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收藏Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies
Haegerling, Rene; Van Zanten, Malou; Behncke, Rose Yinghan; Ulferts, Sascha; Hansmeier, Nils R.; Maerkl, Bruno; Witzel, Christian; Ho, Bernard; Keeley, Vaughan; Riches, Katie; Mansour, Sahar; Gordon, Kristiana; Ostergaard, Pia; Mortimer, Peter S. 分享 收藏 分享 收藏 Use of fluorescence imaging during lymphatic surgery: A Delphi survey of experts worldwideDip, Fernando; Alexandru, Nistor; Amore, Miguel; Becker, Corinne; Belgrado, Jean-Paul; Bourgeois, Pierre; Chang, Edward I-Fei; Koshima, Isao; Liberale, Gabriel; Masia, Jaume; Mortimer, Peter; Neligan, Peter; Batista, Bernardo Nogueira; Olszewski, Waldemar; Salvia, Sophia Alexia; Suami, Hiroo; Vankerckhove, Sophie; Yamamoto, Takumi; Lo Menzo, Emanuele; White, Kevin P.; Rosenthal, Raul J. 分享 收藏 Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and wartsMansour, Sahar; Josephs, Katherine S.; Ostergaard, Pia; Gordon, Kristiana; Van Zanten, Malou; Pearce, Julian; Jeffery, Steve; Keeley, Vaughan; Riches, Katie; Kreuter, Alexander; Wieland, Ulrike; Haegerling, Rene; Ratnam, Lakshmi; Sackey, Ege; Grigoriadis, Dionysios; Ho, Bernard; Smith, Frances; Rauter, Elisabeth; Mortimer, Peter; Macallan, Derek 分享 收藏 分享 收藏 Mutations in EPHB4 cause human venous valveLyons, Oliver; Walker, James; Seet, Christopher; Ikram, Mohammed; Kuchta, Adam; Arnold, Andrew; Hernandez-Vasquez, Magda; Frye, Maike; Vizcay-Barrena, Gema; Fleck, Roland A.; Patel, Ashish S.; Padayachee, Soundrie; Mortimer, Peter; Jeffery, Steve; Berland, Siren; Mansour, Sahar; Ostergaard, Pia; Makinen, Taija; Modarai, Bijan; Saha, Prakash; Smith, Alberto 分享 收藏 Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes面对Janus的EPHB4-associated疾病: 新的致病变异和未报告的家族性重叠表型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 分享 收藏 Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Apr, 10.1038/s41436-021-01136-7, 2021)面对Janus的EPHB4-associated疾病: 新的致病变异和未报告的家族性重叠表型 (4月，10.1038/s41436-021-01136-7，2021)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 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis (vol 6, 8035, 2015)Fotiou, Elisavet; Martin-Almedina, Silvia; Simpson, Michael A.; Lin, Shin; Gordon, Kristiana; Brice, Glen; Atton, Giles; Jeffery, Iona; Rees, David C.; Mignot, Cyril; Vogt, Julie; Homfray, Tessa; Snyder, Michael P.; Rockson, Stanley G.; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Ostergaard, Pia 分享 收藏 分享 收藏 分享 收藏 VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformationsHaegerling, Rene; Drees, Dominik; Scherzinger, Aaron; Dierkes, Cathrin; Martin-Almedina, Silvia; Butz, Stefan; Gordon, Kristiana; Schaefers, Michael; Hinrichs, Klaus; Ostergaard, Pia; Vestweber, Dietmar; Goerge, Tobias; Mansour, Sahar; Jiang, Xiaoyi; Mortimer, Peter S.; Kiefer, Friedemann 分享 收藏 Human venous valve disease caused by mutations in FOXC2 and GJC2Lyons, Oliver; Saha, Prakash; Seet, Christopher; Kuchta, Adam; Arnold, Andrew; Grover, Steven; Rashbrook, Victoria; Sabine, Amelie; Vizcay-Barrena, Gema; Patel, Ash; Ludwinski, Francesca; Padayachee, Soundrie; Kume, Tsutomu; Kwak, Brenda R.; Brice, Glen; Mansour, Sahar; Ostergaard, Pia; Mortimer, Peter; Jeffery, Steve; Brown, Nigel; Makinen, Taija; Petrova, Tatiana V.; Modarai, Bijan; Smith, Alberto 分享 收藏 分享 收藏 Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitroPink, A. E.; Dafou, D.; Desai, N.; Holmes, O.; Hobbs, C.; Smith, C. H.; Mortimer, P.; Simpson, M. A.; Trembath, R. C.; Barker, J. N. 分享 收藏 EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalisMartin-Almedina, Silvia; Martinez-Corral, Ines; Holdhus, Rita; Vicente, Andres; Fotiou, Elisavet; Lin, Shin; Petersen, Kjell; Simpson, Michael A.; Hoischen, Alexander; Gilissen, Christian; Jeffery, Heather; Atton, Giles; Karapouliou, Christina; Brice, Glen; Gordon, Kristiana; Wiseman, John W.; Wedin, Marianne; Rockson, Stanley G.; Jeffery, Steve; Mortimer, Peter S.; Snyder, Michael P.; Berland, Siren; Mansour, Sahar; Makinen, Taija; Ostergaard, Pia 分享 收藏 
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