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1Academic Journal
المؤلفون: Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D Bruque, Noemí Buzzalino, Mirta Stivel, Nora R Ceballos, Liliana Dain
المصدر: PLoS ONE, Vol 9, Iss 3, p e92181 (2014)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain
المصدر: PLoS ONE, Vol 6, Iss 1, p e15899 (2011)
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Lucía Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Solari, Carlos Bruque, Marisol Delea, Susana Belli, Cecilia Fernández, Noemí Buzzalino, Eduardo Charreau, Liliana Dain
المصدر: Genes; Volume 8; Issue 8; Pages: 194
مصطلحات موضوعية: primary ovarian insufficiency, FXPOI, FMR1 premutation, FMR2 microdeletions, premature menopause
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes8080194
الاتاحة: https://doi.org/10.3390/genes8080194
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4
المؤلفون: Adriana Oneto, Liliana Alba, Mirta Stivel, Melisa Taboas, Susana Belli, Liliana Dain, Noemí Buzzalino, Lucía D. Espeche, Carlos David Bruque, Belén Benavides-Mori, Marisol Delea, Cecilia Fernández, Titania Pasqualini, Jorge E. Kolomenski
المصدر: Clinical Endocrinology. 93:19-27
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Multiplex ligation-dependent probe amplification, Allele, education, Gene, Alleles, Southern blot, Genetics, education.field_of_study, Adrenal Hyperplasia, Congenital, biology, 21-Hydroxylase, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Mutation, biology.protein, Steroid 21-Hydroxylase
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5Academic JournalIsolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
المؤلفون: Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain
المصدر: Case Reports in Genetics, Vol 2013 (2013)
Relation: http://dx.doi.org/10.1155/2013/143781; https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552; https://doaj.org/article/f220b5a296584481b5fab7d2a1074d25
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6
المؤلفون: Cecilia Fernández, Marisol Delea, Liliana Dain, Carlos David Bruque, Leandro Simonetti, Lucía D. Espeche, Alejandro D. Nadra, Jorge E. Kolomenski, Belén Benavides-Mori, Noemí Buzzalino
المصدر: Human Mutation. 39:5-22
مصطلحات موضوعية: 0301 basic medicine, CIENCIAS MÉDICAS Y DE LA SALUD, dbSNP, Genotype, Genetic counseling, Genética Humana, 030209 endocrinology & metabolism, 21-HYDROXYLASE DEFICIENCY, Disease, Biology, medicine.disease_cause, computer.software_genre, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetic variation, Genetics, medicine, Humans, Congenital adrenal hyperplasia, GENETIC VARIANTS, Allele, Alleles, Genetic Association Studies, Genetics (clinical), CONGENITAL ADRENAL HYPERPLASIA, GENOTYPE–PHENOTYPE CORRELATION, Mutation, Adrenal Hyperplasia, Congenital, Database, Genetic Variation, medicine.disease, CYP21A2, Medicina Básica, Phenotype, 030104 developmental biology, Steroid 21-Hydroxylase, computer
وصف الملف: application/pdf
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7
المؤلفون: Tania Castro, Mariel Ormazabal, Noemí Buzzalino, Andrea Solari, Lucía D. Espeche
المصدر: Archivos Argentinos de Pediatria. 117
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Locus (genetics), Late onset, Biology, medicine.disease, nervous system diseases, Fragile X syndrome, Pediatrics, Perinatology and Child Health, Intellectual disability, DNA methylation, medicine, Gene silencing, Intention tremor, medicine.symptom
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8
المؤلفون: Jaen Oliveri, Sandra Rozental, Viviana Cosentino, Claudina Picon, Norma Tolaba, Lilian Furforo, Celeste Martinoli, Boris Groisman, Lucía D. Espeche, Lucía S. Massara, Pablo Barbero, Viviana Gutnisky, Marisol Delea, Carlos David Bruque, Paloma Brun, Myriam Perez, Monica Rittler, María Eugenia Ponce Zaldua, Rosa Liascovich, Noemí Buzzalino, María Paz Bidondo, Silvia Ávila, Liliana Dain
المصدر: Genes
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9مصطلحات موضوعية: 0301 basic medicine, TBX1, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Disease, conotruncal congenital heart defects, Article, 03 medical and health sciences, 22q11 Deletion Syndrome, Genetics, Medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, Genetics (clinical), business.industry, 22q11 deletion, Transposition of the great vessels, medicine.disease, lcsh:Genetics, 030104 developmental biology, copy number variations, Great arteries, Etiology, cardiovascular system, business
وصف الملف: application/pdf
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9[Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]
المؤلفون: Mariel, Ormazábal, Andrea, Solari, Lucía, Espeche, Tania, Castro, Noemí, Buzzalino, Liliana, Dain
المصدر: Archivos argentinos de pediatria. 117(3)
مصطلحات موضوعية: Adult, Family Health, Male, Adolescent, Middle Aged, Fragile X Mental Retardation Protein, Young Adult, Case-Control Studies, Child, Preschool, Fragile X Syndrome, Intellectual Disability, Mutation, Tremor, Humans, Ataxia, Female, Child, Aged
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10
المصدر: Archivos Argentinos de Pediatria. 111:e35-e38
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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11
المؤلفون: Cecilia Fernández, Carlos David Bruque, Melisa Taboas, Juan Victoriano Orza, Alejandro D. Nadra, Marisol Delea, Liliana Alba, Liliana Dain, Andrea Solari, Veronica Luccerini, Lucía D. Espeche, Noemí Buzzalino
المصدر: Scientific Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Protein Conformation, Otras Ciencias Biológicas, Mutant, Predictive medicine, Stability variants, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, purl.org/becyt/ford/1 [https], Ciencias Biológicas, 03 medical and health sciences, Structure-Activity Relationship, Genetic variation, Genetics, medicine, Coding region, Humans, Congenital adrenal hyperplasia, Computer Simulation, Structure-based activity prediction, purl.org/becyt/ford/1.6 [https], Gene, Mutation, Multidisciplinary, Adrenal Hyperplasia, Congenital, Protein Stability, Genetic Variation, medicine.disease, Phenotype, 030104 developmental biology, Steroid 21-Hydroxylase, CIENCIAS NATURALES Y EXACTAS
وصف الملف: application/pdf
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12
المؤلفون: Titania Pasqualini, Guillermo Alonso, Rosángela Tomasini, Ana María Galich, Noemí Buzzalino, Cecilia Fernández, Carolina Minutolo, Liliana Alba, Liliana Dain
المصدر: Medicina (Buenos Aires), Vol 67, Iss 3, Pp 253-261 (2007)
مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Genética molecular, Congenital adrenal hyperplasia molecular genetics, Hiperplasia suprarrenal congénita, lcsh:R, Congenital adrenal hyperplasia, lcsh:Medicine, Congenital adrenal hyperplasia clinical characteristics, lcsh:RC109-216, lcsh:RC581-607, lcsh:Infectious and parasitic diseases
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13
المؤلفون: Titania Pasqualini, Liliana Dain, Melisa Taboas, Pablo Daniel Ghiringhelli, Eduardo H. Charreau, Carlos David Bruque, Noemí Buzzalino, Lucía D. Espeche, Cecilia Fernández, Liliana Alba
المصدر: Endocrine. 50(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Endocrinology, Diabetes and Metabolism, Genética Humana, 21-HYDROXYLASE DEFICIENCY, Biology, medicine.disease_cause, Z PROMOTER NOVEL VARIANT, Exon, Endocrinology, Molecular genetics, medicine, Coding region, Humans, Allele, Promoter Regions, Genetic, Alleles, Regulation of gene expression, Genetics, Reporter gene, Mutation, Adrenal Hyperplasia, Congenital, MOLECULAR GENETICS, MISREGULATION TRANSCRIPTIONAL ACTIVITY, Promoter, Molecular biology, Medicina Básica, Gene Expression Regulation, Female, Steroid 21-Hydroxylase
وصف الملف: application/pdf
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14
المؤلفون: Liliana Dain, Titania Pasqualini, Eduardo H. Charreau, Adriana Oneto, Liliana Alba, Susana Belli, Carolina Minutolo, Noemí Buzzalino, Mirta Stivel
المصدر: Clinical Endocrinology. 56:239-245
مصطلحات موضوعية: Genetics, education.field_of_study, medicine.medical_specialty, Mutation, biology, Endocrinology, Diabetes and Metabolism, Point mutation, Population, 21-Hydroxylase, medicine.disease_cause, Genetic determinism, Endocrinology, Internal medicine, Genotype, biology.protein, medicine, Allele, education, Gene
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15
المؤلفون: Liliana Dain, Melisa Taboas, Mirta Stivel, Noemí Buzzalino, Carlos David Bruque, María Florencia Scaia, Nora R. Ceballos, Luciana Inés Gómez Acuña
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
PLoS ONE, Vol 9, Iss 3, p e92181 (2014)
PLoS ONEمصطلحات موضوعية: Mutant, lcsh:Medicine, Compound heterozygosity, medicine.disease_cause, Biochemistry, 21 Hidroxilasa, Substrate Specificity, purl.org/becyt/ford/1 [https], Exon, Endocrinology, Medicine and Health Sciences, lcsh:Science, Progesterone, Genetics, Mutation, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, 17-alpha-Hydroxyprogesterone, Bioquímica y Biología Molecular, Enzymes, CYP21A2, Anatomy, CIENCIAS NATURALES Y EXACTAS, Research Article, Blotting, Western, Endocrine System, Biology, Real-Time Polymerase Chain Reaction, Mutacion Novel, Ciencias Biológicas, medicine, Humans, Point Mutation, RNA, Messenger, Allele, purl.org/becyt/ford/1.6 [https], Genetic Association Studies, Analisis funcional, DNA Primers, Clinical Genetics, Adrenal Hyperplasia, Congenital, Point mutation, lcsh:R, Wild type, Biology and Life Sciences, Proteins, Computational Biology, Human Genetics, medicine.disease, Molecular biology, Inborn error of metabolism, Genetics of Disease, Adrenal Cortex, Enzymology, lcsh:Q, Steroid 21-Hydroxylase
وصف الملف: application/pdf
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المؤلفون: Titania, Pasqualini, Guillermo, Alonso, Cecilia, Fernández, Noemí, Buzzalino, Liliana, Dain
المصدر: Archivos argentinos de pediatria. 111(2)
مصطلحات موضوعية: Male, Adrenal Hyperplasia, Congenital, Humans, Age of Onset, Child, Glucocorticoids, Body Height
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17Academic Journal
المؤلفون: Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1036.2274; http://downloads.hindawi.com/journals/crig/2013/143781.pdf
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18Academic Journal
المؤلفون: Titania Pasqualini, Guillermo Alonso, Rosangela Tomasini, Ana Maria Galich, Noemi Buzzalino, Cecilia Fernandez, Carolina Minutolo, Liliana Alba, Liliana Dain
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.620.7728; http://www.medicinabuenosaires.com/revistas/vol67-07/3/completo/v67_3_p253_261.pdf
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