Autor: "Alonso-Cerezo MC" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Autorzy:: Martinez de Lapiscina I; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.
Kouri C; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.
Aurrekoetxea J; Biocruces Bizkaia Health Research Institute, Research Group of Medical Oncology, Cruces University Hospital, Barakaldo, Spain.; University of the Basque Country (UPV-EHU), Leioa, Spain.
Sanchez M; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.
Naamneh Elzenaty R; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.
Sauter KS; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.
Camats N; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Vall d'Hebron Research Institute (VHIR), Growth and Development group, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Grau G; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Rica I; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Rodriguez A; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Vela A; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Cortazar A; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Endocrinology Department, Cruces University Hospital, Barakaldo, Spain.
Alonso-Cerezo MC; La Princesa University Hospital, Madrid, Spain.
Bahillo P; Department of Pediatrics, Pediatric Endocrinology Unit, x Clinic University Hospital of Valladolid, Valladolid, Spain.
Bertholt L; Pediatric Endocrinology Department, Marques de Valdecilla University Hospital, Santander, Spain.
Esteva I; Endocrinology Section, Gender Identity Unit, Regional University Hospital of Malaga, Malaga, Spain.
Castaño L; Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain.; Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.; Endo-ERN, Amsterdam, The Netherlands.; University of the Basque Country (UPV-EHU), Leioa, Spain.; Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain.
Flück CE; Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland.; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2023 Jul 11; Vol. 18 (7), pp. e0287515. Date of Electronic Publication: 2023 Jul 11 (Print Publication: 2023).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cryptorchidism*
Disorders of Sex Development*/genetics
Humans ; Male ; Sexual Development ; Algorithms ; Causality ; Steroidogenic Factor 1/genetics

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