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255 results for Acrocephalosyndactylia

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ArticlesPeer ReviewedFull Text
The developing mouse coronal suture at single-cell resolution
Author / Creator:Farmer, D’Juan T. ; Mlcochova, Hana ; Zhou, Yan ; Koelling, Nils ; Wang, Guanlin ; Ashley, Neil ; Bugacov, Helena ; Chen, Hung-Jhen ; Parvez, Riana ; Tseng, Kuo-Chang ; Merrill, Amy E. ; Maxson, Robert E. ; Wilkie, Andrew O. M. ; Crump, J. Gage ; Twigg, Stephen R. F.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-08, Vol.12 (1), p.4797-4797, Article 4797
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Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review
Author / Creator:Al-Namnam, Nisreen Mohammed ; Jayash, Soher Nagi ; Hariri, Firdaus ; Rahman, Zainal Ariff Abdul ; Alshawsh, Mohammed Abdullah
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2021-11, Vol.28 (10-11), p.620-633
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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-03, Vol.45 (3), p.304-307
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Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms
Author / Creator:Qin, Qian ; Xu, Young ; He, Tao ; Qin, Chunlin ; Xu, Jianming
Publisher:London: Nature Publishing Group UK
Journal title:Cell research, 2012-01, Vol.22 (1), p.90-106
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Author / Creator:Zhang, Jinglan ; Li, Jianli ; Saucier, Jennifer B. ; Feng, Yanming ; Jiang, Yanjun ; Sinson, Jefferson ; McCombs, Anne K. ; Schmitt, Eric S. ; Peacock, Sandra ; Chen, Stella ; Dai, Hongzheng ; Ge, Xiaoyan ; Wang, Guoli ; Shaw, Chad A. ; Mei, Hui ; Breman, Amy ; Xia, Fan ; Yang, Yaping ; Purgason, Anne ; Pourpak, Alan ; Chen, Zhao ; Wang, Xia ; Wang, Yue ; Kulkarni, Shashikant ; Choy, Kwong Wai ; Wapner, Ronald J. ; Van den Veyver, Ignatia B. ; Beaudet, Arthur ; Parmar, Sheetal ; Wong, Lee-Jun ; Eng, Christine M.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2019-03, Vol.25 (3), p.439-447
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ArticlesPeer ReviewedFull Text
Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome
Author / Creator:Kantaputra, Piranit N ; Angkurawaranon, Salita ; Khwanngern, Krit ; Ngamphiw, Chumpol ; Intachai, Worrachet ; Adisornkanj, Ploy ; Tongsima, Sissades ; Olsen, Bjorn ; Sonsuwan, Nuntigar ; Katanyuwong, Kamornwan
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-10, Vol.13 (10), p.1850
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Reference EntriesFull Text
Saethre-Chotzen Syndrome
Author / Creator:Sweet, Kevin
Journal title:The Gale Encyclopedia of Genetic Disorders: P-Z, 2016, p.1583-1586
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Apert syndrome: craniofacial challenges and clinical implications
Author / Creator:Singh, Niharika ; Verma, Promila ; Bains, Rhythm ; Mutalikdesai, Jagruti
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2024-07, Vol.17 (7), p.e260724
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A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality
Author / Creator:Wenger, Tara L. ; Hopper, Richard A. ; Rosen, Anna ; Tully, Hannah M. ; Cunningham, Michael L. ; Lee, Amy
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.471-476
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ArticlesPeer ReviewedFull Text
Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome
Author / Creator:Stauffer, Alexandra ; Farr, Sebastian
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2020-11, Vol.21 (1), p.788-788, Article 788
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ArticlesPeer ReviewedFull Text
New insights into genotype-phenotype correlation for GLI3 mutations
Author / Creator:Démurger, Florence ; Ichkou, Amale ; Mougou-Zerelli, Soumaya ; Le Merrer, Martine ; Goudefroye, Géraldine ; Delezoide, Anne-Lise ; Quélin, Chloé ; Manouvrier, Sylvie ; Baujat, Geneviève ; Fradin, Mélanie ; Pasquier, Laurent ; Megarbané, André ; Faivre, Laurence ; Baumann, Clarisse ; Nampoothiri, Sheela ; Roume, Joëlle ; Isidor, Bertrand ; Lacombe, Didier ; Delrue, Marie-Ange ; Mercier, Sandra ; Philip, Nicole ; Schaefer, Elise ; Holder, Muriel ; Krause, Amanda ; Laffargue, Fanny ; Sinico, Martine ; Amram, Daniel ; André, Gwenaelle ; Liquier, Alain ; Rossi, Massimiliano ; Amiel, Jeanne ; Giuliano, Fabienne ; Boute, Odile ; Dieux-Coeslier, Anne ; Jacquemont, Marie-Line ; Afenjar, Alexandra ; Van Maldergem, Lionel ; Lackmy-Port-Lis, Marylin ; Vincent-Delorme, Catherine ; Chauvet, Marie-Liesse ; Cormier-Daire, Valérie ; Devisme, Louise ; Geneviève, David ; Munnich, Arnold ; Viot, Géraldine ; Raoul, Odile ; Romana, Serge ; Gonzales, Marie ; Encha-Razavi, Ferechte ; Odent, Sylvie ; Vekemans, Michel ; Attie-Bitach, Tania
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.92-102
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ArticlesPeer ReviewedFull Text
Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome
Author / Creator:Teng, Camilla S ; Ting, Man-Chun ; Farmer, D'Juan T ; Brockop, Mia ; Maxson, Robert E ; Crump, J Gage
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2018-10, Vol.7
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ArticlesPeer ReviewedFull Text
Apert syndrome: an informative long-term dentofacial outcome
Author / Creator:Fowler, Peter ; Hallang, Shirleen ; Snape, Leslie
Publisher:England
Journal title:BMJ case reports, 2022-03, Vol.15 (3), p.e245224
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ArticlesPeer ReviewedFull Text
Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis
Author / Creator:Yokota, Masako ; Kobayashi, Yukiho ; Morita, Jumpei ; Suzuki, Hiroyuki ; Hashimoto, Yoshihide ; Sasaki, Yoshihiro ; Akiyoshi, Kazunari ; Moriyama, Keiji
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-07, Vol.9 (7), p.e101693
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ArticlesPeer ReviewedFull Text
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities
Author / Creator:Firulli, Beth A ; Krawchuk, Dayana ; Centonze, Victoria E ; Vargesson, Neil ; Virshup, David M ; Conway, Simon J ; Cserjesi, Peter ; Laufer, Ed ; Firulli, Anthony B
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-04, Vol.37 (4), p.373-381
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ArticlesPeer ReviewedFull Text
Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice
Author / Creator:Motch Perrine, Susan M ; Cole, 3rd, Theodore M ; Martínez-Abadías, Neus ; Aldridge, Kristina ; Jabs, Ethylin Wang ; Richtsmeier, Joan T
Publisher:England: BioMed Central Ltd
Journal title:BMC developmental biology, 2014-02, Vol.14 (1), p.8-8, Article 8
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ArticlesPeer ReviewedFull Text
A Germ-Line-Selective Advantage Rather than an Increased Mutation Rate Can Explain Some Unexpectedly Common Human Disease Mutations
Author / Creator:Choi, Soo-Kyung ; Yoon, Song-Ro ; Calabrese, Peter ; Arnheim, Norman
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (29), p.10143-10148
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ArticlesPeer ReviewedFull Text
Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome
Author / Creator:Pribadi, Clara ; Camp, Esther ; Cakouros, Dimitrios ; Anderson, Peter ; Glackin, Carlotta ; Gronthos, Stan
Publisher:England: BioMed Central Ltd
Journal title:Stem cell research & therapy, 2020-12, Vol.11 (1), p.529-529, Article 529
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Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature
Author / Creator:Porcaro, Federica ; Procaccini, Emidio ; Paglietti, Maria Giovanna ; Schiavino, Alessandra ; Petreschi, Francesca ; Cutrera, Renato
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2018-03, Vol.44 (1), p.42-42, Article 42
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Apert syndrome: prenatal diagnosis challenge
Author / Creator:Vieira, Catarina ; Teixeira, Neusa ; Cadilhe, Alexandra ; Reis, Isabel
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2019-12, Vol.12 (12), p.e231982
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Showing 1 to 20 of 255 results

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The developing mouse coronal suture at single-cell resolution

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Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms

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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

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Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

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Saethre-Chotzen Syndrome

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Apert syndrome: craniofacial challenges and clinical implications

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A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality

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Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

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New insights into genotype-phenotype correlation for GLI3 mutations

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Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome

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Apert syndrome: an informative long-term dentofacial outcome

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Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis

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Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities

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Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice

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A Germ-Line-Selective Advantage Rather than an Increased Mutation Rate Can Explain Some Unexpectedly Common Human Disease Mutations

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Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome

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Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature

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Apert syndrome: prenatal diagnosis challenge

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