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Your search keyword '"Hoeltzenbein, Maria"' showing total 5 results
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5 results on '"Hoeltzenbein, Maria"'

1. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

Author

Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Yaou, Rabah Ben, and Bonne, Gisele

Subjects
Muscular dystrophy -- Genetic aspects, Gene mutations -- Analysis, Exon (Molecular genetics) -- Structure, Cardiomyopathy -- Genetic aspects, Heart diseases -- Genetic aspects, Biological sciences
Abstract

A whole-genome scan of families affected by Emery-Dreifuss muscular dystrophy (EDMD) is conducted and its linkage to Xq26.3 locus containing the FHL1 gene is identified, along with seven mutations in the distal exons of FHL1. The reduced levels of FHL1 proteins in EDMD patients, which are associated with a severe delay in myotube formation, suggest that FHL1 gene is associated with both the X-linked EDMD phenotype and hypertrophic myopathy.

Published
2009

2. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Author

Moller, Rikke S., Kubart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Ropers, Hans-Hilger, Tumer, Zeynep, and Kalscheuer, Vera M.

Subjects
Down syndrome -- Genetic aspects, Febrile convulsions -- Genetic aspects, Gene mutations -- Analysis, Microcephaly -- Genetic aspects, Biological sciences
Abstract

The truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with parental onset of microcephaly, feeding problems and febrile epilepsy is examined. The analysis proves that the truncating motions of DYRK1A lead to clinical phenotype including microcephaly.

Published
2008

3. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Author

Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Peirre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, and Kalscheuer, Vera M.

Subjects
Human genetics -- Research, Mental retardation -- Research, Biological sciences
Published
2003

4. Disruption of the serine/threonine kinase 9 gene causes severe x-linked infantile spasms and mental retardation

Author

Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kubart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, and Gecz, Jozef

Subjects
Spasms, Infantile -- Genetic aspects, Genetic disorders -- Research, Mental retardation -- Genetic aspects, Biological sciences
Published
2003

5. New Alstrom Syndrome phenotypes based on the evaluation of 182 cases

Author

Marshall, Jan D., Bronson, Roderick T., Collin, Gayle B., Nordstrom, Anne D., Maffei, Pietro, Paisey, Richard B., Carey, Catherine, MacDermott, Seamus, Russell-Eggitt, Isabelle, Shea, Sarah E., Davis, Judy, Beck, Sebastian, Shatirishvili, Gocha, Mihai, Cristina Maria, Hoeltzenbein, Maria, Pozzan, Giovanni Battista, Hopkinson, Ian, Sicolo, Nicola, Naggert, Jurgen K., and Nishina, Patsy M.

Subjects
Type 2 diabetes -- Causes of, Retinal degeneration -- Causes of, Hearing disorders -- Causes of, Genetic disorders -- Complications and side effects, Genetic disorders -- Diagnosis, Genetic disorders -- Research, Genetic disorders -- Patient outcomes, Diagnosis -- Research, Cardiomyopathy, Dilated -- Causes of, Obesity in children -- Causes of, Phenotype, Fibrosis, Health
Published
2005

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