Denise Horn

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures (2008)

Busche, Andreas, Klopocki, Eva, Ullmann, Reinhard, Mundlos, Stefan, Horn, Denise

We report on a 26-year-old woman with microcephaly, typical facial features of 9q subtelomeric deletion syndrome, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no...

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH (2008)

Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, ...

We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed;...

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (2008)

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, ...

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a...

HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects (2008)

Raile, Klemens, Klopocki, Eva, Wessel, Theda, Deiss, Dorothee, Horn, Denise, Müller, Dominik, ...

Mature-onset diabetes of the young 5 (MODY5) is characterized by a wide clinical spectrum, including diabetes and kidney disease (1–3). Associated gene defects are either mutations within HNF1B or...

Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 (2008)

Seifert, Wenke, Holder-Espinasse, Muriel, Kühnisch, Jirko, Kahrizi, Kimia, Tzschach, Andreas, Garshasbi, Masoud, ...

Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been...

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease (2008)

Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of...

Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 (2008)

Seifert, Wenke, Holder-Espinasse, Muriel, Kühnisch, Jirko, Kahrizi, Kimia, Tzschach, Andreas, Garshasbi, Masoud, ...

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. (2007)

Zenker, Martin, Lehmann, Katarina, Schulz, Anna Leana, Barth, Helmut, Hansmann, Dagmar, Koenig, Rainer, ...

Background: Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of...

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome (2007)

Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, Van Der Burgt, Ineke, ...

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes (2003)

Tuerkmen,Seval, Gillessen-Kaesbach,Gabriele, Meinecke,Peter, Albrecht,Beate, Neumann,Luitgard M., Hesse,Volker, ...

Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations...

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region (2003)

Horn,Denise, Neitzel,Heidemarie, Tonnies,Holger, Kalscheuer,Vera, Kunze,Jürgen, Hinkel,Georg Klaus, ...

We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically....

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region (2003)

Horn, Denise, Neitzel, Heidemarie, Tonnies, Holger, Kalscheuer, Vera, Kunze, Jürgen, Hinkel, Georg Klaus, ...

We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically....

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes (2003)

Tuerkmen, Seval, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Albrecht, Beate, Neumann, Luitgard M., Hesse, Volker, ...

Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations...

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,...

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, ...

Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism,...

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,...

Walking the Interactome for Prioritization of Candidate Disease Genes

Köhler, Sebastian, Bauer, Sebastian, Horn, Denise, Robinson, Peter N.

The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there...

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of...

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, ...

We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed;...