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1.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.

Mansour, Sahar; Josephs, Katherine S; Ostergaard, Pia; Gordon, Kristiana; Van Zanten, Malou; Pearce, Julian; Jeffery, Steve; Keeley, Vaughan; Riches, Katie; Kreuter, Alexander; Wieland, Ulrike; Hägerling, René; Ratnam, Lakshmi; Sackey, Ege; Grigoriadis, Dionysios; Ho, Bernard; Smith, Frances; Rauter, Elisabeth; Mortimer, Peter; Macallan, Derek.

J Med Genet; 60(1): 84-90, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-34916230

2.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege; Grigoriadis, Dionysios; Karapouliou, Christina; Nadarajah, Noeline; Ebbing, Cathrine; Lord, Jenny; Mellis, Rhiannon; Kortuem, Fanny; Dinulos, Mary Beth; Polun, Cassandra; Bale, Sherri; Atton, Giles; Robinson, Alexandra; Reigstad, Hallvard; Houge, Gunnar; von der Wense, Axel; Becker, Wolf-Henning; Jeffery, Steve; Mortimer, Peter S; Gordon, Kristiana; Josephs, Katherine S; Robart, Sarah; Kilby, Mark D; Vallee, Stephanie; Gorski, Jerome L; Hempel, Maja; Berland, Siren; Mansour, Sahar; Ostergaard, Pia.

Genet Med; 23(7): 1315-1324, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-33864021

3.

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

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

J Med Genet; 57(10): 653-659, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32409509

4.

The benefits of latex-free gloves in the operating room environment.

Henry, Nader; Icot, Romelyn; Jeffery, Steve.

Br J Nurs; 29(10): 570-576, 2020 May 28.

Artículo en Inglés | MEDLINE | ID: mdl-32463756

5.

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju, Hariharan; Ware, James S; Skinner, Jonathan R; Hedley, Paula L; Arno, Gavin; Love, Donald R; van der Werf, Christian; Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Cohen, Marta C; Li, Xinzhong; John, Shibu; Sharma, Sanjay; Jeffery, Steve; Wilde, Arthur A M; Christiansen, Michael; Sheppard, Mary N; Behr, Elijah R.

BMC Cardiovasc Disord; 19(1): 174, 2019 07 23.

Artículo en Inglés | MEDLINE | ID: mdl-31337358

6.

Case 9. Hard-to-heal leg ulcer.

McRobert, John; Delloson, Debbie; Jeffery, Steve.

J Wound Care; 32(Sup12a): S24-S26, 2023 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-38175773

7.

Practical applications of small intestine submucosa extracellular matrix (SIS-ECM) an expert panel consensus.

Somani, Ally-Khan; Atkin, Leanne; Bechara, Falk G; Davidson, Jeffrey M; Jeffery, Steve; Mostow, Eliot; Simman, Richard; Armstrong, David G; Karatzias, Angelos; Martínez, José Luis Lázaro; Milne, Jeanette; de Ceniga, Melina Vega.

J Wound Care; 32(Sup9b): S1-S16, 2023 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-37703212

8.

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

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

Int J Mol Sci; 19(8)2018 Aug 01.

Artículo en Inglés | MEDLINE | ID: mdl-30071673

9.

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege; Grigoriadis, Dionysios; Karapouliou, Christina; Nadarajah, Noeline; Ebbing, Cathrine; Lord, Jenny; Mellis, Rhiannon; Kortuem, Fanny; Dinulos, Mary Beth; Polun, Cassandra; Bale, Sherri; Atton, Giles; Robinson, Alexandra; Reigstad, Hallvard; Houge, Gunnar; von der Wense, Axel; Becker, Wolf-Henning; Jeffery, Steve; Mortimer, Peter S; Gordon, Kristiana; Josephs, Katherine S; Robart, Sarah; Kilby, Mark D; Vallee, Stephanie; Gorski, Jerome L; Hempel, Maja; Berland, Siren; Mansour, Sahar; Ostergaard, Pia.

Genet Med; 23(7): 1376-1377, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-34040196

10.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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

Am J Hum Genet; 90(2): 356-62, 2012 Feb 10.

Artículo en Inglés | MEDLINE | ID: mdl-22284827

11.

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.

Gordon, Kristiana; Schulte, Dörte; Brice, Glen; Simpson, Michael A; Roukens, M Guy; van Impel, Andreas; Connell, Fiona; Kalidas, Kamini; Jeffery, Steve; Mortimer, Peter S; Mansour, Sahar; Schulte-Merker, Stefan; Ostergaard, Pia.

Circ Res; 112(6): 956-60, 2013 Mar 15.

Artículo en Inglés | MEDLINE | ID: mdl-23410910

12.

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Gordon, Kristiana; Spiden, Sarah L; Connell, Fiona C; Brice, Glen; Cottrell, Sally; Short, John; Taylor, Rohan; Jeffery, Steve; Mortimer, Peter S; Mansour, Sahar; Ostergaard, Pia.

Hum Mutat; 34(1): 23-31, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23074044

13.

Bespoke dressings for discerning practitioners.

Jeffery, Steve.

Br J Nurs; 27(20): S4, 2018 Nov 08.

Artículo en Inglés | MEDLINE | ID: mdl-30418850

14.

Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions.

Pearce, Julian; Hadcocks, Linda; Mansour, Sahar; van Zanten, Malou; Jeffery, Steve; Gordon, Kristiana; Ostergaard, Pia; Mortimer, Peter; Macallan, Derek C.

Front Immunol; 14: 1279077, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-38022535

15.

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Hazan, Filiz; Ostergaard, Pia; Ozturk, Taylan; Kantekin, Esin; Atlihan, Fusun; Jeffery, Steve; Ozkinay, Ferda.

Am J Med Genet A; 158A(7): 1686-9, 2012 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-22653704

16.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard, Pia; Simpson, Michael A; Brice, Glen; Mansour, Sahar; Connell, Fiona C; Onoufriadis, Alexandros; Child, Anne H; Hwang, Jae; Kalidas, Kamini; Mortimer, Peter S; Trembath, Richard; Jeffery, Steve.

J Med Genet; 48(4): 251-5, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21266381

17.

Wound care research: why do it?

Jeffery, Steve.

Br J Nurs; 26(12 Suppl): S4, 2017 Jun 22.

Artículo en Inglés | MEDLINE | ID: mdl-28640717

18.

Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

Grigoriadis, Dionysios; Sackey, Ege; Riches, Katie; van Zanten, Malou; Brice, Glen; England, Ruth; Mills, Mike; Dobbins, Sara E; Lee, Li Ling; Jeffery, Steve; Dong, Liang; Savage, David B; Mortimer, Peter S; Keeley, Vaughan; Pittman, Alan; Gordon, Kristiana; Ostergaard, Pia.

PLoS One; 17(10): e0274867, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36227936

19.

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

Ostergaard, P; Simpson, M A; Jeffery, Steve.

Clin Genet; 80(2): 110-6, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-21595654

20.

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Mellor, Russell H; Tate, Naomi; Stanton, Anthony W B; Hubert, Charlotte; Mäkinen, Taija; Smith, Alberto; Burnand, Kevin G; Jeffery, Steve; Levick, J Rodney; Mortimer, Peter S.

J Vasc Res; 48(5): 397-407, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21464574

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