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...
Rietschel, Marcella, Beckmann, Lars, Strohmeier, Jana, Georgi, Alexander, Karpushova, Anna, Schirmbeck, Frederike, ...
OBJECTIVE: G72 is among the most frequently replicated vulnerability genes for schizophrenia and bipolar disorder. The authors previously found identical haplotypes of markers M23 and M24 to be...
Identification of loci associated with schizophrenia by genome-wide association and follow-up (2008)
Donovan, Michael C., Craddock, Nicholas, Norton, Nadine, Williams, Hywel, Peirce, Timothy, Moskvina, Valentina, ...
We carried out a genome-wide association study of schizophrenia (479 cases, 2,937 controls) and tested loci with P < 10-5 in up to 16,726 additional subjects. Of 12 loci followed up, 3 had strong...
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...
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease (2008)
Metzger, Silke, Rong, Juan, Nguyen, Huu-Phuc, Cape, Austin, Tomiuk, Juergen, Soehn, Anne S., ...
A polyglutamine repeat expansion of more than 36 units in a protein called huntingtin (htt) is the only known cause of Huntington's disease (HD). The expanded repeat length is inversely correlated...
Etain, Bruno, Mathieu, Flavie, Rietschel, Marcella, Maier, Wolfgang, Albus, Margot, Mckeon, Patrick, ...
Preliminary studies suggested that age at onset (AAO) may help to define homogeneous bipolar affective disorder (BPAD) subtypes. This candidate symptom approach might be useful to identify...
Etain, Bruno, Mathieu, Flavie, Rietschel, Marcella, Maier, Wolfgang, Albus, Margot, Mckeon, Patrick, ...
Preliminary studies suggested that age at onset (AAO) may help to define homogeneous bipolar affective disorder (BPAD) subtypes. This candidate symptom approach might be useful to identify...
Etain, Bruno, Mathieu, Flavie, Rietschel, Marcella, Maier, Wolfgang, Albus, Margot, Mckeon, Patrick, ...
Preliminary studies suggested that age at onset (AAO) may help to define homogeneous bipolar affective disorder (BPAD) subtypes. This candidate symptom approach might be useful to identify...
Zahn, Susanne, Ehrbrecht, Antje, Bosse, Kristin, Kalscheuer, Vera M., Propping, Peter, Schwanitz, Gesa, ...
We report on two cases of distal monosomy 11q and partial trisomy 16q due to a familial subtle translocation detected by FISH subtelomere screening. Exact breakpoint analyses by FISH with panels of...
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...
Engels,Hartmut, Ehrbrecht,Antje, Zahn,Susanne, Bosse,Kristin, Vrolijk,Hans, White,Stefan, ...
Cryptic subtelomeric chromosome rearrangements play an important role in the aetiology of mental retardation, congenital anomalies, miscarriages and neoplasia. To facilitate a comprehensive...
Engels, Hartmut, Ehrbrecht, Antje, Zahn, Susanne, Bosse, Kristin, Vrolijk, Hans, White, Stefan, ...
Cryptic subtelomeric chromosome rearrangements play an important role in the aetiology of mental retardation, congenital anomalies, miscarriages and neoplasia. To facilitate a comprehensive...
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...
Duijf, Pascal H. G., Vanmolkot, Kaate R. J., Propping, Peter, Friedl, Waltraut, Krieger, Elmar, McKeon, Frank, ...
The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin, nails, teeth, hair, glands), lip and palate. Mutations in the p63 gene...
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...
Caspari, Reiner, Olschwang, Sylciane, Friedl, Waltraut, Mandl, Marion, Boisson, Cécile, Böker, Thorsten, ...
An earlier study has shown that FAP patients with mutations in codons 136–302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with...
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...
Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene (1994)
Paffenholz, Ralner, Mandl, Marion, Caspari, Reiner, Sengteller, Marlies, Propping, Peter, Friedl, Waltraut
Mandl, Marion, Paffenholz, Rainer, Friedl, Waltraut, Caspari, Reiner, Sengteller, Marlles, Propping, Peter
In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the 20.8% of the index patients by a single...
Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1) (1994)
Cichon, Sven, Nöthen, Markus M., Erdmann, Jeanette, Propping, Peter
Mandl, Marion, Kadmon, Martina, Sengteller, Marlies, Caspari, Reiner, Propping, Peter, Friedl, Waltraut
Further RFLPs at the human tyrosine hydroxylase locus (1988)
Körner, Judith, Uhlhaas, Siegfried, Mallet, Jaques, Propping, Peter, Gal, Andreas
Heidelberg, Univ., Habil.-Schr., 1976 (Nicht f.d. Austausch).
Berlin [West], F. U., Med. F., Diss. v. 21. April 1970.
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...
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...
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 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...
Pagenstecher, Constanze, Gadzicki, Dorothea, Stienen, Dietlinde, Uhlhaas, Siegfried, Mangold, Elisabeth, Rahner, Nils, ...
Germline mutations in the tumor suppressor gene APC are the underlying cause of familial adenomatous polyposis, an autosomal-dominant cancer predisposition syndrome of the colorectum. Here, we...