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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
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
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
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Journal Article
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Journal Article
Quantification of Head Shape from Three-Dimensional Photography for Presurgical and Postsurgical Evaluation of Craniosynostosis
Porras, Antonio R, Tu, Liyun, Tsering, Deki, Mantilla, Esperanza, Oh, Albert, Enquobahrie, Andinet, Keating, Robert, Rogers, Gary F, Linguraru, Marius George
Published in Plastic and reconstructive surgery (1963) (01.12.2019)
Published in Plastic and reconstructive surgery (1963) (01.12.2019)
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Journal Article
Complex craniosynostoses: a review of the prominent clinical features and the related management strategies
Tamburrini, G., Caldarelli, M., Massimi, L., Gasparini, G., Pelo, S., Di Rocco, C.
Published in Child's nervous system (01.09.2012)
Published in Child's nervous system (01.09.2012)
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Journal Article
Quantifying the Severity of Metopic Craniosynostosis Using Unsupervised Machine Learning
Anstadt, Erin E, Tao, Wenzheng, Guo, Ejay, Dvoracek, Lucas, Bruce, Madeleine K, Grosse, Philip J, Wang, Li, Kavan, Ladislav, Whitaker, Ross, Goldstein, Jesse A
Published in Plastic and reconstructive surgery (1963) (01.02.2023)
Published in Plastic and reconstructive surgery (1963) (01.02.2023)
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Journal Article
Craniosynostosis in the Middle Pleistocene human Cranium 14 from the Sima de los Huesos, Atapuerca, Spain
Gracia, Ana, Arsuaga, Juan Luis, Martínez, Ignacio, Lorenzo, Carlos, Carretero, José Miguel, Bermúdez de Castro, José María, Carbonell, Eudald
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2009)
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Journal Article
Three-Dimensional Assessment of Frontal Bossing and Temporal Pinching in Patients with Sagittal Craniosynostosis Using Curvature Analysis
Harrison, Lucas M, Mathew, Denzil P, Cole, Naomi A, Sachdeva, Sanchit, Hallac, Rami R, Derderian, Christopher A
Published in Plastic and reconstructive surgery (1963) (01.09.2023)
Published in Plastic and reconstructive surgery (1963) (01.09.2023)
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Journal Article
The Whitaker Classification of Craniosynostosis Outcomes: An Assessment of Interrater Reliability
Wes, Ari M, Naran, Sanjay, Sun, James, Mazzaferro, Daniel, Xu, Wen, Nguyen, Phuong, Whitaker, Linton A, Bartlett, Scott P, Taylor, Jesse A
Published in Plastic and reconstructive surgery (1963) (01.10.2017)
Published in Plastic and reconstructive surgery (1963) (01.10.2017)
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Journal Article
Intracranial Pressure Patterns in Children with Sagittal Craniosynostosis
Kalmar, Christopher L, Malphrus, Elizabeth L, Blum, Jessica D, Kosyk, Mychajlo S, Zapatero, Zachary D, Heuer, Gregory G, Bartlett, Scott P, Taylor, Jesse A, Lang, Shih-Shan, Swanson, Jordan W
Published in Plastic and reconstructive surgery (1963) (01.07.2024)
Published in Plastic and reconstructive surgery (1963) (01.07.2024)
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Journal Article
Cranial Shape Changes in Nonsyndromic Unilateral Lambdoid Synostosis after Open Posterior Vault Remodeling
Nguyen, Andy N, Purnell, Chad A, Mercan, Ezgi, Lee, Amy, Birgfeld, Craig B, Susarla, Srinivas M, Ellenbogen, Richard G, Hopper, Richard A
Published in Plastic and reconstructive surgery (1963) (01.07.2023)
Published in Plastic and reconstructive surgery (1963) (01.07.2023)
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Journal Article
Elevated Intracranial Pressure in Patients with Craniosynostosis by Optical Coherence Tomography
Kalmar, Christopher L, Humphries, Laura S, McGeehan, Brendan, Ying, Gui-Shuang, Heuer, Gregory G, Liu, Grant T, Avery, Robert A, Bartlett, Scott P, Taylor, Jesse A, Lang, Shih-Shan, Swanson, Jordan W
Published in Plastic and reconstructive surgery (1963) (01.03.2022)
Published in Plastic and reconstructive surgery (1963) (01.03.2022)
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Journal Article
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, Tartaglia, Marco
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Prospective Evaluation of Health-Related Quality-of-Life in Children with Craniosynostosis
Gamarra, Valeria, Pearson, Gregory D, Drapeau, Annie, Pindrik, Jonathan, Crerand, Canice E, Rabkin, Ari N, Khansa, Ibrahim
Published in The Cleft palate-craniofacial journal (01.06.2025)
Published in The Cleft palate-craniofacial journal (01.06.2025)
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Journal Article
Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls: An Arterial Spin Labeling Study
de Planque, Catherine A, Petr, Jan, Gaillard, Linda, Mutsaerts, Henk J M M, van Veelen, Marie-Lise C, Versnel, Sarah L, Dremmen, Marjolein H G, Mathijssen, Irene M J
Published in Plastic and reconstructive surgery (1963) (01.04.2022)
Published in Plastic and reconstructive surgery (1963) (01.04.2022)
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Journal Article
Personalized assessment of craniosynostosis via statistical shape modeling
Mendoza, Carlos S., Safdar, Nabile, Okada, Kazunori, Myers, Emmarie, Rogers, Gary F., Linguraru, Marius George
Published in Medical image analysis (01.05.2014)
Published in Medical image analysis (01.05.2014)
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Journal Article