author-photo

Helena Kruyer

Imperial College London

29

Papers

1476

Citations

Citation Trend

Filter By

Papers (20) Sort By

Journal Conference Others

NF1 mutation rather than individual genetic variability is the main determinant of the NF1‐transcriptional profile of mutations affecting splicing

2006 Human Mutation
Show All
- Source
- Cite
- Save
Citations (21)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

2003 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (141)
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

2000 Human Molecular Genetics
Show All
- Source
- Cite
- Save
Citations (307)
Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.

1999 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (12)
Confirmation of a Double-Hit Model for the NF1 Gene in Benign Neurofibromas

1997 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (189)
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

1996 Human Genetics
Show All
- Source
- Cite
- Save
Citations (91)
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism

1995 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (40)
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

1994 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (11)
Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

1994 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (4)
Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

1994 Human Genetics
Show All
- Source
- Cite
- Save
Citations (25)