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RoFo Fortschritte auf dem Gebiet der Rontgenstrahlen und der Bildgebenden Verfahren, ISSN 1438-9029, 2017, Volume 189, Issue 7, pp. 675 - 677
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 132 - 137
Journal Article
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15861
Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a... 
INFANTILE SYSTEMIC HYALINOSIS | FIBROSIS | SERINE PROTEINASES | TGF-BETA | MULTIDISCIPLINARY SCIENCES | MOUSE | CAPILLARY MORPHOGENESIS PROTEIN-2 | ANTHRAX TOXIN | RECEPTOR | MUTATIONS | EXPRESSION
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2012, Volume 109, Issue 21, pp. 8155 - 8160
Metastasis from primary tumors remains a major problem for tumor therapy. In the search for markers of metastasis and more effective therapies, the tumor... 
Enzymes | Cell lines | Small interfering RNA | Lipids | Breast cancer | Lipid metabolism | Metastasis | Endometrial neoplasms | Tumors | Cancer | Glycerophosphodiester phosphodiesterase domain containing 6 | Glycerophosphocholine phosphodiesterase GDE1 homolog (Saccharomyces cerevisiae) | Lysophosphatidic acid | Glycerophosphodiesterase 5 | Phosphatidic acid | PHOSPHOLIPID-METABOLISM | MULTIDISCIPLINARY SCIENCES | PKC-ALPHA | KINASE | glycerophosphodiesterase 5 | glycerophosphodiester phosphodiesterase domain containing 6 | KAPPA-B | glycerophosphocholine phosphodiesterase GDE1 homolog (Saccharomyces cerevisiae) | BREAST-CANCER | LUNG-CANCER | OVEREXPRESSION | lysophosphatidic acid | phosphatidic acid | PHOSPHODIESTERASE | EXPRESSION | Choline - metabolism | Breast Neoplasms - secondary | Endometrial Neoplasms - enzymology | Phosphoric Diester Hydrolases - metabolism | Protein Kinase C-alpha - metabolism | Humans | Mice, Inbred C57BL | Phosphoric Diester Hydrolases - genetics | Cell Movement - physiology | Ovarian Neoplasms - enzymology | Phospholipases - genetics | Breast Neoplasms - enzymology | Ovarian Neoplasms - secondary | Animals | Endometrial Neoplasms - secondary | Phospholipases - metabolism | Cell Line, Tumor | Female | Signal Transduction - physiology | Mice | Choline | Physiological aspects | Development and progression | Research | Phosphodiesterases | Health aspects | Cell migration | Biological Sciences
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1274 - 1279
Whole-exome sequencing allows for an unbiased and comprehensive mutation screening. Although successfully used to facilitate the diagnosis of single-gene... 
EXOME | SECONDARY HYPOCALCEMIA | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISORDERS | MUTATIONS | TRPM6 | THYROGLOBULIN GENE | DISCOVERY | GENOME | HYPOMAGNESEMIA | Intestinal Diseases - complications | Lipid Metabolism, Inborn Errors - genetics | Lipoproteins - genetics | Humans | Hypothyroidism - complications | Male | Magnesium Deficiency - diagnosis | Young Adult | Magnesium Deficiency - genetics | Magnesium Deficiency - complications | RNA Splicing | Female | Hypothyroidism - genetics | Phytosterols - adverse effects | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Hypothyroidism - diagnosis | Phytosterols - genetics | Intestinal Diseases - diagnosis | Phenotype | Pedigree | Adolescent | Hypercholesterolemia - diagnosis | Thyroglobulin - genetics | TRPM Cation Channels - genetics | Hypercholesterolemia - complications | Consanguinity | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Mutation | ATP Binding Cassette Transporter, Sub-Family G, Member 5 - genetics | Alternative splicing | Pediatrics | Phenotypes | Congenital diseases | Internal medicine | Genomes | Thyroid gland | Sitosterolemia | Hypothyroidism | Patients | Medicine | Transient receptor potential proteins | Hypercholesterolemia | Sterols | Thyroglobulin | Atherosclerosis | Genetics | Magnesium | Diagnosis | Bioinformatics | Hypomagnesemia | Genotypes
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 01/2017, Volume 102, Issue 1, pp. 210 - 219
Journal Article
Scientific Reports, ISSN 2045-2322, 2017, Volume 7, Issue 1, pp. 1 - 15
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 08/2012, Volume 160C, Issue 3, pp. 190 - 204
Journal Article
Human Mutation, ISSN 1059-7794, 01/2017, Volume 38, Issue 1, pp. 34 - 38
Journal Article