Cargando…

SUN-041 Estrogen Pharmacogenetics in Patients with Turner Syndrome

Background: Turner syndrome (TS) is a disorder characterized by complete or partial absence of the second sexual chromosome and the most commonly found abnormalities are short stature and gonadal failure. Most TS patients need estrogen replacement but individual outcomes on uterine volume, breast de...

Descripción completa

Detalles Bibliográficos
Autores principales:	Scalco, Renata, Trarbach, Ericka, Mendonca, Berenice, Arnhold, Ivo, Jorge, Alexander
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Genetics and Development (including Gene Regulation)
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553124/ http://dx.doi.org/10.1210/js.2019-SUN-041

Ejemplares similares

SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism
por: Kertsz, Renata, et al.
Publicado: (2020)

SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
por: NAKAGUMA, MARILENA, et al.
Publicado: (2019)

SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development
por: Montenegro, Luciana, et al.
Publicado: (2019)

SUN-031 Quantification of Pooled Libraries for Optimizing Cluster Density in Next Generation Sequencing
por: Narcizo, Amanda, et al.
Publicado: (2019)

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital
por: Cardoso, Lais Cavalca, et al.
Publicado: (2020)

MON-714 CRISPR / Cas9 Genomic Edition of the CDH2 Gene in Zebrafish Leads to Eye and Cardiac Malformation
por: Ventura, Bianca Helena, et al.
Publicado: (2020)

SUN-725 Clinical and Genetic Features of Families with Maternally Inherited Central Precocious Puberty
por: Tinano, Flávia Rezende, et al.
Publicado: (2020)

SUN-709 MiR-200c Expression Profiles in Plasma of 46,XY DSD Patients of Unknown Etiology
por: Elias, Felipe Martins, et al.
Publicado: (2020)

The Worldwide Landscape of Variants in the Androgen Receptor Gene Related to Androgen Insensitivity Syndrome: An Integrative Analysis
por: Batista, Rafael Loch, et al.
Publicado: (2021)

SUN-LB130 Identification of IGSF1 Ligands
por: Smith, Courtney L, et al.
Publicado: (2020)

SUN-719 The Impact of FOXA3 on Testicular Steroidogenesis
por: Kim, Hansle, et al.
Publicado: (2020)

SUN-043 Epigenetic Regulation of Aldosterone Synthase Gene by Potassium
por: Takeda, Yoshiyu, et al.
Publicado: (2019)

SUN-713 Prevalence of Renal Cysts in Patients with Carney Complex
por: Kamilaris, Crystal Dawn Chrysavgi, et al.
Publicado: (2020)

SUN-722 Liver Leptin Receptor Gene Network Moderates the Effects of Early Life Adversity on Anxiety and Depression Problems in Children and Adolescents
por: Sobreira de Lima, Randriely Merscher, et al.
Publicado: (2020)

SUN-039 Characterization of Human Adrenal Steroidogenesis during Fetal Development
por: Melau, Cecilie, et al.
Publicado: (2019)

SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model
por: Gutierrez Maria, Andrea, et al.
Publicado: (2019)

SUN-045 Resilience in the Regulation of the Unfolded Protein Response across Tissues and Species
por: Soltanmohamadi, Elham, et al.
Publicado: (2019)

SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
por: Vantyghem, Marie-Christine, et al.
Publicado: (2019)

SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome
por: Davis, Shanlee, et al.
Publicado: (2019)

SUN-044 Methylation Status and Gene Expression of Steroidogenic Enzymes in Benign Adrenocortical Tumors
por: Di Dalmazi, Guido, et al.
Publicado: (2019)

SUN-718 Reciprocal Regulation of miR-375 and ICER in Pancreatic Beta Cells
por: Frias, Stephanye, et al.
Publicado: (2020)

SUN-715 IIM May Influence Matured Oocytes’ DNA Methylation of PCOS Patients
por: Li, Congru, et al.
Publicado: (2020)

SUN-030 Expression Profiles of Short RNAs in Mouse Serum Employing Endocrine Organs as Controls
por: Habib, Tanwir, et al.
Publicado: (2019)

SUN-046 Identification of Clinical Predictors for Detection of Mutations in Multiple Endocrine Neoplasia Type 1
por: Urtremari, Betsaida, et al.
Publicado: (2019)

SUN-050 The Evolutionarily Conserved Function of COUP-TF Genes in the Differentiation of Photoreceptor Cells in the Retina
por: Zhu, Jian, et al.
Publicado: (2019)

SUN-LB008 Clinical Phenotype and Genotype Analysis of Short Stature Patients with Skeletal Dysplasia
por: Miao, Hui, et al.
Publicado: (2019)

SUN-LB133 Analysis of Clinical Characteristics and Gene Mutation in Four Cases of Gitelman Syndrome
por: Yao, Bin
Publicado: (2020)

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients
por: Trobo, Sofia, et al.
Publicado: (2019)

SUN-LB007 The Mouse AgRP Gene Has Three Promoters: Differential Regulation by Nutritional States
por: Ifebi, Bruno, et al.
Publicado: (2019)

SUN-029 Circular RNA Profile of Parathyroid Neoplasms: Analysis of Co-Expression Networks of Circular RNAs and mRNAs
por: Hu, Ya, et al.
Publicado: (2019)

SUN-048 Maternal Caloric Restriction during Pregnancy Activates the Nrf2 Antioxidant Program in Embryonic Mouse Liver
por: Chartoumpekis, Dionysios, et al.
Publicado: (2019)

SUN-717 SG-2 a Novel Multi-Target Directed Ligand (MTDL) for the Treatment of Neurodegenerative Diseases (NDDS)
por: Sestito, Simona, et al.
Publicado: (2020)

SUN-LB132 Frequency and Impact of Mutations in Tumor Suppressor Gene CDC73 in General Population and Malignant Tumors
por: Li, Yulong, et al.
Publicado: (2020)

SUN-LB006 Skeletal Muscle Krüppel-Like Factor 15 and PPARd Cooperate to Regulate Skeletal Muscle Lipid Metabolism
por: Fan, Liyan, et al.
Publicado: (2019)

SUN-036 SLC16A11 Gene Expression In Mothers With And Without Gestational Diabetes And Their Offspring Umbilical Cord Blood.
por: Marrero-Rodríguez, Daniel, et al.
Publicado: (2019)

SUN-042 Loss of the 18-Kda Translocator Protein Tspo Destabilizes Cholesterol Homeostasis in a Hepatic Steatosis Cell Model
por: Li, Yuchang, et al.
Publicado: (2019)

SUN-033 RNA-Seq Analysis of Ovariectomy-Induced Changes in Mouse Liver Reveals New Targets for Menopause-Associated Metabolic Derangement
por: Stokar, Joshua, et al.
Publicado: (2019)

SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients
por: Humbert, Linda, et al.
Publicado: (2019)

SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation
por: Vaiani, Elisa, et al.
Publicado: (2020)

SUN-724 Associations of GPR174 and ITM2A Genes on X Chromosome with Early Onset Autoimmune Thyroid Disease in Korean
por: Lee, Nayeong, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_je77ftl8tbtnc1rojabs2c9tuo