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Select item 96321031.

Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype

Xuezhen Wang, Lili Guo, Bei Zhang, Jiebin Wu, Yu Sun, Huimin Tao, Jing Sha, Jingfang Zhai, Min Liu

Mol Cytogenet. 2022; 15: 48. Published online 2022 Nov 3. doi: 10.1186/s13039-022-00627-9

PMCID:: PMC9632103

Abstract Article PDF–1.0M

Select item 12879152.

Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Jianming Fang, Susan L. Dagenais, Robert P. Erickson, Martin F. Arlt, Michael W. Glynn, Jerome L. Gorski, Laurie H. Seaver, Thomas W. Glover

Am J Hum Genet. 2000 Dec; 67(6): 1382–1388. Published online 2000 Nov 8. doi: 10.1086/316915

Correction in:: Am J Hum Genet. 2001 Mar; 68(3): 818.

PMCID:: PMC1287915

Abstract Article PDF–504K

Select item 50483093.

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

Abstract Article PDF–772K

Select item 88007254.

淋巴水肿-双行睫综合征一家系遗传学及临床表型分析

Gang HU, Bei LIU, Min CHEN, Yeqing QIAN, Minyue DONG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25; 49(5): 581–585. Chinese. doi: 10.3785/j.issn.1008-9292.2020.10.05

PMCID:: PMC8800725

Abstract Article PDF–2.7M

Select item 93147005.

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Marina Michelson, Gabriel Lidzbarsky, Daniella Nishri, Ifat Israel‐Elgali, Rachel Berger, Michal Gafner, Noam Shomron, Dorit Lev, Yael Goldberg

Am J Med Genet A. 2022 Jul; 188(7): 1990–1996. Published online 2022 Mar 21. doi: 10.1002/ajmg.a.62730

PMCID:: PMC9314700

Abstract Article PDF–3.0M

Select item 88871896.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy

Orphanet J Rare Dis. 2022; 17: 86. Published online 2022 Feb 28. doi: 10.1186/s13023-022-02248-2

PMCID:: PMC8887189

Abstract Article PDF–2.7M

Select item 81468687.

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli

Genes (Basel) 2021 May; 12(5): 650. Published online 2021 Apr 27. doi: 10.3390/genes12050650

PMCID:: PMC8146868

Abstract Article PDF–16M

Select item 25688838.

Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia

David A. Stevenson, Theodore J. Pysher, Robert M. Ward, John C. Carey

Am J Med Genet A. Author manuscript; available in PMC 2008 Oct 16.

Published in final edited form as: Am J Med Genet A. 2006 Feb 15; 140(4): 368–372. doi: 10.1002/ajmg.a.31093

PMCID:: PMC2568883

Abstract Article PDF–1.0M

Select item 26737649.

FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate

Jie Huang, Lisa K. Dattilo, Ramya Rajagopal, Ying Liu, Vesa Kaartinen, Yuji Mishina, Chu-Xia Deng, Lieve Umans, An Zwijsen, Anita B. Roberts, David C. Beebe

Development. 2009 May 15; 136(10): 1741–1750. Published online 2009 Apr 15. doi: 10.1242/dev.034082

PMCID:: PMC2673764

Abstract Article

Select item 669366110.

Hereditary Lymphedema and Distichiasis

Talia Kolin, Karla J. Johns, William B. Wadlington, Merlin G. Butler, Murad A. Sunalp, Kenneth W. Wright

Arch Ophthalmol. Author manuscript; available in PMC 2019 Aug 14.

Published in final edited form as: Arch Ophthalmol. 1991 Jul; 109(7): 980–981. doi: 10.1001/archopht.1991.01080070092042

PMCID:: PMC6693661

Abstract Article PDF–839K

Select item 313431611.

Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax

John D. Kanady, Michael T. Dellinger, Stephanie J. Munger, Marlys H. Witte, Alexander M. Simon

Dev Biol. Author manuscript; available in PMC 2012 Jun 15.

Published in final edited form as: Dev Biol. 2011 Jun 15; 354(2): 253–266. Published online 2011 Apr 16. doi: 10.1016/j.ydbio.2011.04.004

PMCID:: PMC3134316

Abstract Article PDF–11M

Select item 383841812.

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

Abstract Article PDF–348K

Select item 1060354013.

A Rare Diagnosis of Paraesthesia in the Pediatric Age Group: Unmasking the Male Factor

Yashasvi Anand, Sanket S Bakshi, Swaroopa Chakole

Cureus. 2023 Sep; 15(9): e46047. Published online 2023 Sep 27. doi: 10.7759/cureus.46047

PMCID:: PMC10603540

Abstract Article PDF–282K

Select item 460711414.

FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature

Amélie Sabine, Esther Bovay, Cansaran Saygili Demir, Wataru Kimura, Muriel Jaquet, Yan Agalarov, Nadine Zangger, Joshua P. Scallan, Werner Graber, Elgin Gulpinar, Brenda R. Kwak, Taija Mäkinen, Inés Martinez-Corral, Sagrario Ortega, Mauro Delorenzi, Friedemann Kiefer, Michael J. Davis, Valentin Djonov, Naoyuki Miura, Tatiana V. Petrova

J Clin Invest. 2015 Oct 1; 125(10): 3861–3877. Published online 2015 Sep 21. doi: 10.1172/JCI80454

PMCID:: PMC4607114

Abstract Article PDF–10M

Select item 478554115.

A novel FOXC2 mutation in spinal extradural arachnoid cyst

Yoji Ogura, Shunsuke Fujibayashi, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Eijiro Okada, Yoshiaki Toyama, Akio Iwanami, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa

Hum Genome Var. 2015; 2: 15032. Published online 2015 Sep 17. doi: 10.1038/hgv.2015.32

PMCID:: PMC4785541

Abstract Article PDF–567K

Select item 664889116.

Crystal Structure of FOXC2 in Complex with DNA Target

Shichang Li, Lagnajeet Pradhan, Shayan Ashur, Anshu Joshi, Hyun-Joo Nam

ACS Omega. 2019 Jun 30; 4(6): 10906–10914. Published online 2019 Jun 24. doi: 10.1021/acsomega.9b00756

PMCID:: PMC6648891

Abstract Article PDF–6.3M

Select item 924049717.

Distichiasis: An update on etiology, treatment and outcomes

Swati Singh

Indian J Ophthalmol. 2022 Apr; 70(4): 1100–1106. Published online 2022 Mar 22. doi: 10.4103/ijo.IJO_1141_21

PMCID:: PMC9240497

Abstract Article PDF–3.1M

Select item 534233718.

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function

Daniela Tavian, Sara Missaglia, Paolo E. Maltese, Sandro Michelini, Alessandro Fiorentino, Maurizio Ricci, Roberta Serrani, Michael A. Walter, Matteo Bertelli

Oncotarget. 2016 Aug 23; 7(34): 54228–54239. Published online 2016 Jun 2. doi: 10.18632/oncotarget.9797

PMCID:: PMC5342337

Abstract Article PDF–2.0M

Select item 331415319.

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

Abstract Article PDF–2.1M

Select item 738328420.

The utility of exome sequencing for fetal pleural effusions

Angie C. Jelin, Nara Sobreira, Elizabeth Wohler, Benjamin Solomon, Teresa Sparks, Katelynn G Sagaser, Katherine R. Forster, Jena Miller, P. Dane Witmer, Ada Hamosh, David Valle, Karin Blakemore

Prenat Diagn. Author manuscript; available in PMC 2020 Jul 27.

Published in final edited form as: Prenat Diagn. 2020 Apr; 40(5): 590–595. Published online 2020 Feb 17. doi: 10.1002/pd.5650