Number of items: 86.
Article
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline -
Sheila J. Barton,
Gerard H. Koppelman,
Judith M. Vonk,
Claudia A. Browning,
Ilja M. Nolte,
Ceri E. Stewart,
Sue Bainbridge,
Stacey Mutch,
Matthew J. Rose-Zerilli,
Dirkje S. Postma,
Nikolas Maniatis,
Amanda P. Henry,
Ian P. Hall,
Stephen T. Holgate,
Patrick Tighe,
John W. Holloway and
Ian Sayers
Type: Article
| 2009
| Item not available on this server.
Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones -
Phillip A. Beer,
Amy V. Jones,
Anthony J. Bench,
Andrea Goday-Fernandez,
ElaineM. Boyd,
Krishna J. Vaghela,
Wendy N. Erber,
Bassam Odeh,
Christine Wright,
Mary Frances McMullin,
Jonathan Cullis,
Brian J.P. Huntly,
Claire N. Harrison,
Nicholas C.P. Cross and
Anthony R. Green
Type: Article
| 2009
| Item not available on this server.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence -
Sabina Benko,
Judy A. Fantes,
Judy A. Amiel,
Dirk-Jan Kleinjan,
Sophie Thomas,
Jacqueline Ramsay,
Negar Jamshidi,
Abdelkader Essafi,
Simon Heaney,
Christopher T. Gordon,
David McBride,
Christelle Golzio,
Malcolm Fisher,
Paul Perry,
Véronique Abadie,
Carmen Ayuso,
Muriel Holder-Espinasse,
Nicky Kilpatrick,
Melissa M. Lees,
Arnaud Picard,
I. Karen Temple,
Paul Thomas,
Marie-Paule Vazquez,
Michel Vekemans,
Hugues Roest Crollius,
Nicholas D. Hastie,
Arnold Munnich,
Heather C Etchevers,
Anna Pelet,
Peter G. Farlie,
David R. FitzPatrick and
Stanislas Lyonnet
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells -
Jet Bliek,
Marielle Alders,
Saskia M. Maas,
Roelof-Jan Oostra,
Deborah M. Mackay,
Karin van der Lip,
Johnatan L. Callaway,
Alice Brooks,
Sandra van 't Padje,
Andries Westerveld,
Nico J. Leschot and
Marcel M.A.M. Mannens
Type: Article
| 2009
| Item not available on this server.
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome -
Jet Bliek,
Gaetano Verde,
Jonathan Callaway,
Saskia M. Maas,
Agostina De Crescenzo,
Angela Sparago,
Flavia Cerrato,
Silvia Russo,
Serena Ferraiuolo,
Maria Michela Rinaldi,
Rita Fischetto,
Faustina Lalatta,
Lucio Giordano,
Paolo Ferrari,
Mara Vittoria Cubellis,
Lidia Larizza,
I. Karen Temple,
Marcel M.A.M. Mannens,
Deborah J.G. Mackay and
Andrea Riccio
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Frequent upregulation of MYC in plasma cell leukemia -
Laura Chiecchio,
Gian Paolo Dagrada,
Helen E. White,
Mark R. Townsend,
Rebecca K.M. Protheroe,
Kan Luk Cheung,
David M. Stockley,
Kim H. Orchard,
Nicholas C.P. Cross,
Christine J. Harrison and
Fiona M. Ross
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features -
N.C.P. Cross,
G.Q. Daley,
A.R. Green,
T.P. Hughes,
C. Jamieson,
P. Manley,
T. Mughal,
D. Perrotti,
J. Radich,
R. Skoda,
S. Soverini,
W. Vainchenker,
S. Verstovsek,
J.-L. Villeval and
J.M. Goldman
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage -
Issa J. Dahabreh,
Amy V. Jones,
Michael Voulgarelis,
Stavroula Giannouli,
Christine Zoi,
Christina Alafakis-Tzannatos,
Marighoula Varla-Leftherioti,
Haralampous Moutsopoulos,
Dimitris Loukopoulos,
Stelios Fotiou,
Nicholas C.P. Cross and
Katerina Zoi
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? -
H. Dolk,
J. Jentink,
M. Loane,
J. Morris,
L.T. de Jong-van den Berg,
E. Calzolari,
I. Barisic,
D. Wellesley,
E. Garne,
C. De Vigan,
H. de Walle,
M. Bakker,
M. Gatt,
K.K. Melve,
M. O'Mahony,
V. Nelen,
Y. Gillerot,
F. Rivieri,
A. Pierini,
A. Queisser-Luft,
S. Poetzsch,
D. Tucker,
I. Portillo,
A. Latos-Bielenska,
J. Mejnartowicz,
B. Doray and
M.C. Addor
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators -
Gaia Gestri,
Robert J. Osborne,
Alexander W. Wyatt,
Dianne Gerrelli,
Susan Gribble,
Helen Stewart,
Alan Fryer,
David J. Bunyan,
Katrina Prescott,
J. Richard O. Collin,
Tomas Fitzgerald,
David Robinson,
Nigel P. Carter,
Stephen W. Wilson and
Nicola K. Ragge
Type: Article
| 2009
| Item not available on this server.
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis -
Rodney D. Gilbert,
Claire L.S. Turner,
Jane Gibson,
Paul S. Bass,
Mushfequr R. Haq,
Esta Cross,
David J. Bunyan,
Andrew R. Collins,
William J. Tapper,
Juliet C. Needell,
Beverley Dell,
Newton E. Morton,
I. Karen Temple and
David O. Robinson
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties -
Mary Glancy,
Angela Barnicoat,
Rajan Vijeratnam,
Sharon de Souza,
Joanne Gilmore,
Shuwen Huang,
Viv K. Maloney,
N. Simon Thomas,
David J. Bunyan,
A. Jackson and
John C.K. Barber
Type: Article
| 2009
| Item not available on this server.
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms -
Francis H. Grand,
Claire E. Hidalgo-Curtis,
Thomas Ernst,
Katerina Zoi,
Chistine Zoi,
Carolann McGuire,
Sebastian Kreil,
Amy Jones,
Joannah Score,
Georgia Metzgeroth,
David Oscier,
Andrew Hall,
Christian Brandts,
Hubert Serve,
Andrew Reiter,
Andrew J. Chase and
Nicholas C.P. Cross
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms -
Amy V. Jones,
Andrew Chase,
Richard T. Silver,
David Oscier,
Katerina Zoi,
Y. Lynn Wang,
Holger Cario,
Heike L. Pahl,
Andrew Collins,
Andreas Reiter,
Francis Grand and
Nicholas C.P. Cross
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype -
T. Kleefstra,
W.A. van Zelst-Stams,
W.M. Nillesen,
V. Cormier-Daire,
G. Houge,
N. Foulds,
M. van Dooren,
M.H. Willemsen,
R. Pfundt,
A. Turner,
M. Wilson,
J. McGaughran,
A. Rauch,
M. Zenker,
M.P. Adam,
M. Innes,
C. Davies,
A. Gonzalez-Meneses Lopez,
R. Casalone,
A. Weber,
L.A. Brueton,
A. Delicado Navarro,
M. Palomares Bralo,
H. Venselaar,
S.P.A. Stegmann,
H.G. Yntema,
H. van Bokhoven and
H.G. Brunner
Type: Article
| 2009
| Item not available on this server.
Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness -
Gerard H. Koppelman,
Deborah A. Meyers,
Timothy D. Howard,
S. Lilly Zheng,
Greg A. Hawkins,
Elizabeth J. Ampleford,
Jianfeng Xu,
Henk Koning,
Marcel Bruinenberg,
Ilja M. Nolte,
Cleo C. van Diemen,
H. Marike Boezen,
Wim Timens,
Paul A. Whittaker,
O. Colin Stine,
Sheila J. Barton,
John W. Holloway,
Stephen T. Holgate,
Penelope E. Graves,
Fernando D. Martinez,
Antoon J. van Oosterhout,
Eugene R. Bleecker and
Dirkje S. Postma
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Mechanisms of action and clinical implications of cardiac urocortin: A journey from the heart to the systemic circulation, with a stopover in the mitochondria -
Erlene Kuizon,
Eve G. Pearce,
Sarah G. Bailey,
Carol Chen-Scarabelli,
Zhaokan Yuan,
Kadija Abounit,
Roy B. McCauley,
Louis Saravolatz,
Giuseppe Faggian,
Alessandro Mazzucco,
Paul A. Townsend and
Tiziano M. Scarabelli
Type: Article
| 2009
| Item not available on this server.
Large-scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing -
R.W. Labrum,
S. Rajakulendran,
T.D. Graves,
L.H. Eunson,
R. Bevan,
M.G. Sweeney,
S.R. Hammans,
N. Tubridy,
T. Britton,
L.J. Carr,
J.R. Ostergaard,
C.R. Kennedy,
A. Al-Memar,
D.M. Kullmann,
S. Schorge,
I.K. Temple,
M.B. Davis and
M.G. Hanna
Type: Article
| 2009
| Item not available on this server.
Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution -
C.M. Lindgren,
I.M. Heid,
J.C. Randall,
C. Lamina,
V. Steinthorsdottir,
L. Qi,
E.K. Speliotes,
G. Thorleifsson,
C.J. Willer,
B.M. Herrera,
A.U. Jackson,
N. Lim,
P. Scheet,
N. Soranzo,
N. Amin,
Y.S. Aulchenko,
J.C. Chambers,
A. Drong,
J. Luan,
H.N. Lyon,
F. Rivadeneira,
S. Sanna,
N.J. Timpson,
M.C. Zillikens,
J.H. Zhao,
P. Almgren,
S. Bandinelli,
A.J. Bennett,
R.N. Bergman,
L.L. Bonnycastle,
S.J. Bumpstead,
S.J. Chanock,
L. Cherkas,
P. Chines,
L. Coin,
C. Cooper,
G. Crawford,
A. Doering,
A. Dominiczak,
A.S. Doney,
S. Ebrahim,
P. Elliott,
M.R. Erdos,
K. Estrada,
L. Ferrucci,
G. Fischer,
N.G. Forouhi,
C. Gieger,
H. Grallert and
J.W. Holloway
Type: Article
| 2009
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders -
H.M. Ozgen,
E. van Daalen,
P.F. Bolton,
V.K. Maloney,
S. Huang,
L. Cresswell,
M.J. van den Boogaard,
M.J. Eleveld,
R. van 't Slot,
R. Hochstenbach,
F.A. Beemer,
M. Barrow,
J.C.K. Barber and
M. Poot
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia -
Kajsa Paulsson,
Qian An,
Anthony V. Moorman,
Helen Parker,
Gael Molloy,
Teresa Davies,
Mike Griffiths,
Fiona M. Ross,
Julie Irving,
Christine J. Harrison,
Bryan D. Young and
Jon C. Strefford
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q -
Katrina Tatton-Brown,
Daniela T. Pilz,
Karen Helen Örstavik,
Michael Patton,
John C.K. Barber,
Morag N. Collinson,
Vivienne K. Maloney,
Shuwen Huang,
John A. Crolla,
Karen Marks,
Eli Ormerod,
Peter Thompson,
Zafar Nawaz,
Chistsa Lese-Martin,
Susan Tomkins,
Paula Waits,
Nazneen Rahman and
Meriel McEntagart
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation -
N. Henriette Uhlenhaut,
Susanne Jacob,
Katrin Anlag,
Tobias Eisenberger,
Ryohei Sekido,
Jana Kress,
Anna-Corina Treier,
Claudia Klugmann,
Christian Klasen,
Nadine I. Holter,
Dieter Riethmacher,
Günther Schütz,
Austin J. Cooney,
Robin Lovell-Badge and
Mathias Treier
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
The molecular anatomy of the FIP1L1-PDGFRA fusion gene -
C. Walz,
J. Score,
J. Mix,
D. Cilloni,
C. Roche-Lestienne,
R.F. Yeh,
J.L. Wiemels,
E. Ottaviani,
P. Erben,
A. Hochhaus,
M. Baccarani,
D. Grimwade,
C. Preudhomme,
J. Apperley,
G. Martinelli,
G. Saglio,
N.C. Cross and
A. Reiter
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome -
B.W. van Bon,
H.C. Mefford,
B. Menten,
A.J. Sharp,
W.M. Nillesen,
J.W. Innis,
T.J. de Ravel,
C.L. Mercer,
M. Fichera,
H. Steward,
L.E. Connell,
K. Ounap,
K. Lachlan,
B. Castle,
N. Van der An,
C. van Ravenswaaij,
M.A. Nobrego,
C. Serra-Juhe,
I. Simonic,
N. de Leeuw,
R. Pfundt,
E.M. Bongers,
C. Baker,
P. Finnemore,
S. Huang,
V.K. Maloney,
J.A. Crolla,
M. van Kalmthout,
M. Elia,
G. Vandeweyer,
J.P. Fryns,
S. Janssens,
N. Foulds,
S. Reitano,
K. Smith,
S. Parkel,
B. Loeys,
C.G. Woods,
A. Oostra,
F. Speleman,
A.C. Pereira,
A. Jurg,
L. Willatt,
S.J. Knight,
J.R. Vermeesch,
C. Romano,
J.C. Barber,
G. Mortier,
L.A. Perez-Jurado,
F. Kooy,
H.G. Brunner,
E.E. Eichler,
T. Kleefstra and
B.B. de Vries
Type: Article
| 2009
| Item not available on this server.
Book Section
Type: Book Section
| 2009
| Springer
| Item not available on this server.
Thesis
This list was generated on Tue Sep 24 02:22:04 2024 BST.