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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G G; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu.
Afiliación
  • McElreavey K; Human Developmental Genetics Unit, Institut Pasteur, Paris, France. kenmce@pasteur.fr.
  • Jorgensen A; Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark.
  • Eozenou C; Human Developmental Genetics Unit, Institut Pasteur, Paris, France.
  • Merel T; Human Developmental Genetics Unit, Institut Pasteur, Paris, France.
  • Bignon-Topalovic J; Human Developmental Genetics Unit, Institut Pasteur, Paris, France.
  • Tan DS; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Houzelstein D; Human Developmental Genetics Unit, Institut Pasteur, Paris, France.
  • Buonocore F; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, UCL, London, UK.
  • Warr N; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Oxfordshire, UK.
  • Kay RGG; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Oxfordshire, UK.
  • Peycelon M; AP-HP, Hôpital d'Enfants Armand-Trousseau, Genetics and Embryology Department; Sorbonne Université; INSERM UMRS_933, Paris, France.
  • Siffroi JP; AP-HP, Hôpital Universitaire Robert-Debré, Pediatric Urology Department,; Reference Center for Rare Diseases (CRMR) Malformations Rares des Voies Urinaires (MARVU), Université de Paris, Paris, France.
  • Mazen I; Riley Children Hospital, Pediatric Urology Department; Indiana University, School of Medicine, Indianapolis, USA.
  • Achermann JC; AP-HP, Hôpital d'Enfants Armand-Trousseau, Genetics and Embryology Department; Sorbonne Université; INSERM UMRS_933, Paris, France.
  • Shcherbak Y; Genetics Department, National Research Center, Cairo, Egypt.
  • Leger J; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, UCL, London, UK.
  • Sallai A; National Hospital, OHMATDYT, Kyiv, Ukraine.
  • Carel JC; Endocrinology et Diabetic Pediatrics, Hospital Robert Debre, Paris, France.
  • Martinerie L; Second Department of Paediatrics, Semmelweis University, Budapest, Hungary.
  • Le Ru R; Endocrinology et Diabetic Pediatrics, Hospital Robert Debre, Paris, France.
  • Conway GS; Endocrinology et Diabetic Pediatrics, Hospital Robert Debre, Paris, France.
  • Mignot B; Department of Pathology, University Hospital, University of Franche-Comté, Besançon, France.
  • Van Maldergem L; Reproductive Medicine Unit, Institute for Women's Health UCL, London, UK.
  • Bertalan R; Department of Pediatrics, University Hospital, University of Franche-Comté, Besançon, France.
  • Globa E; Human Genetics Center, University Hospital, University of Franche-Comté, Besançon, France.
  • Brauner R; First Department of Paediatrics, Semmelweis University, Budapest, Hungary.
  • Jauch R; Ukrainian Center of Endocrine Surgery Endocrine Organs and Tissue Transplantation, MoH of Ukraine, Kyiv, Ukraine.
  • Nef S; Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.
  • Greenfield A; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Bashamboo A; Department of Genetic Medicine and Development University of Geneva, Geneva, Switzerland.
Genet Med ; 22(1): 150-159, 2020 01.
Article en En | MEDLINE | ID: mdl-31337883
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Testículo / Análisis de Secuencia de ADN / ARN Helicasas / Mutación Missense / Disgenesia Gonadal 46 XY Límite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Testículo / Análisis de Secuencia de ADN / ARN Helicasas / Mutación Missense / Disgenesia Gonadal 46 XY Límite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Francia