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Select item 74346091.

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome

Azeez A. Alade, Carmen J. Buxo‐Martinez, Peter A. Mossey, Lord J.J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Thirona Naicker, Waheed A. Awotoye, Chinyere Adeleke, Tamara Busch, Ada M. Toraño, Carolina A. Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F. Cordero, Lydia M. Lopez‐Del Valle, Maria I. Salcedo, Natalio Debs, Mary Li, Aline Petrin, Joy Olotu, Colleen Aldous, James Olutayo, Modupe O. Ogunlewe, Fekir Abate, Taye Hailu, Ibrahim Muhammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Oluwole A. Adeniyan, Solomon Obiri‐Yeboah, Fareed K.N. Arthur, Alexander A. Oti, Olubukola Olatosi, Sara E. Miller, Peter Donkor, Martine M. Dunnwald, Mary L. Marazita, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali

Mol Genet Genomic Med. 2020 Aug; 8(8): e1355. Published online 2020 Jun 17. doi: 10.1002/mgg3.1355

PMCID:: PMC7434609

Abstract Article PDF–547K

Select item 53085292.

Concurrent Van der Woude syndrome and Turner syndrome: A case report

Evan Los, Hayley Baines, Ines Guttmann-Bauman

SAGE Open Med Case Rep. 2017; 5: 2050313X16687916. Published online 2017 Jan 13. doi: 10.1177/2050313X16687916

PMCID:: PMC5308529

Abstract Article PDF–328K

Select item 55832023.

Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Sunil Richardson, Rakshit Vijay Khandeparker

J Korean Assoc Oral Maxillofac Surg. 2017 Aug; 43(4): 267–271. Published online 2017 Aug 24. doi: 10.5125/jkaoms.2017.43.4.267

PMCID:: PMC5583202

Abstract Article PDF–7.6M

Select item 57760064.

Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome

Ms. Katherine Hixon, Ms. Lindsey Rhea, Ms. Jennifer Standley, Mr. Frank J. Canady, Dr. John W. Canady, Dr. Martine Dunnwald

Cleft Palate Craniofac J. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Cleft Palate Craniofac J. 2017 May; 54(3): 281–286. Published online 2016 Apr 26. doi: 10.1597/15-275

PMCID:: PMC5776006

Abstract Article PDF–888K

Select item 63114055.

Congenital lower lip pits: Van der Woude syndrome

Veenu Gurpal-Chhabda, Gurpal Singh-Chhabda

J Clin Exp Dent. 2018 Nov; 10(11): e1127–e1129. Published online 2018 Nov 1. doi: 10.4317/jced.54953

PMCID:: PMC6311405

Abstract Article PDF–1.0M

Select item 66363586.

Surgical, Speech, and Audiologic Outcomes in Patients with Orofacial Cleft and Van der Woude Syndrome

Spencer Kitchin, Lynn Grames, Sybill D. Naidoo, Gary Skolnick, Alyssa Schoenborn, D Au., Alison Snyder-Warwick, Kamlesh Patel

J Craniofac Surg. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: J Craniofac Surg. 2019 Jul; 30(5): 1484–1487. doi: 10.1097/SCS.0000000000005590

PMCID:: PMC6636358

Abstract Article PDF–212K

Select item 67318117.

Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

Dilharan D Eliezer, Himanshu Goel, Virginia M Turner, Aniruddh Deshpande

BMJ Case Rep. 2019; 12(9): e229938. Published online 2019 Sep 4. doi: 10.1136/bcr-2019-229938

PMCID:: PMC6731811

Abstract Article PDF–1.2M

Select item 70397988.

干扰素调节因子6基因致病的Van der Woude综合征的家系调查和遗传特点分析

杜新雅, 李晓宇, 武斌, 谢春, 田卫东

Hua Xi Kou Qiang Yi Xue Za Zhi. 2018 Dec; 36(6): 623–627. Chinese. doi: 10.7518/hxkq.2018.06.008

PMCID:: PMC7039798

Abstract Article PDF–1.5M

Select item 70450759.

Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family

DINESH S. MANJEGOWDA, MANU PRASAD, AVINASH M. VEERAPPA, NALLUR B. RAMACHANDRA

Genet Res (Camb) 2014; 96: e12. Published online 2014 Oct 10. doi: 10.1017/S0016672314000159

PMCID:: PMC7045075

Abstract Article PDF–623K

Select item 721681610.

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome

Yanqin Yu, Yatao Wan, Chuanqi Qin, Haitang Yue, Zhuan Bian, Miao He

Mol Genet Genomic Med. 2020 May; 8(5): e1196. Published online 2020 Feb 28. doi: 10.1002/mgg3.1196

PMCID:: PMC7216816

Abstract Article PDF–1.1M

Select item 728917511.

Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family

Mengqi Zhang, Jieni Zhang, Huaxiang Zhao, Vitaly Ievlev, Wenjie Zhong, Wenbin Huang, Robert A. Cornell, Jiuxiang Lin, Feng Chen

Front Genet. 2020; 11: 562. Published online 2020 Jun 4. doi: 10.3389/fgene.2020.00562

PMCID:: PMC7289175

Abstract Article PDF–7.5M

Select item 755280612.

A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes

Martin Degen, Eleftheria Girousi, Julia Feldmann, Ludovica Parisi, Giorgio C. La Scala, Isabelle Schnyder, André Schaller, Christos Katsaros

Front Cell Dev Biol. 2020; 8: 583115. Published online 2020 Sep 29. doi: 10.3389/fcell.2020.583115

PMCID:: PMC7552806

Abstract Article PDF–6.3M

Select item 745771613.

A clinical and multi-omics study of Van der Woude syndrome in three generations of a Chinese family

Kai Yang, Xing-Yue Dong, Jue Wu, Jian-Jiang Zhu, Ya Tan, You-Sheng Yan, Li Lin, Dong-Liang Zhang

Mol Med Rep. 2020 Oct; 22(4): 2925–2931. Published online 2020 Jul 28. doi: 10.3892/mmr.2020.11365

PMCID:: PMC7457716

Abstract Article PDF–645K

Select item 837831314.

Popliteal Pterygium With Van Der Woude Syndrome

Monica Dobs, Mohamed A Ghamry, Priyanka Anvekar, Petras Lohana, Syed R Ali

Cureus. 2021 Jul; 13(7): e16573. Published online 2021 Jul 22. doi: 10.7759/cureus.16573

PMCID:: PMC8378313

Abstract Article PDF–821K

Select item 879564515.

Lower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature

Jong-Ho Kim, Byungkwon Kang, Baek-Kyu Kim

Arch Plast Surg. 2022 Jan; 49(1): 55–58. Published online 2022 Jan 15. doi: 10.5999/aps.2021.00850

PMCID:: PMC8795645

Abstract Article PDF–430K

Select item 880074716.

Van der Woude综合征一家系遗传学分析

Yuqing XU, Yeqing QIAN, Weimiao YAO, Minyue DONG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Aug 25; 48(4): 378–383. Chinese. doi: 10.3785/j.issn.1008-9292.2019.08.05

PMCID:: PMC8800747

Abstract Article PDF–3.6M

Select item 1120016117.

Surgical Treatment of Lip Pits in Van der Woude Syndrome: A Preliminary Retrospective Study of 24 Patients

Łukasz Wieprzowski, Zbigniew Surowiec, Ewa Sawicka, Andrzej Brudnicki

J Mother Child. 2024 Feb; 28(1): 45–50. Published online 2024 Jun 19. doi: 10.34763/jmotherandchild.20242801.d-24-00020

PMCID:: PMC11200161

Abstract Article PDF–924K

Select item 1118848418.

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

Zhiyang Zhao, Renjie Cui, Haoshu Chi, Teng Wan, Duan Ma, Jin Zhang, Ming Cai

Front Genet. 2024; 15: 1397410. Published online 2024 Jun 5. doi: 10.3389/fgene.2024.1397410

PMCID:: PMC11188484

Abstract Article PDF–2.5M

Select item 1063527919.

DNA methylation effects on Van der Woude Syndrome phenotypic variability

Amanda Seaberg, Waheed Awotoye, Fang Qian, Lindsey Dunlay, Azeez Butali, Jeff Murray, Lina Moreno-Uribe, Aline Petrin

Version 2. medRxiv. Preprint. 2023 Nov 5 [revised 2023 Dec 6]. doi: 10.1101/2023.11.04.23298094

Published in:: Cleft Palate Craniofac J. 2024 Aug 7 : 10556656241269495.

PMCID:: PMC10635279

Abstract Article

Select item 1039585820.

Van Der Woude Syndrome: A Case Series at Chu D’ Treichville, Abidjan, Cote D’ Ivoire

Ajibola Yussuf Salami, Kouame Soroboua Agbara, Olivier Martial Moulot, Adjoba Manuela Ehua, Taofiq Olamide Opaleye, Adewale Oluwafemi Adesina, Rouma Bankole

J West Afr Coll Surg. 2023 Jul-Sep; 13(3): 56–58. Published online 2023 Jun 27. doi: 10.4103/jwas.jwas_20_23

PMCID:: PMC10395858

Abstract Article PDF–811K

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