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Items: 12

1.
Foxc2 is required for proper cardiac neural crest cell migration, outflow tract septation, and ventricle expansion
Kimberly E. Inman, Carlo Donato Caiaffa, Kristin R. Melton, Lisa L. Sandell, Annita Achilleos, Tsutomu Kume, Paul A. Trainor
Dev Dyn. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Dev Dyn. 2018 Dec; 247(12): 1286–1296. doi: 10.1002/dvdy.24684
PMCID:
PMC6275097
AbstractArticlePDF–4.8M
2.
Human venous valve disease caused by mutations in FOXC2 and GJC2
Oliver Lyons, Prakash Saha, Christopher Seet, Adam Kuchta, Andrew Arnold, Steven Grover, Victoria Rashbrook, Amélie Sabine, Gema Vizcay-Barrena, Ash Patel, Francesca Ludwinski, Soundrie Padayachee, Tsutomu Kume, Brenda R. Kwak, Glen Brice, Sahar Mansour, Pia Ostergaard, Peter Mortimer, Steve Jeffery, Nigel Brown, Taija Makinen, Tatiana V. Petrova, Bijan Modarai, Alberto Smith
J Exp Med. 2017 Aug 7; 214(8): 2437–2452. doi: 10.1084/jem.20160875
PMCID:
PMC5551565
AbstractArticlePDF–3.1M
3.
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema–Distichiasis Syndrome
Paola Papoff, Marco Castori, Lucia Manganaro, Fabio Midulla, Corrado Moretti, Piero Cascone
J Maxillofac Oral Surg. 2016 Sep; 15(3): 384–389. Published online 2015 Mar 18. doi: 10.1007/s12663-015-0774-5
PMCID:
PMC5048309
AbstractArticlePDF–772K
4.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
5.
A Five Generation Family with a Novel Mutation in FOXC2 and Lymphedema Worsening to Hydrops in the Youngest Generation
Carole Sargent, Julien Bauer, Muhamed Khalil, Parker Filmore, Michael Bernas, Marlys Witte, M. Peggy Pearson, Robert P Erickson
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Am J Med Genet A. 2014 Nov; 164(11): 2802–2807. Published online 2014 Sep 22. doi: 10.1002/ajmg.a.36736
PMCID:
PMC4205179
AbstractArticlePDF–662K
6.
FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
Yoji Ogura, Shoji Yabuki, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Hiroki Kano, Masaaki Shiina, Shinichi Kikuchi, Yoshiaki Toyama, Kazuhiro Ogata, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa
PLoS One. 2013; 8(11): e80548. Published online 2013 Nov 22. doi: 10.1371/journal.pone.0080548
PMCID:
PMC3838418
AbstractArticlePDF–348K
7.
Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation
Matthew G. Butler, Susan L. Dagenais, José L. Garcia-Perez, Pascal Brouillard, Miikka Vikkula, Peter Strouse, Jeffrey W. Innis, Thomas W. Glover
Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 1.
Published in final edited form as: Am J Med Genet A. 2012 Apr; 158A(4): 839–849. Published online 2012 Mar 9. doi: 10.1002/ajmg.a.35229
PMCID:
PMC3314153
AbstractArticlePDF–2.1M
8.
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
M Ng, T Andrew, T Spector, S Jeffery, t (representing
J Med Genet. 2005 Mar; 42(3): 235–239. doi: 10.1136/jmg.2004.024075
PMCID:
PMC1736007
SummaryPDF–95K
9.
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
G Brice, S Mansour, R Bell, J Collin, A Child, A Brady, M Sarfarazi, K Burnand, S Jeffery, P Mortimer, V Murday
J Med Genet. 2002 Jul; 39(7): 478–483. doi: 10.1136/jmg.39.7.478
PMCID:
PMC1735188
SummaryPDF–186K
10.
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
R. Erickson, S. Dagenais, M. Caulder, C. Downs, G. Herman, M. Jones, W. Kerstjens-Frederi..., A. Lidral, M. McDonald, C. Nelson, M. Witte, T. Glover
J Med Genet. 2001 Nov; 38(11): 761–766. doi: 10.1136/jmg.38.11.761
PMCID:
PMC1734771
SummaryPDF–167K
11.
Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography.
R F Dale
J Med Genet. 1987 Mar; 24(3): 170–171. doi: 10.1136/jmg.24.3.170
PMCID:
PMC1049951
SummaryPage BrowsePDF–201K
12.
Distichiasis: management with cryotherapy to the posterior lamella.
B A O'Donnell, J R Collin
Br J Ophthalmol. 1993 May; 77(5): 289–292. doi: 10.1136/bjo.77.5.289
PMCID:
PMC504507
SummaryPage BrowsePDF–1.3M

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