LR Osborne

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia (2006)

Feuk, L, Kalervo, A, Lipsanen-nyman, M, Skaug, J, Nakabayashi, K, Finucane, B, ...

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2...

Human Chromosome 7: DNA sequence and biology (2003)

Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, ...

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description,...

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients (2002)

Wu, YQ, Bejjani, BA, Tsui, L-C, Mandel, A, Osborne, LR, Shaffer, LG

Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is...

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome (2001)

Osborne, LR, Li, M, Pober, B, Chitayat, D, Bodurtha, J, Mandel, A, ...

Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases,...

The BCL7 gene family: deletion of BCL7B in Williams syndrome (1998)

Jadayel, DM, Osborne, LR, Coignet, LJA, Zani, VJ, Tsui, L-C, Scherer, SW, ...

The BCL7A gene, which maps to human chromosome 12q24.13, was cloned through its direct involvement with MYC and IGH in a three-way translocation in a Burkitt lymphoma cell line. Here, we describe the...

Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome: Letters to the editor (1997)

Osborne, LR, Soder, S, Shi, XM, Pober, B, Costa, T, Scherer, SW, ...

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7 (1997)

Osborne, LR, Herbick, J-A, Greavette, T, Heng, HHQ, Tsui, L-C, Scherer, SW

The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously...

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients (1996)

Osborne, LR, Martindale, D, Scherer, SW, Shi, X-M, Huizenga, J, Heng, HHQ, ...

Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and...