نتائج البحث - "Maricilda P. de Mello"

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::33b5a4ebbfeeb44e0029ccc12150d0c6
https://pubmed.ncbi.nlm.nih.gov/35764069

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9

Academic Journal

Crescimento de pacientes com hiperplasia congênita das supra-renais, forma perdedora de sal, nos dois primeiros anos de vida Growth in patients with the salt-wasting form of congenital adrenal hyperplasia during the first two years of life

المؤلفون: Carolina T. Mendes-dos-Santos, Sofia H. V. de Lemos-Marini, Maria Tereza M. Baptista, Gil Guerra-Junior, Maricilda P. De-Mello, André M. Morcillo

المصدر: Revista Brasileira de Saúde Materno Infantil, Vol 9, Iss 4, Pp 415-421 (2009)

مصطلحات موضوعية: Crescimento, Hiperplasia supra-renal congênita, Glândulas supra-renais, Growth, Adrenal hyperplasia, congenital, Adrenal glands, Gynecology and obstetrics, RG1-991

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292009000400005; https://doaj.org/toc/1519-3829; https://doaj.org/toc/1806-9304; https://doaj.org/article/f7c963ea8a094572b85221a970765b1c

الاتاحة: https://doi.org/10.1590/S1519-38292009000400005
https://doaj.org/article/f7c963ea8a094572b85221a970765b1c

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10

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

المؤلفون: Monica M, França, Antonio M, Lerario, Mariana F A, Funari, Mirian Y, Nishi, Amanda M, Narcizo, Maricilda P, de Mello, Gil, Guerra-Junior, Andrea T, Maciel-Guerra, Berenice B, Mendonça

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 11(3)

مصطلحات موضوعية: Adult, Male, Adolescent, Base Sequence, Hypogonadism, Siblings, Homozygote, Mutation, Missense, Pedigree, Exome Sequencing, Humans, Receptors, FSH, Family, Female, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::70cceae918efd6a777de5ee83126361d
https://pubmed.ncbi.nlm.nih.gov/28591755

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11

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome

المؤلفون: Mara S, Guaragna, Juliana G, Ribeiro de Andrade, Bárbara, de Freitas Carli, Vera M S, Belangero, Andréa T, Maciel-Guerra, Gil, Guerra-Júnior, Maricilda P, de Mello

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 11(1)

مصطلحات موضوعية: Male, Heterozygote, Codon, Nonsense, Mutation, Disorders of Sex Development, Humans, Infant, Female, Exons, Haploinsufficiency, Denys-Drash Syndrome, WT1 Proteins, Wilms Tumor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::70b7c6186f69a6b33fff3e0f4d4827d4
https://pubmed.ncbi.nlm.nih.gov/28081536

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12

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

المؤلفون: Helena C, Fabbri, Juliana G, Ribeiro de Andrade, Andréa T, Maciel-Guerra, Gil, Guerra-Júnior, Maricilda P, de Mello

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 10(4)

مصطلحات موضوعية: Gonadal Dysgenesis, 46,XY, Male, Hypospadias, Disorder of Sex Development, 46,XY, Infant, Exons, Steroidogenic Factor 1, Introns, Codon, Nonsense, Mutation, Testis, Humans, Gonads, Infertility, Male