Publications of Stefan Mundlos
All genres
Journal Article (266)
201.
Journal Article
48 (10), pp. 2063 - 2067 (2007)
Immunoglobulin receptor evolution in follicular lymphoma and a review of literature. Leukemia & Lymphoma 202.
Journal Article
81 (4), pp. 866 - 868 (2007)
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. American Journal of Human Genetics: AJHG 203.
Journal Article
81 (12), pp. 388 - 396 (2007)
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. The American Journal of Human Genetics: AJHG 204.
Journal Article
40 (3), pp. 597 - 603 (2007)
Endochondral ossification in vitro is influenced by mechanical bending. Bone 205.
Journal Article
16 (8), pp. 232 - 240 (2007)
Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 206.
Journal Article
143 (2), pp. 195 - 199 (2007)
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. American Journal of Medical Genetics/ Part A 207.
Journal Article
80 (2), pp. 232 - 240 (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 208.
Journal Article
80 (2), pp. 232 - 240 (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 209.
Journal Article
44 (2), pp. 131 - 135 (2007)
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. Journal of Medical Genetics 210.
Journal Article
7 (1 - 2), pp. 102 - 112 (2007)
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model. Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 211.
Journal Article
14 (121), pp. 1274 - 1279 (2006)
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 212.
Journal Article
14 (121), pp. 1274 - 1279 (2006)
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 213.
Journal Article
14 (12), pp. 1248 - 1254 (2006)
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. European Journal of Human Genetics 214.
Journal Article
235 (12), pp. 3456 - 3465 (2006)
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Developmental Dynamics 215.
Journal Article
70 (9), pp. 1656 - 1660 (2006)
A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 216.
Journal Article
70 (9), pp. 1656 - 1660 (2006)
A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 217.
Journal Article
11 (11), pp. 524 - 525 (2006)
Plant nitric oxide synthase: a never-ending story? Trends in Plant Science 218.
Journal Article
17, pp. 1855 - 1862 (2006)
Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment. Circulation 219.
Journal Article
133 (19), pp. 3797 - 3804 (2006)
Arteries define the position of the thyroid gland during its developmental relocalisation. Development 220.
Journal Article
6 (8), pp. 826 - 834 (2006)
Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development. Gene Expression Patterns