Franz Rüschendorf

Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis (2007)

Cilla Söderhäll, Ingo Marenholz, Tamara Kerscher, Franz Rüschendorf, Jorge Esparza-Gordillo, Margitta Worm, ...

Atopic dermatitis (AD) is a common chronic inflammatory skin disorder and a major manifestation of allergic disease. AD typically presents in early childhood often preceding the onset of an allergic...

Genome-Wide Linkage Analysis of Malaria Infection Intensity and Mild Disease (2007)

Christian Timmann, Jennifer A. Evans, Inke R. König, André Kleensang, Franz Rüschendorf, Julia Lenzen, ...

Although balancing selection with the sickle-cell trait and other red blood cell disorders has emphasized the interaction between malaria and human genetics, no systematic approach has so far been...

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. (2007)

Najmabadi, Hossein, Motazacker, Mohammad Mahdi, Garshasbi, Masoud, Kahrizi, Kimia, Tzschach, Andreas, Chen, Wei, ...

Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with...

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly (2006)

Garshasbi, Masoud, Motazacker, Mohammad Mahdi, Kahrizi, Kimia, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, ...

Very little is known about the molecular basis of autosomal recessive MR (ARMR) because in developed countries, small family sizes preclude mapping and identification of the relevant gene defects. We...

Linkage analysis of alcohol dependence using MOD scores (2005)

Strauch, Konstantin, Fürst, Robert, Rüschendorf, Franz, Windemuth, Christine, Dietter, Johannes, Flaquer, Antonia, ...

Abstract Alcohol dependence is a typical example of a complex trait that is governed by several genes and for which the mode of inheritance is unknown. We analyzed the microsatellite markers and the...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families (2005)

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Abstract Background Asthma is a complex genetic disease with more than 20 genome-wide scans conducted so far. Regions on almost every chromosome have been linked to asthma and several genes have been...

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002)

Sander,Thomas, Toliat,Mohammad Reza, Heils,Armin, Leschik,Gundula, Becker,Christian, Rüschendorf,Franz, ...

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). Our recent genome-wide search revealed suggestive evidence for a susceptibility locus for common IGE...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 (2002)

Schuermann,Maria J., Otto,Edgar, Becker,Achim, Saar,Katrin, Rüschendorf,Franz, Polak,Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002)

Sander, Thomas, Toliat, Mohammad Reza, Heils, Armin, Leschik, Gundula, Becker, Christian, Rüschendorf, Franz, ...

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). Our recent genome-wide search revealed suggestive evidence for a susceptibility locus for common IGE...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 (2002)

Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, ...

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In...

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, ...

Psoriasis is a common chronic inflammatory skin disease with a strong genetic component. Few psoriasis-susceptibility loci have been reported, and only two have been confirmed in independent data...

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

Stöber, Gerald, Saar, Kathrin, Rüschendorf, Franz, Meyer, Jobst, Nürnberg, Gudrun, Jatzke, Susanne, ...

The nature of subtypes in schizophrenia and the meaning of heterogeneity in schizophrenia have been considered a principal controversy in psychiatric research. We addressed these issues in periodic...

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Omran, Heymut, Fernandez, Carmen, Jung, Martin, Häffner, Karsten, Fargier, Bernardo, Villaquiran, Aminta, ...

Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to...

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Thiel, Christian T., Horn, Denise, Zabel, Bernhard, Ekici, Arif B., Salinas, Kelly, Gebhart, Erich, ...

The growth of an individual is deeply influenced by the regulation of cell growth and division, both of which also contribute to a wide variety of pathological conditions, including cancer, diabetes,...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36

Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, ...

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In...

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Thiel, Christian T., Horn, Denise, Zabel, Bernhard, Ekici, Arif B., Salinas, Kelly, Gebhart, Erich, ...

The growth of an individual is deeply influenced by the regulation of cell growth and division, both of which also contribute to a wide variety of pathological conditions, including cancer, diabetes,...

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, ...

Psoriasis is a common chronic inflammatory skin disease with a strong genetic component. Few psoriasis-susceptibility loci have been reported, and only two have been confirmed in independent data...

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

Stöber, Gerald, Saar, Kathrin, Rüschendorf, Franz, Meyer, Jobst, Nürnberg, Gudrun, Jatzke, Susanne, ...

The nature of subtypes in schizophrenia and the meaning of heterogeneity in schizophrenia have been considered a principal controversy in psychiatric research. We addressed these issues in periodic...

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Omran, Heymut, Fernandez, Carmen, Jung, Martin, Häffner, Karsten, Fargier, Bernardo, Villaquiran, Aminta, ...

Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to...

Genome-Wide Linkage Analysis of Malaria Infection Intensity and Mild Disease

Timmann, Christian, Evans, Jennifer A, König, Inke R, Kleensang, André, Rüschendorf, Franz, Lenzen, Julia, ...

Although balancing selection with the sickle-cell trait and other red blood cell disorders has emphasized the interaction between malaria and human genetics, no systematic approach has so far been...

Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p

Lee-Kirsch, Min Ae, Gong, Maolian, Schulz, Herbert, Rüschendorf, Franz, Stein, Annette, Pfeiffer, Christiane, ...

Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune...

Linkage analysis of alcohol dependence using MOD scores

Strauch, Konstantin, Fürst, Robert, Rüschendorf, Franz, Windemuth, Christine, Dietter, Johannes, Flaquer, Antonia, ...

Alcohol dependence is a typical example of a complex trait that is governed by several genes and for which the mode of inheritance is unknown. We analyzed the microsatellite markers and the...

Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis

Söderhäll, Cilla, Marenholz, Ingo, Kerscher, Tamara, Rüschendorf, Franz, Esparza-Gordillo, Jorge, Worm, Margitta, ...

Atopic dermatitis (AD) is a common chronic inflammatory skin disorder and a major manifestation of allergic disease. AD typically presents in early childhood often preceding the onset of an allergic...