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Items: 1 to 20 of 117

1.
Presence and development of strabismus in children with telecanthus, epicanthus and hypertelorism
Vidya S Mooss, V Kavitha, H N Ravishankar, Mallikarjun M Heralgi, Saba Aafreen
Indian J Ophthalmol. 2022 Oct; 70(10): 3618–3624. Published online 2022 Sep 30. doi: 10.4103/ijo.IJO_776_22
PMCID:
PMC9789851
AbstractArticlePDF–2.2M
2.
Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome
Ahmed Ali Amer, Marwa Mahmoud Abdellah, Nader Hussein Fouad Hassan, Amr Mounir
BMC Ophthalmol. 2022; 22: 226. Published online 2022 May 19. doi: 10.1186/s12886-022-02455-2
PMCID:
PMC9118630
AbstractArticlePDF–1.2M
3.
Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome
Alexa L. Li, Shyamanga Borooah, Eric Nudleman
Am J Ophthalmol Case Rep. 2022 Mar; 25: 101284. Published online 2022 Jan 20. doi: 10.1016/j.ajoc.2022.101284
PMCID:
PMC8810370
AbstractArticlePDF–3.7M
4.
Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome
Bong Gyu Choi, Yong-Ha Kim
Arch Craniofac Surg. 2019 Oct; 20(5): 329–331. Published online 2019 Oct 20. doi: 10.7181/acfs.2019.00395
PMCID:
PMC6822076
AbstractArticlePDF–659K
5.
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome
Salil Kumar Mandal, Aparna Mandal, James Christian Fleming, Tara Goecks, Andrew Meador, Brian T Fowler
J Clin Diagn Res. 2017 Mar; 11(3): NC05–NC08. Published online 2017 Mar 1. doi: 10.7860/JCDR/2017/25651.9496
PMCID:
PMC5427347
AbstractArticlePDF–653K
6.
The telecanthus-hypospadias syndrome.
C A Stevens, R S Wilroy, Jr
J Med Genet. 1988 Aug; 25(8): 536–542. doi: 10.1136/jmg.25.8.536
PMCID:
PMC1080030
SummaryPage BrowsePDF–1.1M
7.
Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
J. E. Reynolds, M. L. Marazita, J. M. Meyer, C. A. Stevens, L. J. Eaves, K. S. Arnos, L. M. Ploughman, C. MacLean, W. E. Nance, S. R. Diehl
Am J Hum Genet. 1996 Feb; 58(2): 384–392.
PMCID:
PMC1914540
SummaryPage BrowsePDF–1.3M
8.
Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly
Qin Shen, Xiaojun Zhao, Yongrong Ji, Peiwei Chai
J Craniofac Surg. 2024 Jan-Feb; 35(1): e52–e56. Published online 2023 Nov 8. doi: 10.1097/SCS.0000000000009801
PMCID:
PMC10749674
AbstractArticlePDF–411K
9.
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review
A. Martínez-Hernández, D. Martínez-Anaya, C. Durán-McKinster, V. Del Castillo-Ruiz, P. Navarrete-Meneses, E. J. Córdova, B. E. Villegas-Torres, A. Ruiz-Herrera, R. Juárez-Velázquez, E. Yokoyama-Rebollar, D. Cervantes-Barragán, A. Pedraza-Meléndez, L. Orozco, P. Pérez-Vera, C. Salas-Labadía
BMC Med Genomics. 2022; 15: 224. Published online 2022 Oct 31. doi: 10.1186/s12920-022-01382-x
PMCID:
PMC9620619
AbstractArticlePDF–1.5M
10.
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Mol Genet Genomic Med. 2021 Nov; 9(11): e1834. Published online 2021 Oct 12. doi: 10.1002/mgg3.1834
PMCID:
PMC8606204
AbstractArticlePDF–962K
11.
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
Mol Genet Genomic Med. 2021 Jun; 9(6): e1683. Published online 2021 May 12. doi: 10.1002/mgg3.1683
PMCID:
PMC8222828
AbstractArticlePDF–663K
12.
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features
Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver
Clin Dysmorphol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347
PMCID:
PMC7933106
AbstractArticlePDF–476K
13.
Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants
Emmanuelle Souzeau, Owen M. Siggs, Francesca Pasutto, Lachlan S. W. Knight, Luis A. Perez‐Jurado, Lesley McGregor, Shannon Le Blanc, Christopher P. Barnett, Jan Liebelt, Jamie E. Craig
Am J Med Genet A. 2021 Feb; 185(2): 434–439. Published online 2020 Nov 24. doi: 10.1002/ajmg.a.61982
PMCID:
PMC7839469
AbstractArticlePDF–2.4M
14.
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
Liu Jinxiu, Liang Shuimei, Xue Ming, Liu CS. Jonathan, Liu Xiangju, Duan Wenyuan
Medicine (Baltimore) 2020 Apr; 99(16): e19813. Published online 2020 Apr 17. doi: 10.1097/MD.0000000000019813
PMCID:
PMC7440326
AbstractArticlePDF–405K
15.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult-Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maité Courel, Marcus Naymik, Kristine K. Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean-François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean-Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton
Am J Hum Genet. 2019 Sep 5; 105(3): 509–525. Published online 2019 Aug 15. doi: 10.1016/j.ajhg.2019.07.010
PMCID:
PMC6731366
AbstractArticlePDF–2.8M
16.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, CAUSES Study, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Deciphering Developmental Disorders study, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau
Am J Hum Genet. 2019 Mar 7; 104(3): 530–541. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.010
PMCID:
PMC6407527
AbstractArticlePDF–2.4M
17.
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report
Eun Young Choi, Wungrak Choi, Christopher Seungkyu Lee
BMC Ophthalmol. 2018; 18: 266. Published online 2018 Oct 11. doi: 10.1186/s12886-018-0933-9
PMCID:
PMC6186106
AbstractArticlePDF–3.1M
18.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A.L. Ruivenkamp, Dagmar Wieczorek, The Deciphering Developmental Disorders Study, Diana Baralle, Edward M. Blair, Hartmut Engels, Hermann-Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek-Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellaker, Han G. Brunner, Andrew O.M. Wilkie
Am J Hum Genet. 2018 Jun 7; 102(6): 1195–1203. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.014
PMCID:
PMC5992133
AbstractArticlePDF–1.3M
19.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
J Med Genet. 2018 Jan; 55(1): 28–38. Published online 2017 Oct 11. doi: 10.1136/jmedgenet-2017-104620
PMCID:
PMC5749303
AbstractArticlePDF–1.3M
20.
Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome
Oscar F. Chacón-Camacho, Nara Sobreira, Jing You, Raul E. Piña-Aguilar, Vanessa Villegas-Ruiz, Juan C. Zenteno
Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 28.
Published in final edited form as: Am J Med Genet A. 2016 Jul; 170(7): 1934–1937. Published online 2016 May 3. doi: 10.1002/ajmg.a.37683
PMCID:
PMC5618706
AbstractArticlePDF–442K

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