Hobson GM - Search Results

1

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Among authors: hobson gm. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.

2

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.

Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Bahrambeigi V, et al. Among authors: hobson gm. Genome Med. 2019 Dec 9;11(1):80. doi: 10.1186/s13073-019-0676-0. Genome Med. 2019. PMID: 31818324 Free PMC article.

3

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Lee JA, et al. Among authors: hobson gm. Ann Neurol. 2006 Feb;59(2):398-403. doi: 10.1002/ana.20732. Ann Neurol. 2006. PMID: 16374829

4

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Hobson GM, Huang Z, Sperle K, Sistermans E, Rogan PK, Garbern JY, Kolodny E, Naidu S, Cambi F. Hobson GM, et al. Hum Mutat. 2006 Jan;27(1):69-77. doi: 10.1002/humu.20276. Hum Mutat. 2006. PMID: 16287154

5

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Beck CR, et al. Among authors: hobson gm. PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25749076 Free PMC article.

6

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).

Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis-Williams A, Banser L, Kirkham J, Brook AH. Hobson GM, et al. Am J Med Genet A. 2009 Aug;149A(8):1698-705. doi: 10.1002/ajmg.a.32968. Am J Med Genet A. 2009. PMID: 19610109 Free PMC article.

7

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM. Taube JR, et al. Among authors: hobson gm. Hum Mol Genet. 2014 Oct 15;23(20):5464-78. doi: 10.1093/hmg/ddu271. Epub 2014 Jun 1. Hum Mol Genet. 2014. PMID: 24890387 Free PMC article.

8

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

Tantzer S, Sperle K, Kenaley K, Taube J, Hobson GM. Tantzer S, et al. Among authors: hobson gm. Mol Ther Nucleic Acids. 2018 Sep 7;12:420-432. doi: 10.1016/j.omtn.2018.05.019. Epub 2018 Jul 5. Mol Ther Nucleic Acids. 2018. PMID: 30195779 Free PMC article.

9

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ. Wolf NI, et al. Among authors: hobson gm. Brain. 2005 Apr;128(Pt 4):743-51. doi: 10.1093/brain/awh409. Epub 2005 Feb 2. Brain. 2005. PMID: 15689360

10

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.

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