Search Results - "Moya, CM"

Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress by Moya, Christian M., Perez de Nanclares, Guiomar, Castaño, Luis, Potau, Neus, Bilbao, J. Ramón, Carrascosa, Antonio, Bargadá, María, Coya, Raquel, Martul, Pedro, Vicens-Calvet, Enric, Santisteban, Pilar

“…Context: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. Objective: The aim of this study was to…”
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Compound Heterozygous Mutations in the Thyroglobulin Gene (1143delC and 6725G→A [R2223H]) Resulting in Fetal Goitrous Hypothyroidism by Caron, Philippe, Moya, Christian M., Malet, David, Gutnisky, Viviana J., Chabardes, Bernard, Rivolta, Carina M., Targovnik, Héctor M.

“…In a 22-yr-old healthy woman, a fetal goiter was diagnosed coincidentally by ultrasound during the sixth month of gestation, and hypothyroidism was affirmed by…”
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Two Distinct Compound Heterozygous Constellations (R277X/IVS34–1G>C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis by Gutnisky, Viviana J., Moya, Christian M., Rivolta, Carina M., Domené, Sabina, Varela, Viviana, Toniolo, Jussara V., Medeiros-Neto, Geraldo, Targovnik, Héctor M.

“…In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital…”
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DIAGNÓSTICO MOLECULAR ONCOLÓGICO DE PATOLOGÍAS TIROIDEAS EN EL HOSPITAL DR. ARTURO OÑATIVIA DE LA PROVINCIA DE SALTA by Tolaba, NN, Bazzoni, P, Moya, CM, Alvi, M Monteros

“…El laboratorio de Biología Molecular del Hospital Dr. A. Oñativia fue creado con un perfil oncológico, orientado principalmente a patologías tiroideas. El…”
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A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation by Rivolta, Carina M., Moya, Christian M., Gutnisky, Viviana J., Varela, Viviana, Miralles-García, José M., González-Sarmiento, Rogelio, Targovnik, Héctor M.

“…Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular…”
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Genomic organization of the human thyroglobulin gene: the complete intron-exon structure by MENDIVE, Fernando M, RIVOLTA, Carina M, MOYA, Christian M, VASSART, Gilbert, TARGOVNIK, Héctor M

“…In order to complete the knowledge of the genomic organization of the human thyroglobulin gene, the present work was designed to establish the intron-exon…”
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Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene by Targovnik, H M, Rivolta, C M, Mendive, F M, Moya, C M, Vono, J, Medeiros-Neto, G

“…In this work we have extended our initial molecular studies of a consanguineous family with two affected goitrous siblings (H.S.N. and Ac.S.N.) with defective…”
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Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene by Rivolta, Carina M, Moya, Christian M, Mendive, Fernando M, Targovnik, Héctor M

“…The purpose of the present work was to characterize two new polymorphic microsatellite markers in the thyroglobulin gene. TGrI29 and TGrI30 repeats are located…”
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Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene by Moya, Christian M, Varela, Viviana, Rivolta, Carina M, Mendive, Fernando M, Targovnik, Héctor M

“…We identified a novel large insertion/deletion (Indel) polymorphism of 1464 bp localized in intron 18 of the human thyroglobulin gene. Data from sequence…”
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Genomic organization of the 5' region of the human thyroglobulin gene by MOYA, Christian M, MENDIVE, Fernando M, RIVOLTA, Carina M, VASSART, Gilbert, TARGOVNIK, Héctor M

“…The purpose of the present work is to establish the intron-exon organization from exon 12 to exon 23 of the human thyroglobulin gene and to construct a…”
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The thyroid as a model for molecular mechanisms in genetic diseases by Rivolta, Carina M, Moya, Christian M, Esperante, Sebastian A, Gutnisky, Viviana J, Varela, Viviana, Targovnik, Hector M

“…Thyroid diseases constitute a heterogeneous collection of abnormalities associated with mutations in genes responsible for the development of thyroid: thyroid…”
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Parasitisation by Bathycreadium elongatum (Digenea, Opecoelidae) in pyloric caeca of Trachyrincus scabrus (Teleostei, Macrouridae) by CONSTENLA, M, CARRASSON, M, MOYA, C. M, FERNANDEZ-CHACON, A, PADROS, F, REPULLES-ALBELDA, A, MONTERO, F. E

“…A novel process of transmural passive displacement of a digenean parasite was studied in the digestive tract of the roughsnout grenadier Trachyrincus scabrus,…”
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