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American Journal of Medical Genetics|January 9, 2001
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotypeF Natacci, L Corrado, M Pierri, et al.
American Journal of Medical Genetics|January 9, 2001
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasiaP Iughetti, L G Alonso, W Wilcox, et al.
American Journal of Medical Genetics|February 17, 2001
FMR1 gene and fragile X syndromeB Bardoni, J L Mandel, G S Fisch
American Journal of Medical Genetics|October 20, 2000
Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease?S Ishikawa, M Ishikawa, T Tokuda, et al.
American Journal of Medical Genetics|October 20, 2000
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndromeJ McGaughran, S Aftimos, P Oei
American Journal of Medical Genetics|August 5, 2000
Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumorZ E Karanjawala, H Kääriäinen, S Ghosh, et al.
American Journal of Medical Genetics|August 5, 2000
Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15E Olander, J Stamberg, L Steinberg, et al.
American Journal of Medical Genetics|August 5, 2000
Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndromeE Gilbert-Barness, M M Cohen, J M Opitz
American Journal of Medical Genetics|August 5, 2000
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndromeW Courtens, A Rassart, J J Stene, et al.
American Journal of Medical Genetics|August 22, 2000
Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-->qter: molecular cytogenetic analysis and clinical phenotype in two generationsF Speleman, B Callens, K Logghe, et al.
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