algunos genes se han relacionado…”
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Probable association between preeclampsia/eclampsia and paternal age: a pilot study
Published in Ginecologia y obstetricia de Mexico (01-04-2011)“…The preeclampsia is a multisystemic syndrome that occupied the first cause of maternal and fetal mortality around the world. Epidemiologic studies shown both…”
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Lupus eritematoso sistémico y CD24v
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (02-11-2015)“…Antecedentes: el lupus eritematoso sistémico es un padecimiento autoinmunitario, de origen multifactorial, con predisposición genética; más de 100 genes…”
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Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
Published in Genes (09-04-2023)“…BACKGROUNDEllis-van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral…”
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