PMC Links for Books (Select 1482570) - PMC

Select item 82626401.

The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases

Richard M Monaghan, Donna J Page, Pia Ostergaard, Bernard D Keavney

Cardiovasc Res. 2021 Jul 1; 117(8): 1877–1890. Published online 2020 Oct 17. doi: 10.1093/cvr/cvaa291

PMCID:: PMC8262640

Select item 75257762.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

J Med Genet. 2020 Oct; 57(10): 653–659. Published online 2020 May 14. doi: 10.1136/jmedgenet-2019-106084

PMCID:: PMC7525776

Abstract Article PDF–1.1M

Select item 61213313.

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon

Noeline Nadarajah, Dörte Schulte, Vivienne McConnell, Silvia Martin-Almedina, Christina Karapouliou, Peter S. Mortimer, Steve Jeffery, Stefan Schulte-Merker, Kristiana Gordon, Sahar Mansour, Pia Ostergaard

Int J Mol Sci. 2018 Aug; 19(8): 2259. Published online 2018 Aug 1. doi: 10.3390/ijms19082259

PMCID:: PMC6121331

Abstract Article PDF–2.4M

Select item 54293604.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 49842685.

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression

Carolyn C. Jackson, Lucy Best, Lazaro Lorenzo, Jean-Laurent Casanova, Jochen Wacker, Simone Bertz, Abbas Agaimy, Thomas Harrer

J Clin Immunol. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Clin Immunol. 2016 Jan; 36(1): 19–27. Published online 2015 Dec 19. doi: 10.1007/s10875-015-0225-6

PMCID:: PMC4984268

Abstract Article PDF–2.5M

Select item 47319256.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 39383988.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela E Jones, Pia Ostergaard, Anthony T Moore, Fiona C Connell, Denise Williams, Oliver Quarrell, Angela F Brady, Isabel Spier, Filiz Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter S Mortimer, Pradeep C Vasudevan, Sahar Mansour

Eur J Hum Genet. 2014 Jul; 22(7): 881–887. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.263

PMCID:: PMC3938398

Abstract Article PDF–976K

Select item 36389339.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

M. Alders, A. Mendola, L. Adès, L. Al Gazali, C. Bellini, B. Dallapiccola, P. Edery, U. Frank, F. Hornshuh, S.A. Huisman, S. Jagadeesh, H. Kayserili, W.T. Keng, D. Lev, C.E. Prada, J.R. Sampson, J. Schmidtke, V. Shashi, Y. van Bever, N. Van der Aa, J.M. Verhagen, J.B. Verheij, M. Vikkula, R.C. Hennekam

Mol Syndromol. 2013 Mar; 4(3): 107–113. Published online 2012 Oct 2. doi: 10.1159/000342486

PMCID:: PMC3638933

Abstract Article PDF–268K

Select item 327666010.

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery

Am J Hum Genet. 2012 Feb 10; 90(2): 356–362. doi: 10.1016/j.ajhg.2011.12.018

PMCID:: PMC3276660

Abstract Article PDF–362K

Select item 173598411.

Milroy disease and the VEGFR-3 mutation phenotype

G Brice, A Child, A Evans, R Bell, S Mansour, K Burnand, M Sarfarazi, S Jeffery, P Mortimer

J Med Genet. 2005 Feb; 42(2): 98–102. doi: 10.1136/jmg.2004.024802

PMCID:: PMC1735984

Summary PDF–156K

Select item 173558712.

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

A Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, A Child

J Med Genet. 2003 Sep; 40(9): 697–703. doi: 10.1136/jmg.40.9.697

PMCID:: PMC1735587

Summary PDF–907K

Select item 128717813.

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

Alexandre Irrthum, Marika J. Karkkainen, Koen Devriendt, Kari Alitalo, Miikka Vikkula

Am J Hum Genet. 2000 Aug; 67(2): 295–301. Published online 2000 Jun 9. doi: 10.1086/303019

PMCID:: PMC1287178

Abstract Article PDF–1.0M

Select item 6011314.

A model for gene therapy of human hereditary lymphedema

Marika J. Karkkainen, Anne Saaristo, Lotta Jussila, Kaisa A. Karila, Elizabeth C. Lawrence, Katri Pajusola, Hansruedi Bueler, Anne Eichmann, Risto Kauppinen, Mikko I. Kettunen, Seppo Ylä-Herttuala, David N. Finegold, Robert E. Ferrell, Kari Alitalo

Proc Natl Acad Sci U S A. 2001 Oct 23; 98(22): 12677–12682. Published online 2001 Oct 9. doi: 10.1073/pnas.221449198

PMCID:: PMC60113

Abstract Article PDF–660K

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