Ident. | Authors (with country if any) | Title |
---|
000D14 (2016) |
F. Vidal [France] ; M. Arrault [France] ; S. Vignes [France] | Paediatric primary lymphoedema: a cohort of 155 children and newborns. |
000E37 (2016) |
Nadine Sousa Marques [Portugal] ; Ana Miranda [Portugal] ; Sandra Barros [Portugal] ; S Nia Parreira [Portugal] | Lymphoedema-distichiasis syndrome. |
000E50 (2016) |
Sean Mcdermott ; Conor Lahiff | Lymphedema-distichiasis syndrome |
001590 (2015) |
Seydou Bakayoko [Mali] ; Nouhoum Guirou [Mali] | [Distichiasis: an anomaly of eyelashes]. |
001D44 (2015) |
Paola Spitalieri [Italie] ; Rosa V. Talarico [Italie] ; Annalisa Botta [Italie] ; Michela Murdocca [Italie] ; Maria Rosaria D'Apice [Italie] ; Augusto Orlandi [Italie] ; Emiliano Giardina [Italie] ; Massimo Santoro [Italie] ; Francesco Brancati [Italie] ; Giuseppe Novelli [Italie] ; Federica Sangiuolo [Italie] | Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases. |
002282 (2014) |
S. Vignes [France] | [Treatment of varicose veins and limb lymphedema]. |
002881 (2014) |
Spring Golden [États-Unis] ; Dawn M. Davis ; Jerry D. Brewer | Lymphedema in a patient with distichiasis. |
002E70 (2014) |
L-L Zhu [République populaire de Chine] ; Y-N Lv ; H-D Chen ; X-H Gao | A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene. |
002F37 (2013) |
M. Marc [France] ; M. Barreau ; M. Gerard ; L. Verneuil ; L. Derieux ; A. Dompmartin | [Lymphoedema distichiasis]. |
002F55 (2013) |
N. Khen-Dunlop [France] ; J. Amiel ; C. Delacourt ; Y. Révillon | [Enigmatic lymphatic diseases involving the lung]. |
004075 (2012) |
Edyta Sutkowska [Pologne] ; Justyna Gil ; Agnieszka Stembalska ; Aneta Hill-Bator ; Andrzej Szuba | Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome. |
004225 (2012) |
Eileen Stewart [États-Unis] ; Shalea Piteau ; Michael Storr ; Jennifer Mackenzie ; Angela Hartsell ; Suresh Nagappan | Index of suspicion. |
004731 (2012) |
Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; José L. Garcia-Perez [États-Unis, Espagne] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] ; Peter Strouse [États-Unis] ; Jeffrey W. Innis [États-Unis] ; Thomas W. Glover [États-Unis] | Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation |
004C98 (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. |
004F46 (2011) |
K. Kaarthigeyan [Inde] ; M. Ramprakash [Inde] ; G. Kalpana [Inde] | Distichiasis-lymphedema syndrome with optic disc pit |
005513 (2010) |
S. Vignes [France] ; C. Canuel | [Abnormal eyelashes]. |
005662 (2010) |
Mehandi Haran [États-Unis] ; Ankur Lodha ; Malcolm Rose ; Sheldon Greenberg | Rare association of immunoglobulin A nephropathy and lymphedema-distichiasis syndrome. |
005953 (2010) |
E. Sutkowska [Pologne] ; A. Bator ; K. Trompeta ; A. Szuba | Different lymphscintigraphic patterns in patients with lymphedema distichiasis. |
005A56 (2010) |
A-L Fauret [France] ; E. Tuleja ; X. Jeunemaitre ; S. Vignes | A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome. |
005A67 (2010) |
Antonella Fabretto [Italie] ; Alison Shardlow ; Flavio Faletra ; Loredana Lepore ; Uros Hladnik ; Paolo Gasparini | A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. |
005B38 (2010) |
Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra [Thaïlande] ; Karn Wejathikul [Thaïlande] ; Wirawit Piyamongkol [Thaïlande] | c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient |
006182 (2009) |
M H Witte [États-Unis] ; R P Erickson ; M. Khalil ; M. Dellinger ; M. Bernas ; T. Grogan ; H. Nitta ; J. Feng ; D. Duggan ; C L Witte | Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. |
006A01 (2008) |
M T Dellinger [États-Unis] ; K. Thome ; M J Bernas ; R P Erickson ; M H Witte | Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. |
006D68 (2008) |
Fiona Connell ; Glen Brice ; Peter Mortimer (dermatologue) [Royaume-Uni] | Phenotypic Characterization of Primary Lymphedema |
006D71 (2008) |
Glen Brice [Royaume-Uni] | Perinatal diagnosis of a lymphoedema‐distichiasis syndrome |
006E09 (2008) |
Maaike Vreeburg ; Martijn V. Heitink ; Robert J. Damstra [Allemagne] ; Ute Moog [Allemagne] ; Michel Van Geel [Allemagne] ; Maurice A. M. Van Steensel [Allemagne] | Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene |
007365 (2007) |
Zeynep Celebi Sözener [Turquie] ; Mustafa Tekin ; Dil Ad Mungan ; Demet Karnak | A 15-year-old girl with swelling of the face, legs, breast, and eyes. |
007686 (2007) |
S. Kumar [Arabie saoudite] ; C. Carver ; S. Mccall ; G. Brice ; P. Ostergaard ; Peter Mortimer (dermatologue) [Royaume-Uni] ; S. Jeffery [Royaume-Uni] | A family with lymphoedema‐distichiasis where identical twins have a discordant phenotype |
007A17 (2006) |
A. Noon [États-Unis] ; R J Hunter ; M H Witte ; B. Kriederman ; M. Bernas ; M. Rennels ; D. Percy ; S. Enerb Ck ; R P Erickson | Comparative lymphatic, ocular, and metabolic phenotypes of Foxc2 haploinsufficient and aP2-FOXC2 transgenic mice. |
007E27 (2005) |
C. Guerrero Laleona ; S. Gimeno Aguilar ; D. Portilla C Rdova ; A. Honrrubia Grijalbo | [Distichiasis-lymphedema syndrome]. |
008103 (2005) |
Fred B. Berry ; Yahya Tamimi [Canada] ; Michelle V. Carle ; Ordan J. Lehmann [Canada] ; Michael A. Walter [Canada] | The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis |
008822 (2004) |
B B Patil ; R. Bell ; G. Brice ; S. Jeffery ; S P Desai | Distichiasis without lymphoedema? |
008E38 (2003) |
Brian P. Brooks [États-Unis] ; Susan L. Dagenais ; Christine C. Nelson ; Michael W. Glynn ; Mark S. Caulder ; Catherine A. Downs ; Thomas W. Glover | Mutation of the FOXC2 gene in familial distichiasis. |
008F22 (2003) |
M. Ameen [Royaume-Uni] ; G. Brice ; Peter Mortimer (dermatologue) [Royaume-Uni] | Clinicopathological case 2: lymphoedema-distichiasis syndrome. |
009136 (2003) |
Benjamin M. Kriederman ; Teressa L. Myloyde ; Marlys H. Witte ; Susan L. Dagenais ; Charles L. Witte ; Margaret Rennels ; Michael J. Bernas ; Michelle T. Lynch ; Robert P. Erickson ; Mark S. Caulder ; Naoyuki Miura ; David Jackson [Royaume-Uni] ; Brian P. Brooks [États-Unis] ; Thomas W. Glover | FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome |
009609 (2002) |
Imad R. Makhoul [Israël] ; Polo Sujov [Israël] ; Nadir Ghanem [Israël] ; Moshe Bronshtein [Israël] | Prenatal diagnosis of Milroy's primary congenital lymphedema |
009702 (2002) |
S. Jeffery [Royaume-Uni] | How double eyelashes give you swollen legs |
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 |
009889 (2002) |
Elias I. Traboulsi [États-Unis] ; Khouloud Al-Khayer [États-Unis] ; Masayuki Matsumoto [États-Unis] ; Mark A. Kimak [États-Unis] ; Susan Crowe [États-Unis] ; Steven E. Wilson [États-Unis] ; David N. Finegold [États-Unis] ; Robert E. Ferrell [États-Unis] ; David M. Meisler [États-Unis] | Lymphedema-distichiasis syndrome and FOXC2 gene mutation |
009E36 (2001) |
Marika J. Karkkainen [Finlande] ; Lotta Jussila [Finlande] ; Kari Alitalo [Finlande] ; Robert E. Ferrell ; David N. Finegold | Molecular regulation of lymphangiogenesis and targets for tissue oedema |
00A011 (2001) |
Robert P. Erickson ; Susan L. Dagenais ; Mark S. Caulder ; Catherine A. Downs ; Gail Herman ; Marilyn C. Jones ; Wilhelmina S. Kerstjens-Frederikse ; Andrew C. Lidral ; Marie Mcdonald ; Christine C. Nelson ; Marlys Witte ; Thomas W. Glover | Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations [Original article] [Original article] |
00A163 (2000) |
K. Morooka | [Distichiasis-lymphedema syndrome]. |
00A517 (2000) |
R. Bell ; G. Brice ; A H Child ; V A Murday ; S. Mansour ; C J Sandy ; J R O. Collin ; Peter Mortimer (dermatologue) [Royaume-Uni] ; D F Callen ; K. Burnand ; S. Jeffery | Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb |
00A996 (1999) |
S M Johnson ; J M Kincannon ; T D Horn | Lymphedema-distichiasis syndrome: report of a case and review. |
00C091 (1996) |
Emily Chen ; Susan K. Larabell ; Jamilyn M. Daniels [États-Unis] ; Stanley Goldstein [États-Unis] | Distichiasis‐lymphedema syndrome: Tetralogy of Fallot, chylothorax, and neonatal death |
00C855 (1994) |
I K Temple [Royaume-Uni] ; J R Collin | Distichiasis-lymphoedema syndrome: a family report. |
00CF36 (1993) |
B A O'Donnell [Royaume-Uni] ; J R Collin [Royaume-Uni] | Distichiasis: management with cryotherapy to the posterior lamella. |
00D561 (1991) |
M A Toro-Solá | Distichiasis-lymphedema syndrome and the Turner phenotype. |
00D874 (1991) |
T. Kolin [États-Unis] ; K. J. Johns ; W. B. Wadlington ; M. G. Butler ; M. A. Sunalp ; K. W. Wright | Hereditary lymphedema and distichiasis |
00D888 (1991) |
A. B. Jamjoom [Arabie saoudite] ; B. G. Mathew ; H. B. Coakham | A variant of the syndrome of spinal arachnoid cysts with multiple congential defects |