Number of items: 106.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population -
Khalid K. Alharbi,
Mohammed A. Aldahmesh,
Emmanuel Spanakis,
Lema Haddad,
Roslyn A. Whittall,
Xiao-he Chen,
Hamid Rassoulian,
Matt J. Smith,
Julie Sillibourne,
Nicola J. Ball,
Nikki J. Graham,
Patricia J. Briggs,
Iain A. Simpson,
David I.W. Phillips,
Deborah A. Lawlor,
Shu Ye,
Stephen E. Humphries,
Cyrus Cooper,
George Davey Smith,
Shah Ebrahim,
Diana M. Eccles and
Ian N.M. Day
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item availability restricted.
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size -
Jacquelyn Bond,
Emma Roberts,
Kelly Springell,
Sophia Lizarraga,
Sheila Scott,
Julie Higgins,
Daniel J. Hampshire,
Ewan E. Morrison,
G briella F. Leal,
Elias O. Silva,
Suzana M.R. Costa,
Diana Baralle,
Michela Raponi,
Gulshan Karbani,
Yasmin Rashid,
Hussain Jafri,
Christopher Bennett,
Peter Corry,
Christopher A. Walsh and
C. Geoffrey Woods
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect -
P. Brouillard,
M. Ghassibé,
A. Penington,
L.M. Boon,
A. Dompmartin,
I.K. Temple,
M. Cordisco,
D. Adams,
F. Piette,
J.I. Harper,
S. Syed,
F. Boralevi,
A. Taïeb,
S. Danda,
E. Baselga,
O. Enjolras,
J.B. Mulliken and
M. Vikkula
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern -
Francisco M. De La Vega,
Hadar Isaac,
Andrew Collins,
Charles R. Scafe,
Bjarni V. Halldórsson,
Xiaoping Su,
Ross A. Lippert,
Yu Wang,
Marion Laig-Webster,
Ryan T. Koehler,
Janet S. Ziegle,
Lewis T. Wogan,
Junko F. Stevens,
Kyle M. Leinen,
Sheri J. Olson,
Karl J. Guegler,
Xiaoqing You,
Lily H. Xu,
Heinz G. Hemken,
Francis Kalush,
Mitsuo Itakura,
Yi Zheng,
Guy de Thé,
Stephen J. O'Brien,
Andrew G. Clark,
Sorin Istrail,
Michael W. Hunkapiller,
Eugene G. Spier and
Dennis A. Gilbert
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Relapsing diabetes can result from moderately activating mutations in KCNJ11 -
Anna L. Gloyn,
Frank Reimann,
Christophe Girard,
Emma L. Edghill,
Peter Proks,
Ewan R. Pearson,
I. Karen Temple,
Deborah J.G. Mackay,
Julian P.H. Shield,
Debra Freedenberg,
Kathryn Noyes,
Sian Ellard,
Frances M. Ashcroft,
Fiona M. Gribble and
Andrew T. Hattersley
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes -
S.M. Gribble,
E. Prigmore,
D.C. Burford,
K.M. Porter,
Bee Ling Ng,
E.J. Douglas,
H. Fiegler,
P. Carr,
D. Kalaitzopoulos,
S. Clegg,
R. Sandstrom,
I.K. Temple,
S.A. Youings,
N.S. Thomas,
N.R. Dennis,
P.A. Jacobs,
J.A. Crolla and
N.P. Carter
Type: Article
| 2005
| Item not available on this server.
Phenotypic characterization of CD3-7+ cells in developing human intestine and an analysis of their ability to differentiate into T cells -
Ute Gunther,
Judith A. Holloway,
John G. Gordon,
Andrea Knight,
Victoria Chance,
Neil A. Hanley,
David I. Wilson,
Ruth French,
Jo Spencer,
Howard Steer,
Graham Anderson and
Thomas T. MacDonald
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variation -
C. Holmes,
C. Ballard,
D. Lehmann,
A. David Smith,
H. Beaumont,
I.N. Day,
M. Nadeem Khan,
S. Lovestone,
M. McCulley,
C.M. Morris,
D.G. Munoz,
K. O'Brien,
C. Russ,
T. Del Ser and
D. Warden
Type: Article
| 2005
| Item not available on this server.
Type: Review
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents -
Shuwen Huang,
Derek G. Cook,
Lesley J. Hinks,
Xiao-he Chen,
Shu Ye,
Julie A. Gilg,
Martin J. Jarvis,
Peter H. Whincup and
Ian N.M. Day
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders -
Amy V. Jones,
Sebastian Kreil,
Katerina Zoi,
Katherine Waghorn,
Claire Curtis,
Lingyan Zhang,
Joannah Score,
Rachel Seear,
Andrew J. Chase,
Francis H. Grand,
Helen White,
Christine Zoi,
Dimitris Loukopoulos,
Evangelos Terpos,
Elisavet-Christine Vervessou,
Beate Schultheis,
Michael Emig,
Thomas Ernst,
Eva Lengfelder,
Rüdiger Hehlmann,
Andreas Hochhaus,
David Oscier,
Richard T. Silver,
Andreas Reiter and
Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Oral sessions. Sensitive detection of FIP1L1-PDGFRA fusion transcripts by real-time quantitative RT-PCR (RQ-PCR) reveals achievement of molecular remission in chronic eosinophilic leukemia treated with low-dose imatinib therapy -
J. Jovanovic,
A. Reiter,
D. Cilloni,
E. Gottardi,
J. Score,
H. Popp,
G. Metzgeroth,
C. Walz,
A. Hochhaus,
C. Roche,
C. Preudhomme,
M. Rondoni,
E. Ottaviani,
F. Rancati,
E. Solomon,
J. Apperley,
G. Martinelli,
G. Saglio,
R. Hehlmann,
N.C.P. Cross and
D. Grimwade
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease -
Rong Li,
Anne B. Johnson,
Gajja Salomons,
James E. Goldman,
Sakkubai Naidu,
Roy Quinlan,
Bruce Cree,
Stephanie Z. Ruyle,
Brenda Banwell,
Marc D'Hooghe,
Joseph R. Siebert,
Cristin M. Rolf,
Helen Cox,
Alyssa Reddy,
Luis Gonzalez Gutierrez-Solana,
Amanda Collins,
Roy O. Weller,
Albee Messing,
Marjo S. van der Knaap and
Michael Brenner
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
DNA topoisomerase II in therapy-related acute promyelocytic leukemia -
Anita R. Mistry,
Carolyn A. Felix,
Ryan J. Whitmarsh,
Annabel Mason,
Andreas Reiter,
Bruno Cassinat,
Anne Parry,
Christoph Walz,
Joseph L. Wiemels,
Mark R. Segal,
Lionel Adès,
Ian A. Blair,
Neil Osheroff,
Andrew J. Peniket,
Marina Lafage-Pochitaloff,
Nicholas C.P. Cross,
Christine Chomienne,
Ellen Solomon,
Pierre Fenaux and
David Grimwade
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2 -
Andreas Reiter,
Christoph Walz,
Ann Watmore,
Claudia Schoch,
Ilona Blau,
Brigitte Schlegelberger,
Ute Berger,
Nick Telford,
Shilani Aruliah,
John A. Yin,
Danny Vanstraelen,
Helen F. Barker,
Peter C. Taylor,
Aisling O'Driscoll,
Fabio Benedetti,
Cornelia Rudolph,
Hans-Jochem Kolb,
Andreas Hochhaus,
Rüdiger Hehlmann,
Andrew Chase and
Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Age has a profound effect on the incidence and significance of chromosome abnormalities in myeloma -
F.M. Ross,
A.H. Ibrahim,
A. Vilain-Holmes,
M.O. Winfield,
L. Chiecchio,
R.K. Protheroe,
P. Strike,
J.L. Gunasekera,
A. Jones,
C.J. Harrison,
G.J. Morgan and
N.C. Cross
Type: Article
| 2005
| Item not available on this server.
Type: Book Section
| 2005
| Humana Press
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Polymorphisms in a disintegrin and metalloprotease 33 (ADAM33) predict impaired early-life lung function -
Angela Simpson,
Nikolas Maniatis,
Francine Jury,
Julie A. Cakebread,
Lesley A. Lowe,
Stephen T. Holgate,
Ashley Woodcock,
William E. R. Ollier,
Andrew Collins,
Adnan Custovic,
John W. Holloway and
Sally L. John
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome -
K. Tatton-Brown,
J. Douglas,
K. Coleman,
G.K. Baujat,
A. Clarke,
A. Collins,
S. Davies,
F. Faravelli,
H. Firth,
C. Garrett,
H. Hughes,
B. Kerr,
J. Liebelt,
W. Reardon,
G.B. Schaefer,
M. Splitt,
I.K. Temple,
D. Waggoner,
D.D. Weaver,
L. Wilson,
T. Cole,
V. Cormier-Daire,
A. Irrthum and
N. Rahman
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Transient response to imatinib in an atypical chronic myeloproliferative disease associated with ins(9;4)(q34;q21q31) and a CDK5RAP2-PDGFRA fusion gene -
Christoph Walz,
Beate Schultheis,
Georgia Metzgeroth,
Claudia Schoch,
Claire Curtis,
Eva Lengfelder,
Torsten Haferlach,
Ute Berger,
Andreas Hochhaus,
Rüdiger Hehlmann,
Nicholas C.P. Cross and
Andreas Reiter
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome -
Lionel Willatt,
James Cox,
John Barber,
Elisabet Dachs Cabanas,
Amanda Collins,
Dian Donnai,
David R. FitzPatrick,
Eddy Maher,
Howard Martin,
Josep Parnau,
Lesley Pindar,
Jacqueline Ramsay,
Charles Shaw-Smith,
Erik A. Sistermans,
Michael Tettenborn,
Dorothy Trump,
Bert B.A. de Vries,
Kate Walker and
F. Lucy Raymond
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
This list was generated on Tue Oct 15 02:24:46 2024 BST.