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Items: 1 to 20 of 148

1.
Fused toes homolog, a potential molecular regulator of human papillomavirus type 16 E6 and E7 oncoproteins in cervical cancer
Prabakaran D. S., Pankaj Kumar Chaturvedi, Dineshkumar Krishnamoorthy, Young-Seok Seo, Mallikarjuna Thippana, Woo-Yoon Park
PLoS One. 2022; 17(4): e0266532. Published online 2022 Apr 14. doi: 10.1371/journal.pone.0266532
PMCID:
PMC9009596
ArticlePDF–2.5M
2.
Predictive Factors of Keloid Formation in Congenital Foot Syndactyly: Erratum
Plast Reconstr Surg Glob Open. 2022 Jan; 10(1): e4176. Published online 2022 Jan 31. doi: 10.1097/GOX.0000000000004176
Corrects:
Plast Reconstr Surg Glob Open. 2021 Nov; 9(11): e3946.
PMCID:
PMC8849312
CorrectionPDF–521K
3.
Predictive Factors of Keloid Formation in Congenital Foot Syndactyly
Sang Ho Oh, Sang Hyun Woo
Plast Reconstr Surg Glob Open. 2021 Nov; 9(11): e3946. Published online 2021 Nov 29. doi: 10.1097/GOX.0000000000003946
Correction in:
Plast Reconstr Surg Glob Open. 2022 Jan; 10(1): e4176.
PMCID:
PMC8615357
ArticlePDF–1000K
4.
Silencing of Fused Toes Homolog (FTS) Increases Radiosensitivity to Carbon-Ion Through Downregulation of Notch Signaling in Cervical Cancer Cells
Prabakaran D.S., Pankaj Kumar Chaturvedi, Takashi Shimokawa, Ki-Hwan Kim, Woo-Yoon Park
Front Oncol. 2021; 11: 730607. Published online 2021 Oct 26. doi: 10.3389/fonc.2021.730607
PMCID:
PMC8576531
ArticlePDF–20M
5.
足背六边形皮瓣在第 4、5 趾并趾伴小趾多趾畸形矫形中的应用
浩 商, 放 张, 鹏远 罗, 强 任, 康 王
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2020 Dec; 34(12): 1590–1593. Chinese. doi: 10.7507/1002-1892.202007076
PMCID:
PMC8171559
ArticlePDF–2.4M
6.
Foot Syndactyly: A Clinical and Demographic Analysis
Jong Ho Kim, Byung Jun Kim, Sung Tack Kwon
Arch Plast Surg. 2016 Nov; 43(6): 559–563. Published online 2016 Nov 18. doi: 10.5999/aps.2016.43.6.559
PMCID:
PMC5122546
ArticlePDF–1.1M
7.
The Modified 3-square Flap Method for Reconstruction of Toe Syndactyly
Naoshige Iida, Ayako Watanabe
Plast Reconstr Surg Glob Open. 2016 Jul; 4(7): e793. Published online 2016 Jul 11. doi: 10.1097/GOX.0000000000000735
PMCID:
PMC4977121
ArticlePDF–549K
8.
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee
Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271
PMCID:
PMC10724508
ArticlePDF–1.7M
9.
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
Congshan Jiang, Yanmin Zhang
Expert Rev Mol Med. 2023; 25: e17. Published online 2023 May 3. doi: 10.1017/erm.2023.11
PMCID:
PMC10407238
ArticlePDF–580K
10.
Toxoplasma gondii HOOK-FTS-HIP Complex is Critical for Secretory Organelle Discharge during Motility, Invasion, and Egress
David J. Dubois, Sylia Chehade, Jean-Baptiste Marq, Kannan Venugopal, Bohumil Maco, Albert Tell I. Puig, Dominique Soldati-Favre, Sabrina Marion
mBio. 2023 May-Jun; 14(3): e00458-23. Published online 2023 Apr 24. doi: 10.1128/mbio.00458-23
PMCID:
PMC10294612
ArticlePDF–4.7M
11.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849
PMCID:
PMC10137688
ArticlePDF–2.5M
12.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
Guoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy-Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria B.P. Toralles, Paula M.L. Pitanga, Ratna D. Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli-Avella, Nouriya Al-Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson
N Engl J Med. Author manuscript; available in PMC 2022 Apr 19.
Published in final edited form as: N Engl J Med. 2021 Sep 30; 385(14): 1292–1301. doi: 10.1056/NEJMoa2033911
PMCID:
PMC9017221
ArticlePDF–923K
13.
Novel variants identified in CKAP2L in two siblings with Filippi syndrome
Ryan J. Patrick, Jill Weimer, Laura Davis-Keppen, Megan L. Landsverk
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006130. doi: 10.1101/mcs.a006130
PMCID:
PMC8958909
ArticlePDF–526K
14.
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report
Martina Pecimonova, Jan Radvanszky, David Smolak, Jaroslav Budis, Michal Lichvar, Diana Kristinova, Ivica Rozova, Jan Turna, Tomas Szemes
Medicine (Baltimore) 2021 Jun 4; 100(22): e26136. Published online 2021 Jun 4. doi: 10.1097/MD.0000000000026136
PMCID:
PMC8183750
ArticlePDF–783K
15.
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
Yuki Otsuki, Koichi Ueda, Takashi Nuri, Chisei Satoh, Ryuta Maekawa, Koh-ichiro Yoshiura
Medicine (Baltimore) 2020 Oct 30; 99(44): e22816. Published online 2020 Oct 30. doi: 10.1097/MD.0000000000022816
PMCID:
PMC7598809
ArticlePDF–393K
16.
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E. Hoover-Fong
Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 24.
Published in final edited form as: Am J Med Genet A. 2019 Mar; 179(3): 410–416. Published online 2019 Jan 23. doi: 10.1002/ajmg.a.61037
PMCID:
PMC7038632
ArticlePDF–183K
17.
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
Miriam Elbracht, Florian Kraft, Matthias Begemann, Petra Holschbach, Michael Mull, Ildiko M. Kabat, Britta Müller, Martin Häusler, Ingo Kurth, Ute Hehr
Mol Genet Genomic Med. 2018 Nov; 6(6): 1255–1260. Published online 2018 Nov 4. doi: 10.1002/mgg3.490
PMCID:
PMC6305664
ArticlePDF–826K
18.
Specific retinal phenotype in early IQCB1-related disease
A Vincent, A AlAli, H MacDonald, C VandenHoven, E Héon
Eye (Lond) 2018 Mar; 32(3): 646–651. Published online 2017 Dec 8. doi: 10.1038/eye.2017.283
PMCID:
PMC5848295
ArticlePDF–1.4M
19.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
ArticlePDF–1.1M
20.
Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T. Pagnamenta, Kay.A. Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, The Deciphering Developmental Disorders study, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cecile Masson, Ratna Tripathy, David Keays, Cherif Beldjord, Laurent Nguyen, Juliette Godin, Usha Kini, Patrick Nischké, Jean-François Deleuze, Nadia Bahi-Buisson, Izabela Sumara, Maria-Victoria Hinckelmann, Jamel Chelly
Nat Genet. Author manuscript; available in PMC 2017 Apr 3.
Published in final edited form as: Nat Genet. 2016 Nov; 48(11): 1349–1358. Published online 2016 Oct 3. doi: 10.1038/ng.3676
PMCID:
PMC5086093
ArticlePDF–2.6M

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