Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24

Genomics

Volumn 71, Issue 2, 2001, Pages 174-181

  Dorr, Sylvia ^a   Midro, Alina T ^b   Färber, Claudia ^a   Giannakudis, Joannis ^a   Hansmann, Ingo ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; EXPRESSED SEQUENCE TAG; GENE CONSTRUCT; GENE DUPLICATION; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; SILVER RUSSELL SYNDROME;

BACTERIA (MICROORGANISMS);

EID: 0035862554     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6413     Document Type: Article

References (56)

1. Autosomal dominant Russell-Silver syndrome
2. Molecular cytogenetic mapping of 24 CEPH YACs and 24 gene-specific large insert probes to chromosome 17
3. Increased copy number at 17q22-q24 by CGH in breast cancer is due to high-level amplification of two separate regions
4. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication
5. Deletion short arm 18 and Silver-Russell syndrome
6. RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1
7. Rch1, a protein that specifically interacts with the RAG-1 recombination-activating protein
8. Adolescent growth and pubertal progression in the Silver-Russell syndrome
9. A comprehensive genetic map of the human genome based on 5,264 microsatellites
10. Report of the First International Workshop on Human Chromosome 15 Mapping
11. Three-generation dominant transmission of the Silver-Russell syndrome
12. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
13. Loss of IGF-1 receptor gene in patients with ring chromosome 15 is related to Russell-Silver like phenotype
14. The Russell-Silver syndrome: Report of three siblings
15. Nucleocytoplasmic transport
16. High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization
17. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
18. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
19. Russell-Silver syndrome (RSS) associated with dup(1)(q42 → qter)
20. Gains and losses of DNA sequences in malignant mesothelioma by comparative genomic hybridization
21. Evidence for distinct substrate specificities of importin alpha family members in nuclear protein import
22. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
23. Genomewide scan of multiple sclerosis in Finnish multiplex families
24. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
25. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
26. Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
27. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
28. Cloning and characterization of hSRP1 gamma, a tissue-specific nuclear transport factor
29. Russell-Silver syndrome
30. Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources
31. Interstitial deletion of 18 (p11.22-p11.23) in a patient with phenotype of Russell-Silver syndrome
32. NPI-1, the human homolog of SRP-1, interacts with influenza virus nucleoprotein
33. Cytogenetic analysis using quantitative high-sensitivity, fluorescence hybridization
34. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUDP7 Silver-Russell syndrome probands
35. Maternal uniparental disomy 7 in Silver-Russell syndrome
36. Severe Silver-Russell syndrome and translocation (17;20)(q25;q13)
37. Comparative genomic hybridization of formalin-fixed, paraffin-embedded breast tumors reveals different patterns of chromosomal gains and losses in fibroadenomas and diploid and aneuploid carcinomas
38. The Silver syndrome in twins
39. An infant with deletion of the distal long arm of chromosome 15(q26.1-qter) and loss of insulin-like growth factor 1 receptor gene
40. Silver-Russell syndrome: A family with symmetric and asymmetric siblings
41. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
42. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22
43. An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features
44. Cloning of a cDNA encoding a novel importin-alpha homologue Qip1: Discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL
45. Chromosome 7 uniparental disomy in Silver-Russell syndrome
46. Isolation and mapping of karyopherin alpha 3 (KPNA3), a human gene that is highly homologous to genes encoding Xenopus importin, yeast SRP1 and human RCH1
47. Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
48. Autosomal recessive Silver-Russell syndrome
49. Molecular cytogenetics of primary breast cancer by CGH
50. Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: Toward a genetic model of meningioma progression
51. Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization
52. Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences
53. Phenotyping delineation of ring chromosome 15 and Russell - Silver syndromes
54. Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
55. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
56. La sindrome di Silver-Russell. Presentazione di un casi ad ereditarietà autosomica dominante