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Nonsyndromic Craniosynostosis: Novel Coding Variants

CITE Title : Nonsyndromic Craniosynostosis: Novel Coding Variants Personal Author(s) : Sewda, Anshuman;White, Sierra R.;Erazo, Monica;Hao, Ke;García-Fructuoso, Gemma;Fernández-Rodriguez, Ivette;Heuzé, Yann;Richtsmeier, Joan T.;Romitti, Paul A.;Reva, Boris;Jabs, Ethylin Wang;Peter, Inga; Published Date : January 14 2019 Source : Pediatr Res. 85(4):463-468 URL : https://stacks.cdc.gov/view/cdc/76296 Sewda, Anshuman et al. (2019). Nonsyndromic Craniosynostosis: Novel Coding Variants. 85(4). Sewda, Anshuman et al. "Nonsyndromic Craniosynostosis: Novel Coding Variants" 85, no. 4 (2019) Sewda, Anshuman et al. "Nonsyndromic Craniosynostosis: Novel Coding Variants" vol. 85, no. 4, 2019 Export RIS Citation Information.

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Sewda, Anshuman ;

White, Sierra R.

January 14 2019 | Pediatr Res. 85(4):463-468

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BackgroundCraniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, ab...
Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes

CITE Title : Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes Personal Author(s) : Heuzé, Yann;Martínez-Abadías, Neus;Stella, Jennifer M.;Arnaud, Eric;Collet, Corinne;Fructuoso, Gemma García;Alamar, Mariana;Lo, Lun-Jou;Boyadjiev, Simeon A.;Di Rocco, Federico;Richtsmeier, Joan T.; Published Date : Feb 27 2014 Source : Birth Defects Res A Clin Mol Teratol. 2014; 100(4):250-259. URL : https://stacks.cdc.gov/view/cdc/29963 Heuzé, Yann et al. (2014). Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes. 100(4). Heuzé, Yann et al. "Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes" 100, no. 4 (2014) Heuzé, Yann et al. "Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes" vol. 100, no. 4, 2014 Export RIS Citation Information.

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Heuzé, Yann ;

Martínez-Abadías, Neus

Feb 27 2014 | Birth Defects Res A Clin Mol Teratol. 2014; 100(4):250-259.

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Backgroundfibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and...
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

CITE Title : Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis Personal Author(s) : Ye, Xiaoqian;Guilmatre, Audrey;Reva, Boris;Peter, Inga;Heuzé, Yann;Richtsmeier, Joan T.;Fox, Deborah J.;Goedken, Rhinda J.;Jabs, Ethylin W;Romitti, Paul A.; Published Date : Mar 2016 Source : Plast Reconstr Surg. 137(3):952-961. URL : https://stacks.cdc.gov/view/cdc/38314 Ye, Xiaoqian et al. (2016). Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. 137(3). Ye, Xiaoqian et al. "Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis" 137, no. 3 (2016) Ye, Xiaoqian et al. "Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis" vol. 137, no. 3, 2016 Export RIS Citation Information.

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Ye, Xiaoqian ;

Guilmatre, Audrey

Mar 2016 | Plast Reconstr Surg. 137(3):952-961.

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BackgroundCraniosynostosis is a condition that includes the premature fusion of one or multiple cranial sutures. Among various craniosynostosis forms,...
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

CITE Title : Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits Personal Author(s) : Nicoletti, Paola;Zafer, Samreen;Matok, Lital;Irron, Inbar;Patrick, Meidva;Haklai, Rotem;Evangelista, John Erol;Marino, Giacomo B.;Ma’ayan, Avi;Sewda, Anshuman;Holmes, Greg;Britton, Sierra R.;Lee, Won Jun;Wu, Meng;Ru, Ying;Arnaud, Eric;Botto, Lorenzo;Brody, Lawrence C.;Byren, Jo C.;Caggana, Michele;Carmichael, Suzan L.;Cilliers, Deirdre;Conway, Kristin;Crawford, Karen;Cuellar, Araceli;Di Rocco, Federico;Engel, Michael;Fearon, Jeffrey;Feldkamp, Marcia L.;Finnell, Richard;Fisher, Sarah;Freudlsperger, Christian;Garcia-Fructuoso, Gemma;Hagge, Rhinda;Heuzé, Yann;Harshbarger, Raymond J.;Hobbs, Charlotte;Howley, Meredith;Jenkins, Mary M.;Johnson, David;Justice, Cristina M.;Kane, Alex;Kay, Denise;Gosain, Arun Kumar;Langlois, Peter;Legal-Mallet, Laurence;Lin, Angela E.;Mills, James L.;Morton, Jenny E.V.;Noons, Peter;Olshan, Andrew;Persing, John;Phipps, Julie M.;Redett, Richard;Reefhuis, Jennita;Rizk, Elias;Samson, Thomas D.;Shaw, Gary M.;Sicko, Robert;Smith, Nataliya;Staffenberg, David;Stoler, Joan;Sweeney, Elizabeth;Taub, Peter J.;Timberlake, Andrew T.;Topczewska, Jolanta;Wall, Steven A.;Wilson, Alexander F.;Wilson, Louise C.;Boyadjiev, Simeon A.;Wilkie, Andrew O.M.;Richtsmeier, Joan T.;Jabs, Ethylin Wang;Romitti, Paul A.;Karasik, David;Birnbaum, Ramon Y.;Peter, Inga; Published Date : 5 17 2024;2024; Source : Genet Med Open. 2 URL : https://stacks.cdc.gov/view/cdc/164626 Nicoletti, Paola et al. (2024). Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. 2 Nicoletti, Paola et al. "Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits" 2 (2024) Nicoletti, Paola et al. "Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits" vol. 2, 2024 Export RIS Citation Information.

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Nicoletti, Paola ;

Zafer, Samreen

5 17 2024 | Genet Med Open. 2

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Purpose:The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal ...