Genotype analysis of the NF1 gene in the French Canadians from the Québec population

American Journal of Medical Genetics

Volumn 104, Issue 3, 2001, Pages 189-198

  Fang, Lijuan ^a   Chalhoub, Nader ^a   Li, Wentian ^b   Feingold, Josué ^c   Ortenberg, June ^d   Lemieux, Bernard ^a   Thirion, Jean Paul ^a  

^a UNIVERSITÉ DE SHERBROOKE   (Canada)

^b ROCKEFELLER UNIVERSITY   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

French Canadians; Genotype analysis; Microdeletion; Neurofibromatosis type 1; NF1

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CHROMOSOME BREAKAGE; ETHNIC GROUP; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENOTYPE; HUMAN; MICROSATELLITE INSTABILITY; MULTIGENE FAMILY; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; CANADA; DNA; FAMILY HEALTH; FEMALE; FRANCE; GENE DELETION; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; QUEBEC;

EID: 0035576351     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10034     Document Type: Article

References (41)

1. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
2. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association
3. Demystified: Microsatellites
4. Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
5. Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
6. Unequal meiotic crossover: A frequent cause of NF1 microdeletions
7. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
8. A novel and very peculiar HincII polymorphism in the 5′ region of the human neurofibromatosis type 1 (NF1) gene
9. Microsatellite instability
10. An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1) gene
11. A deletion in the 5′-region of the neurofibromatosis type 1 (NF1) gene
12. Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: Implications for gene mapping
13. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism
14. Deletions spanning the neurofibromatosis 1 gene: Identification and phenotype of five patients
15. Parametric and non-parametric linkage analysis: A unified multipoint approach
16. A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene
17. Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene
18. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
19. Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata
20. Genomic organization of the Neurofibromatosis 1 gene (NF1)
21. The instability within: Problems in current analyses of microsatellite instability
22. Lack of independence between five DNA polymorphisms in the NF1 gene
23. Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population
24. Alterations of microsatellites in neurofibromas of von Recklinghausen disease
25. Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus
26. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1
27. An EcoRI RFLP in the 5′ region of the human NF1 gene
28. Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome
29. NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
30. Neurofibromatosis
31. Do NF1 gene deletions result in a characteristic phenotype?
32. A cytogenetic deletion, del(17)(q11.22-q21.1) in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay
33. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
34. Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counseling
35. Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients
36. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
37. Deletion of the entire NF1gene detected by FISH: Four deletion patients associated with severe manifestations
38. Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
39. Deletion of the entire NF1 gene causing distinct manifestations in a family