Publikationen von S. Mundlos
Alle Typen
Zeitschriftenartikel (266)
141.
Zeitschriftenartikel
240 (5), S. 990 - 1004 (2011)
Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn 142.
Zeitschriftenartikel
155A (5), S. 943 - 68 (2011)
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 143.
Zeitschriftenartikel
13 (6), S. 582 - 594 (2010)
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies. 144.
Zeitschriftenartikel
152A (12), S. 3016 - 3021 (2010)
Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics Part A 145.
Zeitschriftenartikel
152A (11), S. 2832 - 2837 (2010)
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Medical Genetics Part A 146.
Zeitschriftenartikel
42 (10), S. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 147.
Zeitschriftenartikel
42 (10), S. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 148.
Zeitschriftenartikel
42 (10), S. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 149.
Zeitschriftenartikel
87 (2), S. 265 - 273 (2010)
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics 150.
Zeitschriftenartikel
107 (32), S. 14211 - 14216 (2010)
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. Proceedings of the National Academy of Sciences U S A 151.
Zeitschriftenartikel
18 (12), S. 1310 - 1314 (2010)
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics 152.
Zeitschriftenartikel
31 (8), S. E1587 - 93 (2010)
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation 153.
Zeitschriftenartikel
120 (6), S. 1994 - 2004 (2010)
Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. Journal of Clinical Investigation 154.
Zeitschriftenartikel
1 (4), S. 354 - 366 (2010)
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus 155.
Zeitschriftenartikel
77 (6), S. 525 - 534 (2010)
The human phenotype ontology. Clinical Genetics 156.
Zeitschriftenartikel
239 (6), S. 1779 - 1788 (2010)
Expression patterns of sulfatase genes in the developing mouse embryo. Developmental Dynamics 157.
Zeitschriftenartikel
86 (3), S. 434 - 439 (2010)
Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics 158.
Zeitschriftenartikel
24 (7), S. 2417 - 2426 (2010)
Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. The FASEB Journal 159.
Zeitschriftenartikel
56 (2), S. 58 - 65 (2010)
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation. Folia Biologica 160.
Zeitschriftenartikel
390 (2), S. 211 - 216 (2009)
The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. Biochemical and Biophysical Research Communications