| Ident. | Authors (with country if any) | Title |
|---|
| 004942 (2012) |
Hiroyuki Ishida [Japon] ; Kosuke Imai [Japon] ; Kenichi Honma [Japon] ; Shin-Ichi Tamura [Japon] ; Toshihiko Imamura [Japon] ; Masafumi Ito [Japon] ; Shigeaki Nonoyama [Japon] | GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia |
| 005159 (2011) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Alexandros Onoufriadis [Royaume-Uni] ; Anne H. Child [Royaume-Uni] ; Jae Hwang [Royaume-Uni] ; Kamini Kalidas [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Richard Trembath [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] | Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype |
| 005E29 (2010) |
F. Connell ; G. Brice [Royaume-Uni] ; S. Jeffery ; V. Keeley [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; S. Mansour [Royaume-Uni] | A new classification system for primary lymphatic dysplasias based on phenotype |
| 005E90 (2010) |
Joseph M. Rutkowski [Suisse] ; Carl Erik Markhus [Norvège] ; Christina C. Gyenge [Norvège] ; Kari Alitalo [Finlande] ; Helge Wiig [Norvège] ; Melody A. Swartz [Suisse] | Dermal Collagen and Lipid Deposition Correlate with Tissue Swelling and Hydraulic Conductivity in Murine Primary Lymphedema |
| 007760 (2007) |
Karmen M. Trzupek [États-Unis] ; Rena E. Falk [États-Unis] ; Joseph L. Demer [États-Unis] ; Richard G. Weleber [États-Unis] | Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype |
| 008D24 (2004) |
Cagri Yildirim-Toruner [États-Unis] ; Kavitha Subramanian [États-Unis] ; Lamya El Manjra [États-Unis] ; Emily Chen [États-Unis] ; Stanley Goldstein [États-Unis] ; Emilia Vitale [États-Unis, Italie] | A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus |
| 009255 (2003) |
Alexandre Irrthum [États-Unis] ; Koenraad Devriendt [Belgique] ; David Chitayat [États-Unis] ; Gert Matthijs [Belgique] ; Conrad Glade [Pays-Bas] ; Peter M. Steijlen [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Maurice A. M. Van Steensel [Pays-Bas] ; Miikka Vikkula [États-Unis] | Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia |
| 009581 (2002) |
F. Forzano [Italie] ; F. Faravelli [Italie] ; A. Loy [Italie] ; M. Di Rocco [Italie] | Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype |
| 009673 (2002) |
Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review |
| 009721 (2002) |
M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre [France] ; R. Couderc ; M-P Vazquez [France] | FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate |
| 009791 (2002) |
G. Brice [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; R. Bell [Royaume-Uni] ; J R O. Collin [Royaume-Uni] ; A H Child [Royaume-Uni] ; A F Brady [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; K G Burnand [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; V A Murday [Royaume-Uni] | Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 |
| 009873 (2002) |
Tsutomu Ogata [Japon] ; Koji Muroya [Japon] ; Goro Sasaki [Japon] ; Gen Nishimura [Japon] ; Hiroshi Kitoh [Japon] ; Tadashi Hattori [Japon] | SHOX nullizygosity and haploinsufficiency in a japanese family : Implication for the development of Turner skeletal features |
| 009E93 (2001) |
S. Mansour [Royaume-Uni] ; H. Woffendin [Royaume-Uni] ; S. Mitton [Royaume-Uni] ; I. Jeffery [Royaume-Uni] ; T. Jakins [Royaume-Uni] ; S. Kenwrick [Royaume-Uni] ; V. A. Murday [Royaume-Uni] | Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection |
| 00A543 (2000) |
David J. Amor [Australie] ; Richard J. Leventer [États-Unis, Australie] ; Sari Hayllar [Australie] ; Agnes Bankier [Australie] | Polymicrogyria associated with scalp and limb defects: Variant of Adams‐Oliver syndrome |
| 00A699 (2000) |
Sébastien Jacquemont [France] ; Sébastien Barbarot [France] ; Michelle Bocéno [France] ; Jean François Stalder [France] ; Albert David [France] | Familial congenital pulmonary lymphangectasia, non‐immune hydrops fetalis, facial and lower limb lymphedema: Confirmation of Njolstad's report |
| 00A893 (2000) |
JIANMING FANG [États-Unis] ; Susan L. Dagenais [États-Unis] ; Robert P. Erickson [États-Unis] ; Martin F. Arlt [États-Unis] ; Michael W. Glynn [États-Unis] ; Jerome L. Gorski [États-Unis] ; Laurie H. Seaver [États-Unis] ; Thomas W. Glover [États-Unis] | Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome |
| 00AD76 (1999) |
Chanin Limwongse [États-Unis] ; Richard E. Wyszynski [États-Unis] ; Lois H. Dickerman [États-Unis] ; Nathaniel H. Robin [États-Unis] | Microcephaly‐lymphedema‐chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance |
| 00AF61 (1999) |
J. Mangion [Royaume-Uni] ; N. Rahman [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; G. Brice [Royaume-Uni] ; J. Rosbotham [Royaume-Uni] ; A. H. Child [Royaume-Uni] ; V. A. Murday [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; R. Barfoot [Royaume-Uni] ; A. Sigurdsson [Royaume-Uni] ; S. Edkins [Royaume-Uni] ; M. Sarfarazi ; K. Burnand [Royaume-Uni] ; A. L. Evans [Royaume-Uni] ; T. O. Nunan [Royaume-Uni] ; M. R. Stratton [Royaume-Uni] ; S. Jeffery [Royaume-Uni] | A Gene for Lymphedema-Distichiasis Maps to 16q24.3 |
| 00B465 (1998) |
Sibylle Strenge [Allemagne] ; Ursula G. Froster [Allemagne] | Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation |
| 00B661 (1998) |
M. H. Witte [États-Unis] ; R. Erickson [États-Unis] ; M. Bernas [États-Unis] ; M. Andrade [Brésil] ; F. Reiser [États-Unis] ; W. Conlon [États-Unis] ; H. E. Hoyme [États-Unis] ; C. L. Witte [États-Unis] | Phenotypic and genotypic heterogeneity in familial Milroy lymphedema |
| 00B670 (1998) |
C. Stoll [France] ; Y. Alembik [France] ; B. Dott [France] ; P. Kieffer [France] | Lymphedema combined with brachydactyly and tachycardia |
