1,054 results on '"Francke, U."'
Search Results
2. Adelheidis-Stift
3. Cloning, Sequencing, and Expression of the Gene Coding for the Human Platelet $\alpha _{2}$-Adrenergic Receptor
4. Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations: an international study
5. Expression of human Wiskott–Aldrich syndrome protein in patients’ cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins
6. The new Ghent criteria for Marfan syndrome: what do they change?
7. Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
8. The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
9. The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome
10. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure
11. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
12. Rapid evolution of human pseudoautosomal genes and their mouse homologs
13. Mapping of human and murine genes for latent TGF-β binding protein-2 (LTBP2)
14. Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human Chromosome 5, band q34, and proximal mouse Chromosome 11
15. Human cyclin B1 gene (CCNB1) assigned to chromosome 5 (q13-qter)
16. Tumor necrosis factor receptor genes,TNFR1 andTNFR2, on human chromosomes 12 and 1
17. The serotonin receptor subtype 2 locusHTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14
18. A regular pattern of two types of 100-residue motif in the sequence of titin
19. Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)
20. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
21. Eine mittelalterliche Wüstung bei Dormagen, Kr. Neuss
22. Experience with Detection of Heterozygous Carriers and Prenatal Diagnosis of Lesch-Nyhan Disease
23. Variation in Human HPRT and Its Relationship to Neurologic and Behavioral Manifestations
24. Acquisition of a Novel T Cell Surface Protein During Intrathymic T Cell Maturation Encoded for by the Short Arm of Chromosome 11
25. Genetic Characterization of a Human Endogenous Retroviral Element Located on Chromosome 18q21
26. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
27. Association of acetylated histones with paternally expressed genes in the Prader-Willi/Angelmen syndrome region
28. Rett syndrome is caused by mutations in the X-linked MECP2 gene encoding methyl-CpG-binding protein 2
29. Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13
30. Activation of humanα 1-antitrypsin gene in rat hepatoma × human fetal liver cell hybrids depends on presence of human chromosome 14
31. Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy
32. The physical map ofMus musculus chromosome 11 reveals evolutionary relationship with different syntenic groups of genes inHomo sapiens
33. Chromosome localization and cDNA sequence of murine and human genes forras p21 GTPase activating protein (GAP)
34. Insulin-like growth factor I receptor gene is concordant with C-fes protooncogene and mouse chromosome 7 in somatic cell hybrids
35. Genes for HMG-CoA reductase and serotonin 1a receptor are on mouse chromosome 13
36. Absence of H-Y antigen in an XY female with campomelic dysplasia
37. Chromosome mapping of human cell surface molecules: Monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11
38. Supermelanotic hybrids derived from mouse melanomas and normal mouse cells
39. Genes forβ 2-adrenergic receptor and platelet-derived growth factor receptor map to mouse chromosome 18
40. CD14 is a member of the family of leucine-rich proteins and is encoded by a gene syntenic with multiple receptor genes
41. Microdeletions and Mendelian Phenotypes
42. Gene forα2(I) collagen is on mouse chromosome 6 not 16
43. Cloning, sequencing, and expression of the gene coding for the human platelet alpha-2-adrenergic receptor
44. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
45. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
46. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
47. Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21
48. The new Ghent criteria for Marfan syndrome: what do they change?
49. Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region
50. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
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