Search | OpenScholar

Search results

190 results found

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Publication: Journal Article

Gazda, Lipton, Willig, Ball, Niemeyer, Tchernia, Mohandas, et al. 2001. “Evidence for Linkage of Familial Diamond-Blackfan Anemia to Chromosome 8p23.3-P22 and for Non-19q Non-8p Disease.”. Blood 97 (7): 2145-50.

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

Publication: Journal Article

Kaplan, Kim, North, Rennke, Correia, Tong, Mathis, et al. 2000. “Mutations in ACTN4, Encoding Alpha-Actinin-4, Cause Familial Focal Segmental Glomerulosclerosis.”. Nat Genet 24 (3): 251-6.

Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.

Publication: Journal Article

Chan, Tong, AH Beggs, and Kunkel. 1998. “Human Skeletal Muscle-Specific Alpha-Actinin-2 and -3 Isoforms Form Homodimers and Heterodimers in Vitro and in Vivo.”. Biochem Biophys Res Commun 248 (1): 134-9.

Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain.

Publication: Journal Article

Wyszynski, Kharazia, Shanghvi, Rao, AH Beggs, Craig, Weinberg, and Sheng. 1998. “Differential Regional Expression and Ultrastructural Localization of Alpha-Actinin-2, a Putative NMDA Receptor-Anchoring Protein, in Rat Brain.”. J Neurosci 18 (4): 1383-92.

The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.

Publication: Journal Article

Khurana, Specht, AH Beggs, Tomé, Letureq, Chevallay, Chafey, and Kunkel. 1997. “The Concomitant Use of Dystrophin and Utrophin/Dystrophin Related Protein Antibodies to Reduce Misdiagnosis of Duchenne/Becker Muscular Dystrophy.”. Biochem Biophys Res Commun 241 (2): 232-5.

The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.

Publication: Journal Article

Scharf, Damron, Frisella, Bruno, AH Beggs, Kunkel, and Dietrich. 1996. “The Mouse Region Syntenic for Human Spinal Muscular Atrophy Lies Within the Lgn1 Critical Interval and Contains Multiple Copies of Naip Exon 5.”. Genomics 38 (3): 405-17.

Congenital muscular dystrophy associated with merosin deficiency.

Publication: Journal Article

North, Specht, Sethi, Shapiro, and AH Beggs. 1996. “Congenital Muscular Dystrophy Associated With Merosin Deficiency.”. J Child Neurol 11 (4): 291-5.

Microsatellite instability analysis of primary human brain tumors.

Publication: Journal Article

Zhu, Guo, AH Beggs, Maruyama, Santarius, Dashner, Olsen, Wu, and Black. 1996. “Microsatellite Instability Analysis of Primary Human Brain Tumors.”. Oncogene 12 (7): 1417-23.

Analysis of meningiomas by methylation- and transcription-based clonality assays.

Publication: Journal Article

Zhu, Frosch, Busque, AH Beggs, Dashner, Gilliland, and Black. 1995. “Analysis of Meningiomas by Methylation- and Transcription-Based Clonality Assays.”. Cancer Res 55 (17): 3865-72.

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

Publication: Journal Article

Passos-Bueno, Byth, Rosenberg, Takata, Bakker, AH Beggs, Pavanello, Vainzof, Davies, and Zatz. 1993. “Severe Nonspecific X-Linked Mental Retardation Caused by a Proximally Xp Located Gene: Intragenic Heterogeneity or a New Form of X-Linked Mental Retardation?”. Am J Med Genet 46 (2): 172-5.