Number of items: 89.
Article
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
The complement component 5 gene and age-related macular degeneration -
Dominique C. Baas,
Lintje Ho,
Sarah Ennis,
Joanna E. Merriam,
Michael W.T. Tanck,
André G. Uitterlinden,
Paulus T.V.M. de Jong,
Angela J. Cree,
Helen L. Griffiths,
Fernando Rivadeneira,
Albert Hofman,
Cornelia van Duijn,
R. Theodore Smith,
Gaetano R. Barile,
Theo G.M.F. Gorgels,
Johannes R. Vingerling,
Caroline C.W. Klaver,
Andrew J. Lotery,
Rando Allikmets and
Arthur A.B. Bergen
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay -
M. Balasubramanian,
J.P. Shield,
C.L. Acerini,
J. Walker,
S. Ellard,
M. Marchand,
M. Polak,
M. Vaxillaire,
J.A. Crolla,
D.J. Bunyan,
D.J. Mackay and
I.K. Temple
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families -
John C.K. Barber,
Dave Bunyan,
Merryl Curtis,
Denise Robinson,
Susanne Morlot,
Anette Dermitzel,
Thomas Liehr,
Claudia Alves,
Joana Trindade,
Ana I. Paramos,
Clare Cooper,
Kevin Ocraft,
Emma-Jane Taylor and
Viv K. Maloney
Type: Article
| 2010
New targets of urocortin mediated cardioprotection -
Sean Pio Barry,
Kevin M. Lawrence,
James McCormick,
Surinder M. Soond,
Mike Hubank,
Simon Eaton,
Ahila Sivarajah,
Tiziano M. Scarabelli,
Richard A. Knight,
Christoph Thiemermann,
David S. Latchman,
Paul A. Townsend and
Anastasis Stephanou
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Screening for diverse PDGFRA or PDGFRB by fusion genes is facilitated by generic quantitative RT-PCR -
Philipp Erben,
Darko Gosenca,
Martin C. Muller,
Jelena Reinhard,
Joannah Score,
Francesco del Valle,
Chistoph Walz,
Jurgen Mix,
Georgia Metzgeroth,
Thomas Ernst,
Claudia Haferlach,
Nicholas C.P. Cross,
Andreas Hochhaus and
Andreas Reiter
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Letter. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders -
Thomas Ernst,
Andrew J. Chase,
Joannah Score,
Claire E. Hidalgo-Curtis,
Catherine Bryant,
Amy V. Jones,
Katherine Waghorn,
Katerina Zoi,
Fiona M. Ross,
Andreas Reiter,
Andreas Hochhaus,
Hans G. Drexler,
Andrew Duncombe,
Francisco Cervantes,
David Oscier,
Jacqueline Boultwood,
Francis H. Grand and
Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
The JAK2 46/1 haplotype predisposes to MPL mutated myeloproliferative neoplasms -
Amy V. Jones,
Peter J. Campbell,
Philip A. Beer,
Sussane Schnittger,
Alessandro M. Vannucchi,
Katerina Zoi,
Melanie J. Percy,
Mary Frances McMullin,
Linda M. Scott,
William Tapper,
Richard T. Silver,
D. Oscier,
Claire N. Harrison,
Harald Grallert,
Aliaksei Kisialiou,
Paul Strike,
Andrew J. Chase,
Anthony R. Green and
Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder -
Wilhelmina G. Leen,
Joerg Klepper,
Marcel M. Verbeek,
Maike Leferink,
Tom Hofste,
Baziel G. van Engelen,
Ron A. Wevers,
Todd Arthur,
Nadia Bahi-Buisson,
Diana Ballhausen,
Jolita Bekhof,
Patrick van Bogaert,
Inês Carrilho,
Brigitte Chabrol,
Michael P. Champion,
James Coldwell,
Peter Clayton,
Elizabeth Donner,
Athanasios Evangeliou,
Friedrich Ebinger,
Kevin Farrell,
Rob J. Forsyth,
Christian G.E.L. de Goede,
Stephanie Gross,
Stephanie Grunewald,
Hans Holthausen,
Sandeep Jayawant,
Katherine Lachlan,
Vincent Laugel,
Kathy Leppig,
Ming J. Lim,
Grazia Mancini,
Adela Della Marina,
Loreto Martorell,
Joe McMenamin,
Marije E.C. Meuwissen,
Helen Mundy,
Nils O. Nilsson,
Axel Panzer,
Bwee T. Poll-The,
Christian Rauscher,
Christophe M.R. Rouselle,
Inger Sandvig,
Thomas Scheffner,
Eamonn Sheridan,
Neil Simpson,
Parol Sykora,
Richard Tomlinson,
John Trounce,
David Webb,
Bernhard Weschke,
Hans Scheffer and
Michél A. Willemsen
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning -
Christopher Mattocks,
Gemma Watkins,
Daniel Ward,
Tom Janssens,
Ermanno A.J. Bosgoed,
Kim van der Donk,
Marjolijn J. Ligtenberg,
Bruno Pot,
Joop Theelen,
Nicholas C.P. Cross,
Hans Scheffer and
Gert Matthijs
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia -
Daniel Moreno-De-Luca,
Jennifer G. Mulle,
Erin B. Kaminsky,
Stephan J. Sanders,
Scott M. Myers,
Margaret P. Adam,
Amy T. Pakula,
Nancy J. Eisenhauer,
Kim Uhas,
LuAnn Weik,
Lisa Guy,
Melanie E. Care,
Chantal F. Morel,
Charlotte Boni,
Bonnie Anne Salbert,
Ashadeep Chandrareddy,
Laurie A. Demmer,
Eva W.C. Chow,
Urvashi Surti,
Swaroop Aradhya,
Diane L. Pickering,
Denae M. Golden,
Warren G. Sanger,
Emily Aston,
Arthur R. Brothman,
Troy J. Gliem,
Erik C. Thorland,
Todd Ackley,
Ram Iyer,
Shuwen Huang,
John C.K. Barber,
John A. Crolla,
Stephen T. Warren,
Christa L. Martin and
David H. Ledbetter
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Genome-wide association study identifies five loci associated with lung function -
E. Repapi,
I. Sayers,
L.V. Wain,
P.R. Burton,
T. Johnson,
M. Obeidat,
J.H. Zhao,
A. Ramasamy,
G. Zhai,
V. Vitart,
J.E. Huffman,
W. Igl,
E. Albrecht,
P. Deloukas,
J. Henderson,
R. Granell,
W.L. McArdle,
A.R. Rudnicka,
I. Barroso,
R.J.F. Loos,
N.J. Wareham,
L. Mustelin,
T. Rantanen,
I. Surakka,
M. Imboden,
H.E. Wichmann,
I. Grkovic,
S. Jankovic,
L. Zgaga,
A.L. Hartikainen,
L. Peltonen,
U. Gyllensten,
A. Johansson,
G. Zaboli,
H. Campbell,
S.H. Wild,
J.F. Wilson,
S. Glaser,
G. Homuth,
H. Volzke,
M. Mangino,
N. Soranzo,
T.D. Spector,
O. Polasek,
I. Rudan,
A.F. Wright,
M. Heliovaara,
C. Cooper,
E. Dennison and
J.W. Holloway
Type: Article
| 2010
| Item not available on this server.
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions -
Jill A. Rosenfeld,
John A. Crolla,
Susan Tomkins,
Patricia Bader,
Bernice Morrow,
Jerome Gorski,
Robin Troxell,
Cynthia Forster-Gibson,
Deirdre Cilliers,
R. Gordon Hislop,
Allen Lamb,
Beth Torchia,
Blake C. Ballif and
Lisa G. Shaffer
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Analysis of genomic breakpoints in p190 and p210 BCR–ABL indicate distinct mechanisms of formation -
J. Score,
M. Calasanz,
O. Ottman,
F. Pane,
R.F. Yeh,
M.A. Sobrinho-Simões,
S. Kreil,
D. Ward,
C. Hidalgo-Curtis,
J.V. Melo,
J. Wiemels,
B. Nadel,
N.C.P. Cross and
F.H. Grand
Type: Article
| 2010
| Item not available on this server.
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 -
Andrew J. Sharp,
Eugenia Migliavacca,
Yann Dupre,
Elisavet Stathaki,
Mohammad Reza Sailani,
Alessandra Baumer,
Albert Schinzel,
Deborah J. Mackay,
David O. Robinson,
Gilda Cobellis,
Luigi Cobellis,
Han G. Brunner,
Bernhard Steiner and
Stylianos E. Antonarakis
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item availability restricted.
Type: Article
| 2010
| Item not available on this server.
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma -
Gudmar Thorleifsson,
G. Bragi Walters,
Alex W. Hewitt,
Gisli Masson,
Agnar Helgason,
Andrew DeWan,
Asgeir Sigurdsson,
Adalbjorg Jonasdottir,
Sigurjon A. Gudjonsson,
Kristinn P Magnusson,
Hreinn Stefansson,
Dennis S. C. Lam,
Pancy O. S. Tam,
Gudrun J. Gudmundsdottir,
Laura Southgate,
Kathryn P. Burdon,
Maria Soffia Gottfredsdottir,
Micheala A Aldred,
Paul Mitchell,
David St Clair,
David A. Collier,
Nelson Tang,
Orn Sveinsson,
Stuart Macgregor,
Nicholas G. Martin,
Angela J Cree,
Jane Gibson,
Alex MacLeod,
Aby Jacob,
Sarah Ennis,
Terri L. Young,
Juliana C. N. Chan,
Wojciech S. S. Karwatowski,
Christopher J. Hammond,
Kristjan Thordarson,
Mingzhi Zhang,
Claes Wadelius,
Andrew J Lotery,
Richard C. Trembath,
Chi Pui Pang,
Josephine Hoh,
Jamie E. Craig,
Augustine Kong,
David A. Mackey,
Fridbert Jonasson,
Unnur Thorsteinsdottir and
Kari Stefansson
Type: Article
| 2010
| Item not available on this server.
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci -
Claire Louise Turner,
Deborah M. Mackay,
Jonathan L.A. Callaway,
Louise E. Docherty,
Rebecca L. Poole,
Hilary Bullman,
Margaret Lever,
Bruce M. Castle,
Emma C. Kivuva,
Peter D. Turnpenny,
Sarju G. Mehta,
Sahar Mansour,
Emma L. Wakeling,
Verghese Mathew,
Jackie Madden,
Justin H. Davies and
I. Karen Temple
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Epigenotype-phenotype correlations in Silver-Russell syndrome -
E.L. Wakeling,
S.A. Amero,
M. Alders,
J. Bliek,
E. Forsythe,
S. Kumar,
D.H. Lim,
F. MacDonald,
D.J. Mackay,
E.R. Maher,
G.E. Moore,
R.L. Poole,
S.M. Price,
T. Tangeraas,
C.L.S. Turner,
M.M. Van Haelst,
C. Willoughby,
I.K. Temple and
J.M. Cobben
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Establishment of the first World Health Organization international genetic reference panel for quantitation of BCR-ABL mRNA -
Helen E. White,
Paul Matejtschuk,
Peter Rigsby,
Jean Gabert,
Feng Lin,
Y. Lynn Wang,
Susan Branford,
Martin C. Muller,
Nathalie Beaufils,
Emmanuel Beillard,
Dolors Colomer,
Dana Dvorakova,
Hans Ehrencrona,
Hyun-Gyung Goh,
Hakim El Housni,
Dan Jones,
Veli Kairisto,
Suzanne Kamel-Reid,
Dong-Wook Kim,
Stephen Langabeer,
Edmund S.K. Ma,
Richard D. Press,
Giuliana Romeo,
Lihui Wang,
Katerina Zoi,
Timothy Hughes,
Giuseppe Saglio,
Andreas Hochhaus,
John M. Goldman,
Paul Metcalfe and
Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register -
B. Wiedemann,
E. Schober,
T. Waldhoer,
J. Koehle,
S.E. Flanagan,
D.J. Mackay,
E. Steichen,
D. Meranzer,
L.B. Zimmerhackl,
A.T. Hattersley,
S. Ellard and
S. Hofer
Type: Article
| 2010
| Item not available on this server.
Thesis
This list was generated on Tue Oct 15 02:24:53 2024 BST.