| Ident. | Authors (with country if any) | Title |
|---|
| 000C73 (2015) |
Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] | Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. |
| 001804 (2014) |
Gabriela E. Jones [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Denise Williams [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Angela F. Brady [Royaume-Uni] ; Isabel Spier [Allemagne] ; Filiz Hazan [Turquie] ; Oana Moldovan [Portugal] ; Dagmar Wieczorek [Allemagne] ; Barbara Mikat [Allemagne] ; Florence Petit [France] ; Christine Coubes [France] ; Robert A. Saul [États-Unis] ; Glen Brice [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Pradeep C. Vasudevan [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] | Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. |
| 001D01 (2013) |
Kristiana Gordon [Royaume-Uni] ; Dörte Schulte ; Glen Brice ; Michael A. Simpson ; M Guy Roukens ; Andreas Van Impel ; Fiona Connell ; Kamini Kalidas ; Steve Jeffery ; Peter S. Mortimer ; Sahar Mansour ; Stefan Schulte-Merker ; Pia Ostergaard | Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. |
| 001F01 (2013) |
Kristiana Gordon [Royaume-Uni] ; Sarah L. Spiden ; Fiona C. Connell ; Glen Brice ; Sally Cottrell ; John Short ; Rohan Taylor ; Steve Jeffery ; Peter S. Mortimer ; Sahar Mansour ; Pia Ostergaard | FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. |
| 002108 (2012) |
Filiz Hazan [Turquie] ; Pia Ostergaard ; Taylan Ozturk ; Esin Kantekin ; Fusun Atlihan ; Steve Jeffery ; Ferda Ozkinay | A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. |
| 002293 (2012) |
Pia Ostergaard [Royaume-Uni] ; 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 | Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. |
| 002471 (2011) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Fiona C. Connell ; Colin G. Steward ; Glen Brice ; Wesley J. Woollard ; Dimitra Dafou ; Tatjana Kilo ; Sarah Smithson ; Peter Lunt ; Victoria A. Murday ; Shirley Hodgson ; Russell Keenan ; Daniela T. Pilz ; Ines Martinez-Corral ; Taija Makinen ; Peter S. Mortimer ; Steve Jeffery ; Richard C. Trembath ; Sahar Mansour | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). |
| 002624 (2011) |
P. Ostergaard [Royaume-Uni] ; M A Simpson ; Steve Jeffery | Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit. |
| 002680 (2011) |
Russell H. Mellor [Royaume-Uni] ; Naomi Tate ; Anthony W B. Stanton ; Charlotte Hubert ; Taija M Kinen ; Alberto Smith ; Kevin G. Burnand ; Steve Jeffery ; J Rodney Levick ; Peter S. Mortimer | Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency. |
| 002763 (2011) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Glen Brice ; Sahar Mansour ; Fiona C. Connell ; Alexandros Onoufriadis ; Anne H. Child ; Jae Hwang ; Kamini Kalidas ; Peter S. Mortimer ; Richard Trembath ; Steve Jeffery | Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. |
| 002948 (2010) |
Sahar Mansour [Royaume-Uni] ; Fiona Connell ; Colin Steward ; Pia Ostergaard ; Glen Brice ; Sarah Smithson ; Peter Lunt ; Steve Jeffery ; Inderjeet Dokal ; Tom Vulliamy ; Brenda Gibson ; Shirley Hodgson ; Sally Cottrell ; Louise Kiely ; Lorna Tinworth ; Kamini Kalidas ; Ghulam Mufti ; Jackie Cornish ; Russell Keenan ; Peter Mortimer ; Victoria Murday | Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. |
| 002A43 (2010) |
Russell H. Mellor [Royaume-Uni] ; Charlotte E. Hubert ; Anthony W B. Stanton ; Naomi Tate ; Victoria Akhras ; Alberto Smith ; Kevin G. Burnand ; Steve Jeffery ; Taija M Kinen ; J Rodney Levick ; Peter S. Mortimer | Lymphatic dysfunction, not aplasia, underlies Milroy disease. |
| 002A65 (????) |
Glen Brice ; Fiona Connell ; Sahar Mansour ; Steve Jeffery ; Peter Mortimer | Re: "conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs". |
| 002B18 (2010) |
Anne H. Child [Royaume-Uni] ; Kristiana D. Gordon ; Pip Sharpe ; Glen Brice ; Pia Ostergaard ; Steve Jeffery ; Peter S. Mortimer | Lipedema: an inherited condition. |
| 002C82 (2010) |
Fiona Connell [Royaume-Uni] ; Kamini Kalidas ; Pia Ostergaard ; Glen Brice ; Tessa Homfray ; Lesley Roberts ; David J. Bunyan ; Sally Mitton ; Sahar Mansour ; Peter Mortimer ; Steve Jeffery | Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. |
| 003090 (2009) |
F C Connell [Royaume-Uni] ; P. Ostergaard ; C. Carver ; G. Brice ; N. Williams ; S. Mansour ; P S Mortimer ; Steve Jeffery | Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. |
| 003415 (2008) |
Tayebeh Rezaie [États-Unis] ; Rose Ghoroghchian ; Rachel Bell ; Glen Brice ; Ali Hasan ; Kevin Burnand ; Steve Vernon ; Sahar Mansour ; Peter Mortimer ; Steve Jeffery ; Anne Child ; Mansoor Sarfarazi | Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. |
| 003715 (2007) |
Russell H. Mellor [Royaume-Uni] ; Glen Brice ; Anthony W B. Stanton ; Jane French ; Alberto Smith ; Steve Jeffery ; J Rodney Levick ; Kevin G. Burnand ; Peter S. Mortimer | Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. |
| 003C83 (2005) |
Carolyn Sholto-Douglas-Vernon [Royaume-Uni] ; Rachel Bell ; Glen Brice ; Sahar Mansour ; Mansoor Sarfarazi ; Anne H. Child ; Alberto Smith ; Russell Mellor ; Kevin Burnand ; Peter Mortimer ; Steve Jeffery | Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. |
