Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
Abbasi-Moheb, Lia, Mertel, Sara, Gonsior, Melanie, Nouri-Vahid, Leyla, Kahrizi, Kimia, Cirak, Sebahattin, Wieczorek, Dagmar, Motazacker, M. Mahdi, Esmaeeli-Nieh, Sahar, Cremer, Kirsten, Weißmann, Robert, Tzschach, Andreas, Garshasbi, Masoud, Abedini, Seyedeh S., Najmabadi, Hossein, Ropers, H. Hilger, Sigrist, Stephan J., Kuss, Andreas W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
Get full text
Journal Article
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F, Ropers, H Hilger, Najmabadi, Hossein
Published in PloS one (26.08.2015)
Published in PloS one (26.08.2015)
Get full text
Journal Article
ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, Pinkel, Dan, Cooper, Gregory M., Ventura, Mario, Ropers, H. Hilger, Tommerup, Niels, Eichler, Evan E., Bellanne-Chantelot, Christine
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
Get full text
Journal Article
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
Mir, Asif, Kaufman, Liana, Noor, Abdul, Motazacker, Mahdi M., Jamil, Talal, Azam, Matloob, Kahrizi, Kimia, Rafiq, Muhammad Arshad, Weksberg, Rosanna, Nasr, Tanveer, Naeem, Farooq, Tzschach, Andreas, Kuss, Andreas W., Ishak, Gisele E., Doherty, Dan, Ropers, H. Hilger, Barkovich, A. James, Najmabadi, Hossein, Ayub, Muhammad, Vincent, John B.
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
Get full text
Journal Article
Mapping translocation breakpoints by next-generation sequencing
Chen, Wei, Kalscheuer, Vera, Tzschach, Andreas, Menzel, Corinna, Ullmann, Reinhard, Schulz, Marcel Holger, Erdogan, Fikret, Li, Na, Kijas, Zofia, Arkesteijn, Ger, Pajares, Isidora Lopez, Goetz-Sothmann, Margret, Heinrich, Uwe, Rost, Imma, Dufke, Andreas, Grasshoff, Ute, Glaeser, Birgitta, Vingron, Martin, Ropers, H Hilger
Published in Genome Research (01.07.2008)
Published in Genome Research (01.07.2008)
Get full text
Journal Article
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Esmaeeli-Nieh, Sahar, Fenckova, Michaela, Porter, Iain M, Motazacker, M Mahdi, Nijhof, Bonnie, Castells-Nobau, Anna, Asztalos, Zoltan, Weißmann, Robert, Behjati, Farkhondeh, Tzschach, Andreas, Felbor, Ute, Scherthan, Harry, Sayfati, Seyed Morteza, Ropers, H Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Swedlow, Jason R, Schenck, Annette, Kuss, Andreas W
Published in PLoS genetics (11.05.2016)
Published in PLoS genetics (11.05.2016)
Get full text
Journal Article
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
Nuber, Ulrike A., Kriaucionis, Skirmantas, Roloff, Tim C., Guy, Jacky, Selfridge, Jim, Steinhoff, Christine, Schulz, Ralph, Lipkowitz, Bettina, Ropers, H. Hilger, Holmes, Megan C., Bird, Adrian
Published in Human molecular genetics (01.08.2005)
Published in Human molecular genetics (01.08.2005)
Get full text
Journal Article
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
NAJMABADI, Hossein, MOHAMMAD MAHDI MOTAZACKER, VAZIFEHMAND, Reza, SAGHAR GHASEMI FIROUZABADI, JAMALI, Payman, FALAH, Masoumeh, SEYED MORTEZA SEIFATI, GRUTERS, Annette, LENZNER, Steffen, JENSEN, Lar R, RÜSCHENDORF, Franz, KUSS, Andreas W, GARSHASBI, Masoud, HILGER ROPERS, H, KAHRIZI, Kimia, TZSCHACH, Andreas, WEI CHEN, BEHJATI, Farkhondeh, HADAVI, Valeh, SAHAR ESMAEELI NIEH, SEYEDEH SEDIGHEH ABEDINI
Published in Human genetics (01.03.2007)
Published in Human genetics (01.03.2007)
Get full text
Journal Article
Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence
Franić, Sanja, Dolan, Conor V., Broxholme, John, Hu, Hao, Zemojtel, Tomasz, Davies, Garreth E., Nelson, Kelly A., Ehli, Erik A., Pool, René, Hottenga, Jouke-Jan, Ropers, H.-Hilger, Boomsma, Dorret I.
Published in Intelligence (Norwood) (01.03.2015)
Published in Intelligence (Norwood) (01.03.2015)
Get full text
Journal Article
CGHPRO -- a comprehensive data analysis tool for array CGH
Chen, Wei, Erdogan, Fikret, Ropers, H-Hilger, Lenzner, Steffen, Ullmann, Reinhard
Published in BMC bioinformatics (05.04.2005)
Published in BMC bioinformatics (05.04.2005)
Get full text
Journal Article
Positional cloning of the gene for X-linked retinitis pigmentosa 2
Berger, Wolfgang, Pinckers, Alfred J.L.G, Bergen, Arthur A.B, Ropers, H.-Hilger, Fundele, Reinald, Rosenberg, Thomas, Feil, Silke, Hinzmann, Bernd, Kirschner, Renate, van Duijnhoven, Gerard, Dong, Juan, Rosenthal, André, Cremers, Frans P.M, Schwahn, Uwe, Hemberger, Myriam, Lenzner, Steffen
Published in Nature genetics (01.08.1998)
Published in Nature genetics (01.08.1998)
Get full text
Journal Article
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
NAJMABADI, Hossein, HAO HU, ZECHA, Agnes, MOHSENI, Marzieh, PUTTMANN, Lucia, LEYLA NOURI VAHID, JENSEN, Corinna, LIA ABBASI MOHEB, BIENEK, Melanie, LARTI, Farzaneh, MUELLER, Ines, WEISSMANN, Robert, GARSHASBI, Masoud, DARVISH, Hossein, WROGEMANN, Klaus, HADAVI, Valeh, LIPKOWITZ, Bettina, ESMAEELI-NIEH, Sahar, WIECZOREK, Dagmar, KARIMINEJAD, Roxana, SAGHAR GHASEMI FIROUZABADI, COHEN, Monika, FATTAHI, Zohreh, ZEMOJTEL, Tomasz, ROST, Imma, MOJAHEDI, Faezeh, HERTZBERG, Christoph, DEHGHAN, Atefeh, RAJAB, Anna, MOHAMMAD JAVAD SOLTANI BANAVANDI, HOFFER, Julia, FALAH, Masoumeh, MUSANTE, Luciana, KALSCHEUER, Vera, SEYEDEH SEDIGHEH ABEDINI, ULLMANN, Reinhard, WALTER KUSS, Andreas, TZSCHACH, Andreas, KAHRIZI, Kimia, ROPERS, H. Hilger, WEI CHEN, HOSSEINI, Masoumeh, BEHJATI, Farkhondeh, HAAS, Stefan, JAMALI, Payman
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
Get full text
Journal Article
Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis
Wieczorek, Georg, Steinhoff, Christine, Schulz, Ralph, Scheller, Marina, Vingron, Martin, Ropers, H-Hilger, Nuber, Ulrike A
Published in Cell and tissue research (01.02.2003)
Published in Cell and tissue research (01.02.2003)
Get full text
Journal Article