Jacek Szudek
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Jacek Szudek has a total of 5 co-authors. Here are the top co-authors by number of shared publications:
- Patricia Birch
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
3 shared publications - Jan Marshall Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada
2 shared publications - Dafydd Gareth Evans
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK
1 shared publication J.M. Friedman
Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
1 shared publicationV.M. Riccardi
American Medical Consumers, La Crescenta, California
1 shared publication
Latest Publications
- Open Access
- 1 December 2000
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (12) , 933-938
Growth in North American white children with neurofibromatosis 1 (NF1)
OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey. SETTING The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS A total of 569 white, North American, NF1 patients, 55% female and 45% male. MAIN OUTCOME MEASURES Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. RESULTS The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (⩾2 standard deviations below the population mean) and 24% have macrocephaly (OFC ⩾2 standard deviations above the population mean). CONCLUSIONS Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.
- 1 December 2000
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (12) , 933-938
Open AccessGrowth in North American white children with neurofibromatosis 1 (NF1)
OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey. SETTING The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS A total of 569 white, North American, NF1 patients, 55% female and 45% male. MAIN OUTCOME MEASURES Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. RESULTS The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (⩾2 standard deviations below the population mean) and 24% have macrocephaly (OFC ⩾2 standard deviations above the population mean). CONCLUSIONS Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.
- 30 November 2000
- Published by Wiley in Genetic Epidemiology
- Vol. 19 (4) , 429-439
Associations of clinical features in neurofibromatosis 1 (NF1)
- 30 November 2000
- Published by Wiley in Genetic Epidemiology
- Vol. 19 (4) , 429-439
Associations of clinical features in neurofibromatosis 1 (NF1)
- 22 May 2000
- Published by Wiley in American Journal of Medical Genetics
- Vol. 92 (3) , 224-227
Growth charts for young children with neurofibromatosis 1 (NF1)
- 22 May 2000
- Published by Wiley in American Journal of Medical Genetics
- Vol. 92 (3) , 224-227
Growth charts for young children with neurofibromatosis 1 (NF1)