H. Kruyer
Institut d'Investigació Biomédica de Bellvitge(ES)Duran i Reynals Hospital(ES)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Neurofibromatosis and Schwannoma Cases, Sarcoma Diagnosis and Treatment, Neonatal Respiratory Health Research, Tracheal and airway disorders
Most-Cited Works
- → A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands(1987)335 cited
- → Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas(1997)244 cited
- → Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients(1996)98 cited
- → Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene(1991)96 cited
- Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.(1994)
- → A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene(1998)64 cited
- Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.(1988)
- → LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS(1985)45 cited
- Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.(1995)
- → Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families(1994)25 cited