Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Por Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina
Publicado em 2000

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Por Van Esch, Hilde , Bauters, Marijke , Ignatius, Jaakko , Jansen, Mieke , Raynaud, Martine , Hollanders, Karen , Lugtenberg, Dorien , Bienvenu, Thierry , Jensen, Lars Riff , Gécz, Jozef , Moraine, Claude , Marynen, Peter , Fryns, Jean-Pierre , Froyen, Guy 
Publicado em 2005

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

Por Garshasbi, Masoud, Mahmoudi, Mahdi, Razmara, Ehsan, Vojdanian, Mahdi, Aslani, Saeed, Farhadi, Elham, Jensen, Lars Riff, Arzaghi, Seyed Masoud, Poursani, Shiva, Bitaraf, Amirreza, Eidi, Milad, Gharehdaghi, Elika Esmaeilzadeh, Kuss, Andreas Walter, Jamshidi, Ahmadreza
Publicado no Eur J Hum Genet (2020)

The C-Mannosylome of Human Induced Pluripotent Stem Cells Implies a Role for ADAMTS16 C-Mannosylation in Eye Development

Por Cirksena, Karsten, Hütte, Hermann J., Shcherbakova, Aleksandra, Thumberger, Thomas, Sakson, Roman, Weiss, Stefan, Jensen, Lars Riff, Friedrich, Alina, Todt, Daniel, Kuss, Andreas W., Ruppert, Thomas, Wittbrodt, Joachim, Bakker, Hans, Buettner, Falk F.R.
Publicado no Mol Cell Proteomics (2021)

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

Por Freude, Kristine, Hoffmann, Kirsten, Jensen, Lars-Riff, Delatycki, Martin B., des Portes, Vincent, Moser, Bettina, Hamel, Ben, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Gécz, Jozef, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger
Publicado em 2004

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Por Motazacker, Mohammad Mahdi , Rost, Benjamin Rainer , Hucho, Tim , Garshasbi, Masoud , Kahrizi, Kimia , Ullmann, Reinhard , Abedini, Seyedeh Sedigheh , Nieh, Sahar Esmaeeli , Amini, Saeid Hosseini , Goswami, Chandan , Tzschach, Andreas , Jensen, Lars Riff , Schmitz, Dietmar , Ropers, Hans Hilger , Najmabadi, Hossein , Kuss, Andreas Walter 
Publicado em 2007

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Por Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen
Publicado em 2005