-
1
المؤلفون: Marco A. Rivarola, Esperanza Berensztein, Pablo Ramírez, Alberto J. Solari, Alicia Belgorosky, María Sonia Baquedano, Paula Aliberti, Marcela Bailez, Gabriela Guercio, Natalia Perez Garrido, Roxana Marino, Roberta Beatriz Sciurano, Diana Monica Warman, Mariana Costanzo
المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 11(5-6)
مصطلحات موضوعية: 0301 basic medicine, Male, endocrine system, Embryology, CIENCIAS MÉDICAS Y DE LA SALUD, Organic Cation Transport Proteins, Endocrinology, Diabetes and Metabolism, Cell, Medicina Clínica, Biology, Andrology, 03 medical and health sciences, Gonocyte, Antigens, Neoplasm, Prepuberty, Testis, medicine, TESTICULAR DYSGENESIS, Humans, Child, GERM CELLS, Virilization, Puberty, Infant, Androgen-Insensitivity Syndrome, medicine.disease, Sertoli cell, Immunohistochemistry, Spermatogonia, Neoplasm Proteins, Androgen receptor, 030104 developmental biology, medicine.anatomical_structure, Germ Cells, ANDROGEN INSENSITIVITY SYNDROME, Receptors, Androgen, Child, Preschool, Androgen insensitivity syndrome, PREPUBERTY, Medicina Critica y de Emergencia, medicine.symptom, Octamer Transcription Factor-3, Germ cell, Developmental Biology
وصف الملف: application/pdf
-
2
المؤلفون: María Sonia Baquedano, Mariana Costanzo, Roxana Marino, Marco A. Rivarola, Mercedes Maceiras, Gabriela Guercio, Eduardo Chaler, Esperanza Berensztein, Juan Manuel Lazzatti, Alicia Belgorosky, Pablo Ramirez, Jessica Galeano, Nora Saraco, Diana Monica Warman, Valeria De Dona, Marta Ciaccio
المصدر: Hormone Research in Paediatrics. 78:119-126
مصطلحات موضوعية: Genetics, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Mutation, Endocrinology, Diabetes and Metabolism, XX gonadal dysgenesis, Gonadal dysgenesis, Micropenis, Biology, medicine.disease, medicine.disease_cause, Premature ovarian failure, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Disorders of sex development, Ovarian reserve
-
3
المؤلفون: Marco A. Rivarola, Esperanza Berensztein, Nora Saraco, Eduardo Chaler, Gabriela Guercio, Diana Monica Warman, Marta Ciaccio, Pablo Ramirez, Juan Manuel Lazzatti, María Sonia Baquedano, Alicia Belgorosky, Mariana Costanzo, Jesica Galeano, Roxana Marino, Marcela Bailez, Mercedes Maceiras
المصدر: Hormone Research in Paediatrics. 75:70-77
مصطلحات موضوعية: Adult, Male, 46, XX Disorders of Sex Development, Adolescent, Endocrinology, Diabetes and Metabolism, Primary Ovarian Insufficiency, Biology, Gene mutation, Gonadal Dysgenesis, Steroidogenic Factor 1, Young Adult, Endocrinology, Testis, medicine, Humans, Disorders of sex development, Child, Ovarian reserve, Genetic Association Studies, Genetics, Hypospadias, Disorder of Sex Development, 46,XY, Hyperplasia, NR5A1 gene, Genetic Variation, Infant, Ovarian Insufficiency, medicine.disease, Pedigree, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female
-
4
المؤلفون: Diana Monica Warman, Viviana Herzovich, Noelia Dujovne, Marta Ciaccio, Alicia Belgorosky, Yesica Longueira, María Sonia Baquedano, Marco A. Rivarola
المصدر: The Journal of Clinical Endocrinology & Metabolism. 95:E98-E103
مصطلحات موضوعية: medicine.medical_specialty, Protein Conformation, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutant, Thyrotropin, beta Subunit, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Biochemistry, Exon, Neonatal Screening, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Central hypothyroidism, Humans, Missense mutation, Child, False Negative Reactions, Mutation, Biochemistry (medical), Infant, Newborn, Intron, medicine.disease, Molecular biology, Pedigree, Congenital hypothyroidism, Amino Acid Substitution, Child, Preschool, Minigene
-
5
المؤلفون: Natalia Perez Garrido, Carlos Rocco, Marta Ciaccio, Alicia Belgorosky, N Saraco, Marco Aurelio Rivarola, Mariana Costanzo, Pablo Ramirez, José García Feyling, Gladys Pena, Diana Monica Warman, Roxana Marino, Matias Juanes, Gabriela Guercio, Mirta Miras
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, 46, XX Disorders of Sex Development, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Medicina Clínica, Biology, Biochemistry, Endocrinology, Aromatase, Internal medicine, purl.org/becyt/ford/3.2 [https], medicine, Humans, Aromatase Deficiency, Child, Infertility, Male, Gynecology, Biochemistry (medical), Follow up studies, medicine.disease, Founder Effect, Haplotypes, Child, Preschool, Mutation, Gynecomastia, Female, purl.org/becyt/ford/3 [https], Medicina Critica y de Emergencia, Aromatase deficiency, Novel mutation, Metabolism, Inborn Errors, Founder effect, Follow-Up Studies
وصف الملف: application/pdf
-
6
المؤلفون: Roxana Marino, Esperanza Berensztein, Alicia Belgorosky, Marcela Bailez, Diana Monica Warman, Marco A. Rivarola, Matias Juanes, Silvia Gil, Gabriela Guercio, Marta Ciaccio
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, CIENCIAS MÉDICAS Y DE LA SALUD, Endocrinology, Diabetes and Metabolism, Biopsy, DNA Mutational Analysis, Argentina, Medicina Clínica, Biology, Receptor, IGF Type 1, Cohort Studies, Endocrinology, Dna genetics, Internal medicine, medicine, Humans, Postnatal growth, Insulin-Like Growth Factor I, Phosphorylation, Child, Growth Disorders, Microcephalic, Fetal Growth Retardation, Human Growth Hormone, Genetic Variation, Infant, Prenatal And Postnatal Growth Retardation, Receptors, Somatomedin, DNA, Fibroblasts, Introns, Igf1r Mutations, Child, Preschool, Mutation, Microcephaly, Female, Medicina Critica y de Emergencia, Proto-Oncogene Proteins c-akt
وصف الملف: application/pdf
-
7
المؤلفون: Diana Monica Warman, Eduardo Chaler, Mercedes Maceiras, Roxana Marino, Pablo Ramírez, Isabel Di Palma, Alicia Belgorosky, Matias Juanes, Marta Ciaccio, Valeria De Dona, Marco A. Rivarola
المصدر: Clinical endocrinology. 80(4)
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Argentina, Dwarfism, Biology, medicine.disease_cause, Short stature, Endocrinology, Isolated GH Deficiency, Internal medicine, medicine, Humans, Dwarfism, Pituitary, Receptors, Ghrelin, Genetics, Mutation, Human Growth Hormone, Amino acid substitution, medicine.disease, Large cohort, Amino Acid Substitution, Isolated growth hormone deficiency, Female, medicine.symptom, GHRHR gene
-
8
المؤلفون: Marta, Ciaccio, Mariana, Costanzo, Gabriela, Guercio, Valeria, De Dona, Roxana, Marino, Pablo C, Ramirez, Jessica, Galeano, Diana Monica, Warman, Esperanza, Berensztein, Nora, Saraco, Maria Sonia, Baquedano, Eduardo, Chaler, Mercedes, Maceiras, Juan Manuel, Lazzatti, Marco A, Rivarola, Alicia, Belgorosky
المصدر: Hormone research in paediatrics. 78(2)
مصطلحات موضوعية: Adult, Male, Disorder of Sex Development, 46,XY, Fertility, Child, Preschool, Mutation, Humans, Female, Steroidogenic Factor 1, Gonadal Dysgenesis, 46,XX, Pedigree
-
9
المؤلفون: Alicia Belgorosky, Eduardo Chaler, Diana Monica Warman, Roxana Marino, Marta Ciaccio, Natalia Perez Garrido, Viviana Balbi, Jesica Galeano, Pablo Ramírez, Ignacio Bergadá, Carlos Rocco, Marco A. Rivarola, Esther Pardes, Mercedes Maceiras, Gabriela Guercio, Mirta Gryngarten
المصدر: Clinical endocrinology. 75(4)
مصطلحات موضوعية: Male, Genotype, Endocrinology, Diabetes and Metabolism, Nonsense mutation, DNA Mutational Analysis, Argentina, Biology, medicine.disease_cause, Endocrinology, medicine, Humans, Congenital adrenal hyperplasia, Allele, Gene, Genetics, Mutation, Adrenal Hyperplasia, Congenital, medicine.disease, Phenotype, Molecular biology, Female, Steroid 21-Hydroxylase, Restriction fragment length polymorphism
-
10
المؤلفون: M A Rivarola, Gabriela Guercio, Marta Ciaccio, Diana Monica Warman, S Gil, D Alderete, Elisa Vaiani, Alicia Belgorosky, M Palladino
المصدر: Hormone research in paediatrics. 73(4)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Rhgh treatment, Cohort Studies, Endocrinology, medicine, Childhood Medulloblastoma, Humans, Medulloblastoma, Anthropometry, business.industry, Human Growth Hormone, medicine.disease, Adult height, Body Height, Recombinant Proteins, Pediatrics, Perinatology and Child Health, Regression Analysis, Female, business, GH Deficiency, Cohort study