Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects (2009)
Jansen, Andreas, Krach, Sören, Krug, Axel, Markov, Valentin, Eggermann, Thomas, Zerres, Klaus, ...
Abstract Background In the last years, several susceptibility genes for psychiatric disorders have been identified, among others G72 (also named D-amino acid oxidase activator, DAOA). Typically, the...
Common variants conferring risk of schizophrenia (2009)
Stefansson, Hreinn, Ophoff, Roel A, Steinberg, Stacy, Andreassen, Ole A, Cichon, Sven, Rujescu, Dan, ...
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P H, Barnes, Michael R, Toulopoulou, Timothea, ...
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P.H., Barnes, Michael R., Toulopoulou, Timothea, ...
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and...
Schumacher, Johannes, Laje, Gonzalo, Jamra, Rami Abou, Becker, Tim, Mühleisen, Thomas W., Vasilescu, Catalina, ...
Association studies, as well as the initial translocation family study, identified the gene Disrupted-In-Schizophrenia-1 (DISC1) as a risk factor for schizophrenia. DISC1 encodes a multifunctional...
Large recurrent microdeletions associated with schizophrenia (2008)
Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P H, Ingason, Andres, Steinberg, Stacy, ...
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Cichon, Sven, Winge, Ingeborg, Mattheisen, Manuel, Georgi, Alexander, Karpushova, Anna, Freudenberg, Jan, ...
The neurotransmitter serotonin [5-hydroxytryptamine (5-HT)] controls a broad range of biological functions that are disturbed in affective disorder. In the brain, 5-HT production is controlled by...
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia (2007)
Anthoni, Heidi, Zucchelli, Marco, Matsson, Hans, Müller-Myhsok, Bertram, Fransson, Ingegerd, Schumacher, Johannes, ...
DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families....
Heidi Anthoni, Marco Zucchelli, Hans Matsson, Bertram Müller-myhsok, Johannes Schumacher, Satu Massinen, ...
s65713213-s65713216 ss49855067-ss49855099 EF158467-EF158469
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia (2007)
Anthoni, Heidi, Zucchelli, Marco, Matsson, Hans, Müller-Myhsok, Bertram, Fransson, Ingegerd, Schumacher, Johannes, ...
DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium mapping in a set of Finnish families. The...
Poot, Martin, Szuhai, Karoly, Wauters, Jan, Reyniers, Edwin, ...
Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism...
Abou Jamra, Rami, Schmael, Christine, Cichon, Sven, Rietschel, Marcella, Schumacher, Johannes, Nöthen, Markus M.
In follow-up from evidence obtained in linkage studies, systematic linkage disequilibrium mapping within chromosomal region 13q33 has led to the identification of a schizophrenia susceptibility locus...
The G72/G30 Gene Locus in Psychiatric Disorders: A Challenge to Diagnostic Boundaries? (2006)
Abou Jamra, Rami, Schmael, Christine, Cichon, Sven, Rietschel, Marcella, Schumacher, Johannes, Nöthen, Markus M.
In follow-up from evidence obtained in linkage studies, systematic linkage disequilibrium mapping within chromosomal region 13q33 has led to the identification of a schizophrenia susceptibility locus...
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation (2005)
Betz, Regina C, Kragballe, Knud, Steiniche, Torben, Peeters, Nils, ...
Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma,...
An interstitial deletion of chromosome 7 at band q21: a case report and review (2005)
Vermeulen, Stefan, Messiaen, Ludwine, Nuytinck, Lieve, ...
We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of...
Prenatal diagnosis of Pfeiffer syndrome type II (2004)
Loquet, Philip, Nöthen, Markus M
Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have...
The FUgene and its possible protein isoforms (2004)
Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, ...
Abstract Background FU is the human homologue of the Drosophila gene fused whose product fused is a positive regulator of the transcription factor Cubitus interruptus (Ci). Thus, FU may act as a...
Jönsson, Erik G, Bah, Jessica, Melke, Jonas, Abou Jamra, Rami, Schumacher, Johannes, Westberg, Lars, ...
Abstract Background Concentrations of monoamine metabolites in human cerebrospinal fluid (CSF) have been used extensively as indirect estimates of monoamine turnover in the brain. CSF monoamine...
The FU Gene and Its Possible Protein Isoforms (2004)
Bmc Genomics, David B Everman, Regina C Betz, Markus M Nothen, Charles E Schwartz, Peter G Zaphiropoulos, ...
Background: FU is the human homologue of the Drosophila gene fused whose product Fused is a positive regulator of the transcription factor Cubitus interruptus (Ci). Thus, FU may act as a regulator of...
BMC Psychiatry BioMed Central (2004)
Erik G Jönsson, Jessica Bah, Jonas Melke, Rami Abou Jamra, Johannes Schumacher, Lars Westberg, ...
Research article Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers
Freudenberg-Hua, Yun, Freudenberg, Jan, Kluck, Nadine, Cichon, Sven, Propping, Peter, Nöthen, Markus M.
The detailed investigation of variation in functionally important regions of the human genome is expected to promote understanding of genetically complex diseases. We resequenced 65 candidate genes...
Can long-range microsatellite data be used to predict short-range linkage disequilibrium? (2002)
Schulze, Thomas G., Chen, Yu-Sheng, Akula, Nirmala, Hennessy, Kathleen, Badner, Judith A., McInnis, Melvin G., ...
The distribution of linkage disequilibrium (LD) across the genome is highly complex. Little is known about the relationship between long-range and short-range LD in a genomic region. We assessed...
Cichon, Sven, Schumacher, Johannes, Müller, Daniel J., Hürter, Martina, Windemuth, Christine, Strauch, Konstantin, ...
Cichon, Sven, Schumacher, Johannes, Müller, Daniel J., Hürter, Martina, Windemuth, Christine, Strauch, Konstantin, ...
Bipolar affective disorder (BPAD), also known as manic depressive illness, is a severe psychiatric disorder characterized by episodes of mania and depression. It has a lifetime prevalence of...
Nöthen, Markus M., Cichon, Sven, Hemmer, Susanne, Hebebrand, Johannes, Remschmidt, Helmut, Lehmkuhl, Gerd, ...
We report a null mutation in the first exon of the human dopamlne D4 receptor (DRD4) gene. The mutation Is predicted to result in a truncated non-functional protein and is the first natural nonsense...
Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1) (1994)
Cichon, Sven, Nöthen, Markus M., Erdmann, Jeanette, Propping, Peter
Jönsson, Erik G, Bah, Jessica, Melke, Jonas, Abou Jamra, Rami, Schumacher, Johannes, Westberg, Lars, ...
Freudenberg-Hua, Yun, Freudenberg, Jan, Kluck, Nadine, Cichon, Sven, Propping, Peter, Nöthen, Markus M.
The detailed investigation of variation in functionally important regions of the human genome is expected to promote understanding of genetically complex diseases. We resequenced 65 candidate genes...
The FU gene and its possible protein isoforms
Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, ...
Hillmer, Axel M., Kruse, Roland, Betz, Regina C., Schumacher, Johannes, Heyn, Uwe, Propping, Peter, ...
Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36
Bosse, Kristin, Betz, Regina C., Lee, Young-Ae, Wienker, Thomas F., Reis, André, Kleen, Heidi, ...
Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third...
McQueen, Matthew B., Devlin, B., Faraone, Stephen V., Nimgaonkar, Vishwajit L., Sklar, Pamela, Smoller, Jordan W., ...
Several independent studies and meta-analyses aimed at identifying genomic regions linked to bipolar disorder (BP) have failed to find clear and consistent evidence of linkage regions. Our hypothesis...
Schumacher, Johannes, Kaneva, Radka, Jamra, Rami Abou, Diaz, Guillermo Orozco, Ohlraun, Stephanie, Milanova, Vihra, ...
We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian...
Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia
Schumacher, Johannes, Anthoni, Heidi, Dahdouh, Faten, König, Inke R., Hillmer, Axel M., Kluck, Nadine, ...
We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the...
Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
Betz, Regina C., Planko, Laura, Eigelshoven, Sibylle, Hanneken, Sandra, Pasternack, Sandra M., Büssow, Heinrich, ...
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage...
Jönsson, Erik G, Bah, Jessica, Melke, Jonas, Abou Jamra, Rami, Schumacher, Johannes, Westberg, Lars, ...
Freudenberg-Hua, Yun, Freudenberg, Jan, Kluck, Nadine, Cichon, Sven, Propping, Peter, Nöthen, Markus M.
The detailed investigation of variation in functionally important regions of the human genome is expected to promote understanding of genetically complex diseases. We resequenced 65 candidate genes...
The FU gene and its possible protein isoforms
Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, ...
The DTNBP1 (Dysbindin) Gene Contributes to Schizophrenia, Depending on Family History of the Disease
Van Den Bogaert, Ann, Schumacher, Johannes, Schulze, Thomas G., Otte, Andreas C., Ohlraun, Stephanie, Kovalenko, Svetlana, ...
We have investigated the gene for dystrobrevin-binding protein 1 (DTNBP1), or dysbindin, which has been strongly suggested as a positional candidate gene for schizophrenia, in three samples of...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, ...
Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an...
Hillmer, Axel M., Kruse, Roland, Betz, Regina C., Schumacher, Johannes, Heyn, Uwe, Propping, Peter, ...
Hillmer, Axel M., Hanneken, Sandra, Ritzmann, Sibylle, Becker, Tim, Freudenberg, Jan, Brockschmidt, Felix F., ...
Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the...
McQueen, Matthew B., Devlin, B., Faraone, Stephen V., Nimgaonkar, Vishwajit L., Sklar, Pamela, Smoller, Jordan W., ...
Several independent studies and meta-analyses aimed at identifying genomic regions linked to bipolar disorder (BP) have failed to find clear and consistent evidence of linkage regions. Our hypothesis...
Schumacher, Johannes, Kaneva, Radka, Jamra, Rami Abou, Diaz, Guillermo Orozco, Ohlraun, Stephanie, Milanova, Vihra, ...
We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian...
Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36
Bosse, Kristin, Betz, Regina C., Lee, Young-Ae, Wienker, Thomas F., Reis, André, Kleen, Heidi, ...
Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third...
Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia
Schumacher, Johannes, Anthoni, Heidi, Dahdouh, Faten, König, Inke R., Hillmer, Axel M., Kluck, Nadine, ...
We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the...
Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
Betz, Regina C., Planko, Laura, Eigelshoven, Sibylle, Hanneken, Sandra, Pasternack, Sandra M., Büssow, Heinrich, ...
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage...
Abou Jamra, Rami, Schmael, Christine, Cichon, Sven, Rietschel, Marcella, Schumacher, Johannes, Nöthen, Markus M.
In follow-up from evidence obtained in linkage studies, systematic linkage disequilibrium mapping within chromosomal region 13q33 has led to the identification of a schizophrenia susceptibility locus...
Hillmer, Axel M., Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Brockschmidt, Felix F., ...
Androgenetic alopecia (AGA, male pattern baldness) is the most common form of hair loss. The origin of AGA is genetic, with the X chromosome located androgen receptor gene (AR) being the only risk...