M
Michael Partington
Researcher at University of Newcastle
Publications - 46
Citations - 3769
Michael Partington is an academic researcher from University of Newcastle. The author has contributed to research in topics: Fragile X syndrome & Mutation (genetic algorithm). The author has an hindex of 25, co-authored 46 publications receiving 3590 citations. Previous affiliations of Michael Partington include Catholic University of the Sacred Heart.
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
PAK3 mutation in nonsyndromic X-linked mental retardation
Kristina M. Allen,Joseph G. Gleeson,Joseph G. Gleeson,Shubha Bagrodia,Michael Partington,John MacMillan,Richard A. Cerione,John C. Mulley,Christopher A. Walsh +8 more
TL;DR: Impaired individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase, which is critical for human cognitive function.
Journal ArticleDOI
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Petter Strømme,Marie Mangelsdorf,Marie Mangelsdorf,Marie A. Shaw,Karen M. Lower,Karen M. Lower,Suzanne M E Lewis,Helene Bruyere,Viggo Lütcherath,Agi K. Gedeon,Agi K. Gedeon,Robyn H. Wallace,Ingrid E. Scheffer,Gillian Turner,Michael Partington,Suzanna G M Frints,Jean Pierre Fryns,Grant R. Sutherland,Grant R. Sutherland,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +22 more
TL;DR: This work has identified mutations in an X chromosome–linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation, various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.
Journal ArticleDOI
Fragile X syndrome without CCG amplification has an FMR1 deletion.
Agi K. Gedeon,Elizabeth Baker,Hazel Robinson,Michael Partington,Gross B,Antonella Manca,Bobby S. Korn,Annemarie Poustka,S. Yu,Grant R. Sutherland +9 more
TL;DR: The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences, confirming that the fragile X phenotype can exist, without amplification of theCCG repeat or cytogenetic expression of the fragileX.
Journal ArticleDOI
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Patrick S. Tarpey,F. Lucy Raymond,Sarah O’Meara,Sarah Edkins,Jon W. Teague,Adam Butler,Ed Dicks,Claire Stevens,Calli Tofts,Tim Avis,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Andrew M. Jenkinson,David T. Jones,Andrew Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,David S. Richardson,Rebecca Shepherd,Alexandra Small,Jennifer Varian,Sofie West,Sara Widaa,Uma Mallya,Jenny Moon,Ying Luo,Susan E. Holder,Sarah F. Smithson,Jane A. Hurst,Jill Clayton-Smith,Bronwyn Kerr,Jackie Boyle,Marie Shaw,Lucianne Vandeleur,Jayson Rodriguez,Rachel Slaugh,Douglas F. Easton,Richard Wooster,Martin Bobrow,Anand Srivastava,Roger E. Stevenson,Charles E. Schwartz,Gillian Turner,Jozef Gecz,Jozef Gecz,P. Andrew Futreal,Michael R. Stratton,Michael Partington +53 more
TL;DR: The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.