Your browser doesn't support javascript.
loading
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli, Francesca; Moss, Tonya; Moore, Hannah W; Devriendt, Koen; Flanagan-Steet, Heather; May, Melanie; Jones, Julie; Roelens, Filip; Fons, Carmen; Fernandez, Anna; Martorell, Loreto; Selicorni, Angelo; Maitz, Silvia; Vitiello, Giuseppina; Van der Hoeven, Gerd; Skinner, Steven A; Bollen, Mathieu; Vermeesch, Joris R; Steet, Richard; Van Esch, Hilde.
Afiliación
  • Cristofoli F; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Moss T; JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • Moore HW; Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • Devriendt K; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • May M; JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • Jones J; JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • Roelens F; Pediatric Neurology, Department of Pediatrics, AZ Delta, Brugsesteenweg 90, 8800 Roeselare, Belgium.
  • Fons C; Pediatric Neurology Department, Sant Joan de Déu Hospital, Passeig de Sant Joan de Déu 2, 08950 Barcelona, Spain.
  • Fernandez A; Pediatric Neurology Department, Sant Joan de Déu Hospital, Passeig de Sant Joan de Déu 2, 08950 Barcelona, Spain.
  • Martorell L; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Sant Joan de Déu Hospital, Passeig de Sant Joan de Déu 2, 08950 Barcelona, Spain.
  • Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna Hospital, Via Ravona 20, 22042 Como, Italy.
  • Maitz S; Clinical Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Via Pergolesi 33, 20900 Monza, Italy.
  • Vitiello G; Department of Translational Medicine and Molecular Medicine and Medical Biotechnologies, Federico II University, via Pansini 5, 80131 Naples, Italy.
  • Van der Hoeven G; Laboratory of Biosignalling & Therapeutics, Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Skinner SA; Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.
  • Bollen M; Laboratory of Biosignalling & Therapeutics, Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Vermeesch JR; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Steet R; JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA. Electronic address: rsteet@ggc.org.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address: hilde.vanesch@uzleuven.be.
Am J Hum Genet ; 107(4): 753-762, 2020 10 01.
Article en En | MEDLINE | ID: mdl-32910914
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Lámina Nuclear / Lamina Tipo B / Enanismo / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Lámina Nuclear / Lamina Tipo B / Enanismo / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Bélgica