Now showing items 1-11 of 11

    • Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis 

      Rodríguez, Fernando Adrián; Unanue Morales, Nancy; Hernández Cárdenas, María Isabel; Basaure, Javiera; Heath, Karen Elise; Cassorla Goluboff, Fernando (2013)
      Aim: L é ri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was ...
    • Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism 

      Rodríguez Convertino, Fernando; Vallejos Concha, Carla; Giraudo, F.; Unanue Morales, Nancy; Hernández Cárdenas, María Isabel; Godoy, P.; Celis, S.; Martín Arenas, R.; Palomares Bralo, M.; Heath, K. E.; López, M. T.; Cassorla Goluboff, Fernando (American Society of Andrology, 2017)
      Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, ...
    • Copy Number Variation of RAS/MAPK Pathway Genes in Patients with Isolated Cryptorchidism 

      Rodríguez Convertino, Fernando; Vallejos Concha, Carla; Unanue Morales, Nancy; Hernández Cárdenas, María Isabel; Celis, S.; Arenas, R.; Palomares, R.; Heath, K.; López, M. T.; Cassorla Goluboff, Fernando (Karger, 2016)
    • Cronología del desarrollo puberal en niñas escolares de Santiago: relación con nivel socio-económico e índice de masa corporal 

      Codner Dujovne, Ethel; Unanue Morales, Nancy; Gaete Vásquez, Ximena; Barrera P., Alvaro; Mook-Kanamori, Dennis; Bazaes Castillo, Rodrigo Antonio; Avila A., Alejandra; Cassorla Goluboff, Fernando (2004)
      Background: Recent studies in the United States have demonstrated that a significant proportion of girls show thelarche before the age of eight years. Nutritional status, geographic influences and racial factors are known ...
    • Edad de la menarquia y su relación con el nivel socioeconómico e índice de masa corporal 

      Hernández, María Isabel; Unanue Morales, Nancy; Gaete, Ximena; Cassorla Goluboff, Fernando; Codner Dujovne, Ethel (SOC MEDICA SANTIAGO, 2007-11)
      Background: A decline in the age of menarche was observed from early 1900s to the 1970s. However, it is not known if a further decline ocurred thereafter. Aim: To evaluate the age of menarche in girls from Santiago, Chile ...
    • Hipopituitarismo congénito: Experiencia en 23 casos 

      Lammoglia, Juan Javier; Eyzaguirre, Francisca; Unanue Morales, Nancy; Román, Rossana; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Mericq, Verónica (SOC MEDICA SANTIAGO, 2008-08)
      Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
    • Insulinoma, presentación y evolución de dos casos clínicos 

      Lammoglia H., Juan Javier; Hernández C., María Isabel; Unanue Morales, Nancy; Román R., Rossana; Villanueva B., Jorge; Avila A., Alejandra; Mericq, Verónica; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando (2008)
      Insulinoma is a very uncommon tumor in children, with an incidence in adults of 2 per million inhabitants.Clinical manifestations include neuroglycopenic or autonomic manifestations due to hypoglycemia. Wedescribe 2 pediatric ...
    • Menstrual cycle irregularities and their relationship with HbA1c and insulin dose in adolescents with type 1 diabetes mellitus 

      Gaete, Ximena; Vivanco, Maritza; Eyzaguirre, Francisca C.; López, Patricia; Rhumie, Hana K.; Unanue Morales, Nancy; Codner Dujovne, Ethel (ELSEVIER, 2010-10)
      Objective: To evaluate the prevalence and risk factors of menstrual cycle irregularities in adolescents with type 1 diabetes mellitus. Design: Prospective diary of menstrual cycle. Setting: Pediatric diabetes clinics ...
    • Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome 

      Rodríguez, Fernando A.; Unanue Morales, Nancy; Hernández Cárdenas, María Isabel; Heath, Karen E.; Cassorla Goluboff, Fernando (De Gruyter, 2014)
      Background: Noonan syndrome (NS) is an autosomal dominant syndrome characterized by typical dysmorphic features, cardiac anomalies as well as postnatal growth retardation, and is associated with Ras-MAPK pathway gene ...
    • Molecular Study of Rasopathies in Patients with Isolated Cryptorchidism 

      Rodríguez, Fernando A.; Vallejo, C.; Pastrián, M.; Poblete, D.; Unanue Morales, Nancy; Hernández, I.; Celis, S.; Arenas, R.; Palomares, M.; Heath, K.; López, M.; Cassorla Goluboff, Fernando (Karger, 2015)
    • Ovarian function during puberty in girls with type 1 diabetes mellitus: Response to Leuprolide 

      Codner Dujovne, Ethel; Mook-Kanamori, Dennis; Bazaes Castillo, Rodrigo Antonio; Unanue Morales, Nancy; Sovino, Hugo; Ugarte, Francisca; Avila, Alejandra; Iñíguez Vila, Germán; Cassorla Goluboff, Fernando (ENDOCRINE SOC, 2005-07)
      Context: An increased prevalence of polycystic ovary syndrome (PCOS) has been reported in adult women with type 1 diabetes mellitus (DM1). We investigated whether these hormonal abnormalities begin during puberty by ...