Your browser doesn't support javascript.
loading
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Reilly, Madeline Louise; Stokman, Marijn F; Magry, Virginie; Jeanpierre, Cecile; Alves, Marine; Paydar, Mohammadjavad; Hellinga, Jacqueline; Delous, Marion; Pouly, Daniel; Failler, Marion; Martinovic, Jelena; Loeuillet, Laurence; Leroy, Brigitte; Tantau, Julia; Roume, Joelle; Gregory-Evans, Cheryl Y; Shan, Xianghong; Filges, Isabel; Allingham, John S; Kwok, Benjamin H; Saunier, Sophie; Giles, Rachel H; Benmerah, Alexandre.
Afiliación
  • Reilly ML; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Stokman MF; Paris Diderot University, Department of Life Sciences, Paris, France.
  • Magry V; Department of Genetics, University Medical Center Utrecht, Utrecht University, JE Utrecht, Netherlands.
  • Jeanpierre C; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Alves M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Paydar M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Hellinga J; Institute for Research in Immunology and Cancer, Département de médecine, Université de Montréal, PO Box 6128, Station Centre-Ville, Montréal, QC, Canada.
  • Delous M; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.
  • Pouly D; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Failler M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Martinovic J; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Loeuillet L; Unit of Fetal Pathology, Antoine Béclère Hospital, AP-HP, Clamart, France.
  • Leroy B; INSERM U-788, Génétique/Neurogénétique, 94270 Le Kremlin-Bicêtre, France.
  • Tantau J; Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Roume J; Service d'Anatomie et de Cytologie Pathologiques, Centre hospitalier intercommunal de Poissy, Saint Germain en Laye, France.
  • Gregory-Evans CY; Service d'Anatomie et de Cytologie Pathologiques, Centre hospitalier intercommunal de Poissy, Saint Germain en Laye, France.
  • Shan X; Service de Génétique, Centre hospitalier intercommunal de Poissy, 78100 Saint Germain en Laye, France.
  • Filges I; Department of Ophthalmology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • Allingham JS; Department of Ophthalmology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • Kwok BH; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital of Basel, University of Basel, Basel, Switzerland.
  • Saunier S; Department of Clinical Research, University Hospital of Basel, University of Basel, Basel, Switzerland.
  • Giles RH; Department of Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • Benmerah A; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.
Hum Mol Genet ; 28(5): 778-795, 2019 03 01.
Article en En | MEDLINE | ID: mdl-30388224
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Cinesinas / Proteínas Oncogénicas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación con Pérdida de Función / Riñón / Enfermedades Renales / Microcefalia Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Cinesinas / Proteínas Oncogénicas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación con Pérdida de Función / Riñón / Enfermedades Renales / Microcefalia Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Francia