Number of items: 57.
Article
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
An intronic mutation in MLH1 associated with familial colon and breast cancer -
F. Bianchi,
M. Raponi,
F. Piva,
A. Viel,
I. Bearzi,
E. Galizia,
R. Bracci,
L. Belvederesi,
C. Loretelli,
C. Brugiati,
F. Corradini,
D. Baralle and
R. Cellerino
Type: Article
| 2011
| Item not available on this server.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome -
Louise S. Bicknell,
Ernie M.H.F. Bongers,
Andrea Leitch,
Stephen Brown,
Jeroen Schoots,
Margaret E. Harley,
Salim Aftimos,
Jumana Y. Al-Aama,
Michael Bober,
Paul A.J. Brown,
Hans van Bokhoven,
John Dean,
Alaa Y. Edrees,
Murray Feingold,
Alan Fryer,
Lies H. Hoefsloot,
Nikolaus Kau,
Nine V.A.M. Knoers,
James MacKenzie,
John M. Opitz,
Pierre Sarda,
Alison Ross,
I. Karen Temple,
Annick Toutain,
Carol A. Wise,
Michael Wright and
Andrew P. Jackson
Type: Article
| 2011
| Item not available on this server.
Autism, language and communication in children with sex chromosome trisomies -
Dorothy V.M. Bishop,
Patricia A. Jacobs,
Katherine Lachlan,
Diana Wellesley,
Angela Barnicoat,
Patricia A. Boyd,
Alan Fryer,
Prisca Middlemiss,
Sarah Smithsom,
Kay Metcalfe,
Deborah Shears,
Victoria Leggett,
Kate Natiion and
Gaia Scerif
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene -
James J. Dowling,
Suzanne Lillis,
Kimberley Amburgey,
Haiyan Zhou,
Safa Al-Sarraj,
Stefan J.A. Buk,
Elizabeth Wraige,
Gabby Chow,
Stephen Abbs,
Steven Leber,
Katherine Lachlan,
Diana Baralle,
Alexandra Taylor,
Caroline Sewry,
Francesco Muntoni and
Heinz Jungbluth
Type: Article
| 2011
| Item not available on this server.
Letter to the Editor. The t(1;9)(p34;q34) fusing ABL1 with SFPQ, a pre-mRNA processing gene, is recurrent in acute lymphoblastic leukemias -
Francois P. Duhoux,
Nathalie Auger,
Sigrid De Wilde,
Sebastian Wittnebel,
Geneviève Ameye,
Khadija Bahloula,
Catherine Van den Berg,
Jeanne-Marie Libouton,
Pascale Saussoy and
Francis H. Grand
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Novel imatinib-sensitive PDGFRA activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease -
Christian Elling,
Phillipp Erben,
Christoph Walz,
Marie Frickenhaus,
Mirle Schemionek,
Martin Stehling,
Hubert Serve,
Nicholas C.P. Cross,
Andreas Hochhaus,
Wolf-Karsten Hofmann,
Wolfgang E. Berdel,
Carsten Muller-Tidow,
Andreas Reiter and
Steffen Koschmieder
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Paper 6: EUROCAT member registries: Organization and activities -
Ruth Greenlees,
Amanda Neville,
Marie-Claude Addor,
Emmanuelle Amar,
Larraitz Arriola,
Marian Bakker,
Ingeborg Barisic,
Patricia A. Boyd,
Elisa Calzolari,
Berenice Doray,
Elizabeth Draper,
Stein Emil Vollset,
Ester Garne,
Miriam Gatt,
Martin Haeusler,
Karin Kallen,
Babak Khoshnood,
Anna Latos-Bielenska,
Maria-Luisa Martinez-Frias,
Anna Materna-Kiryluk,
Carlos Matias Dias,
Bob McDonnell,
Carmel Mullaney,
Vera Nelen,
Mary O'Mahony,
Anna Pierini,
Annette Queisser-Luft,
Hanitra Randrianaivo-Ranjatoélina,
Judith Rankin,
Anke Rissmann,
Annukka Ritvanen,
Joaquin Salvador,
Antonin Sipek,
David Tucker,
Christine Verellen-Dumoulin,
Diana Wellesley and
Wladimir Wertelecki
Type: Article
| 2011
| Item not available on this server.
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation -
Karen Gronskov,
Rebecca L. Poole,
Johanne M.D. Hahnemann,
Jennifer Thomson,
Zeynup Tumer,
Karen Brondum-Nielsen,
Rinki Murphy,
Kirstine Ravn,
Linea Melchior,
Alma Dedic,
Birgitte Dolmer,
I. Karen Temple,
Susanne E. Boonen and
Deborah J.G. Mackay
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
DFNA8/12 caused by TECTA mutations is the most identified subtype of non-syndromic autosomal dominant hearing loss -
Michael S. Hildebrand,
Matías Morín,
Nicole C. Meyer,
Fernando Mayo,
Silvia Modamio-Hoybjor,
Angeles Mencía,
Leticia Olavarrieta,
Carmelo Morales-Angulo,
Carla J. Nishimura,
Heather Workman,
Adam P. DeLuca,
Ignacio del Castillo,
Kyle R. Taylor,
Bruce Tompkins,
Corey W. Goodman,
Isabelle Schrauwen,
Maarten Van Wesemael,
K. Lachlan,
A. Eliot Shearer,
Terry A. Braun,
Patrick L.M. Huygen,
Hannie Kremer,
Guy Van Camp,
Felipe Moreno,
Thomas L. Casavant,
Richard J.H. Smith and
Miguel A. Moreno-Pelayo
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth -
Sally Ann Lynch,
Nicola Foulds,
Ann-Charlotte Thuresson,
Amanda L. Collins,
Göran Annerén,
Bernt-Oves Hedberg,
Carol A. Delaney,
James Iremonger,
Caroline M. Murray,
John A. Crolla,
Colm Costigan,
Wayne Lam,
David R. Fitzpatrick,
Regina Regan,
Sean Ennis and
Freddie Sharkey
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people -
Gareth J. McKay,
Guiliana Silvestri,
Usha Chakravarthy,
Shilpa Dasari,
Lars G. Fritsche,
Bernhard H. Weber,
Claudia N. Keilhauer,
Michael L. Klein,
Peter J. Francis,
Caroline C. Klaver,
Johannes R. Vingerling,
Lintje Ho,
Pauluus T.D.V. De Jong,
Michael Dean,
Julie Sawitzke,
Paul N. Baird,
Robyn H. Guymer,
Dwight Stambolian,
Anton Orlin,
Johanna M. Seddon,
Inga Peter,
Alan F. Wright,
Caroline Hayward,
Andrew J. Lotery,
Sarah Ennis,
Michael B. Gorin,
Daniel E. Weeks,
Chia-Ling Kuo,
Aroon D. Hingorani,
Reecha Sofat,
Valentina Cipriani,
Anand Swaroop,
Mohammed Othman,
Atsuhiro Kanda,
Wei Chen,
Goncalo R. Abecasis,
John R. Yates,
Andrew R. Webster,
Anthony T. Moore,
Johan H. Seland,
Mati Rahu,
Gisele Soubrane,
Laura Tomazzoli,
Fotis Topouzis,
Jesus Vioque,
Ian S. Young,
Aatrid E. Fletcher and
Chris C. Patterson
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis -
S. Soverini,
J. Score,
I. Iacobucci,
A. Poerio,
A. Lonetti,
A. Gnani,
S. Colarossi,
A. Ferrari,
F. Castagnetti,
G. Rosti,
F. Cervantes,
A. Hochhaus,
M. Delledonne,
A. Ferrarini,
M. Sazzini,
D. Luiselli,
M. Baccarani,
N.C.P. Cross and
G. Martinelli
Type: Article
| 2011
| Item not available on this server.
Bcr-Abl kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet -
Simona Soverini,
Andreas Hochhaus,
Franck E. Nicolini,
Franz Gruber,
Thoralf Lange,
Giuseppe Saglio,
Fabrizio Pane,
Martin C. Muller,
Thomas Ernst,
Gianantonio Rosti,
Kimmo Porkka,
Michele Baccarani,
Nicholas C.P. Cross and
Giovanni Martinelli
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Delivering early care in diabetes evaluation (DECIDE): a protocol for a randomised controlled trial to assess hospital versus home management at diagnosis in childhood diabetes -
Julia K. Townson,
John W. Gregory,
David Cohen,
Sue Channon,
Nicola Harman,
Justin H. Davies,
Justin Warner,
Nicola Trevelyan,
Rebecca Playle,
Michael Robling,
Kerenza Hood and
Lesley Lowes
Type: Article
| 2011
| Item not available on this server.
Response of ETV6-FLT3 positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3 -
Christoph Walz,
Philipp Erben,
Michael Ritter,
Adrian Bloor,
Georgia Metzgeroth,
Nick Telford,
Claudia Haferlach,
Torsten Haferlach,
Stefan Gesk,
Joannah Score,
Wolf-Karsten Hofmann,
Andreas Hochhaus,
Nicholas C.P. Cross and
Andreas Reiter
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions -
Marjolein H. Willemsen,
Nicole de Leeuw,
Catherine Mercer,
Helen Eisenhauer,
Joanne Morris,
Morag N. Collinson,
John C.K. Barber,
Stephen T.S. Lam,
Ivan F.M. Lo,
Hanneke Rensen,
Annemarie Ferwerda,
Ben C.J. Hamel and
Tjitske Kleefstra
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item availability restricted.
Book Section
Type: Book Section
| 2011
| Elsevier
| Item not available on this server.
Type: Book Section
| 2011
| Wiley-Blackwell
| Item not available on this server.
This list was generated on Tue Oct 15 02:24:51 2024 BST.