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R Weksberg

Showing results (71-80 of 84) with videos related to

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The American Journal of Pathology|September 12, 2000
Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescenceA Tsugu, K Sakai, P B Dirks, et al.
Human Molecular Genetics|May 1, 1993
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprintedR Weksberg, I Teshima, B R Williams, et al.
American Journal of Medical Genetics|July 31, 2001
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li, C Shuman, Y L Fei, et al.
Human Molecular Genetics|December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R Weksberg, J Nishikawa, O Caluseriu, et al.
The Journal of Pediatrics|February 1, 1996
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathyJ L Michaud, E Héon, F Guilbert, et al.
American Journal of Medical Genetics|May 2, 1997
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalitiesC A Moore, H V Toriello, D N Abuelo, et al.
Clinical Genetics|December 1, 2010
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorderM T Carter, S M Nikkel, B A Fernandez, et al.
Clinical Epigenetics|July 18, 2019
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variantsM T Siu, D T Butcher, A L Turinsky, et al.
American Journal of Human Genetics|August 1, 1996
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of diseaseM H Ruttledge, A A Andermann, C M Phelan, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN J Smilinich, C D Day, G V Fitzpatrick, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
The American Journal of Pathology|September 12, 2000
Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescenceA Tsugu, K Sakai, P B Dirks, et al.
Human Molecular Genetics|May 1, 1993
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprintedR Weksberg, I Teshima, B R Williams, et al.
American Journal of Medical Genetics|July 31, 2001
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li, C Shuman, Y L Fei, et al.
Human Molecular Genetics|December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R Weksberg, J Nishikawa, O Caluseriu, et al.
The Journal of Pediatrics|February 1, 1996
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathyJ L Michaud, E Héon, F Guilbert, et al.
American Journal of Medical Genetics|May 2, 1997
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalitiesC A Moore, H V Toriello, D N Abuelo, et al.
Clinical Genetics|December 1, 2010
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorderM T Carter, S M Nikkel, B A Fernandez, et al.
Clinical Epigenetics|July 18, 2019
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variantsM T Siu, D T Butcher, A L Turinsky, et al.
American Journal of Human Genetics|August 1, 1996
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of diseaseM H Ruttledge, A A Andermann, C M Phelan, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN J Smilinich, C D Day, G V Fitzpatrick, et al.
Pageof 9