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O Zuffardi

Showing results (131-140 of 159) with videos related to

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Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.
American Journal of Human Genetics|November 1, 1995
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalC Kwok, P A Weller, S Guioli, et al.
Nature Genetics|December 1, 1993
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomesC Tyler-Smith, R J Oakey, Z Larin, et al.
Journal of Medical Genetics|June 3, 2004
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresiaR Giorda, A Cerritello, M C Bonaglia, et al.
Epilepsia|September 17, 1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical patternM P Canevini, V Sgro, O Zuffardi, et al.
American Journal of Human Genetics|July 1, 1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndromeR Carrozzo, E Rossi, S L Christian, et al.
American Journal of Human Genetics|March 7, 2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangementsS Giglio, K W Broman, N Matsumoto, et al.
American Journal of Human Genetics|April 1, 1996
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsG Floridia, M Piantanida, A Minelli, et al.
European Journal of Medical Genetics|November 8, 2006
2q24-q31 deletion: report of a case and review of the literatureC Pescucci, R Caselli, S Grosso, et al.
Journal of Human Genetics|May 16, 2007
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGHR Caselli, C Speciale, C Pescucci, et al.
Pageof 16

Showing results (131-140 of 159) with videos related to

Sort By:
Pageof 16
Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.
American Journal of Human Genetics|November 1, 1995
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalC Kwok, P A Weller, S Guioli, et al.
Nature Genetics|December 1, 1993
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomesC Tyler-Smith, R J Oakey, Z Larin, et al.
Journal of Medical Genetics|June 3, 2004
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresiaR Giorda, A Cerritello, M C Bonaglia, et al.
Epilepsia|September 17, 1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical patternM P Canevini, V Sgro, O Zuffardi, et al.
American Journal of Human Genetics|July 1, 1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndromeR Carrozzo, E Rossi, S L Christian, et al.
American Journal of Human Genetics|March 7, 2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangementsS Giglio, K W Broman, N Matsumoto, et al.
American Journal of Human Genetics|April 1, 1996
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsG Floridia, M Piantanida, A Minelli, et al.
European Journal of Medical Genetics|November 8, 2006
2q24-q31 deletion: report of a case and review of the literatureC Pescucci, R Caselli, S Grosso, et al.
Journal of Human Genetics|May 16, 2007
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGHR Caselli, C Speciale, C Pescucci, et al.
Pageof 16