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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
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
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
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
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
Vaulting further: cranial vault expansion for craniocerebral disproportion without primary craniosynostosis
Ng, Jinggang J., Saikali, Linda M., Zapatero, Zachary D., Massenburg, Benjamin B., Wu, Meagan, Romeo, Dominic J., Heuer, Gregory G., Bartlett, Scott P., Taylor, Jesse A., Swanson, Jordan W., Lang, Shih-Shan
Published in Child's nervous system (01.12.2024)
Published in Child's nervous system (01.12.2024)
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Journal Article
Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study
Rufai, Sohaib R., Thomas, Mervyn G., Marmoy, Oliver R., Panteli, Vasiliki, Thompson, Dorothy A., Bunce, Catey, Henderson, Robert H., Gore, Sri, James, Greg, Gottlob, Irene, Dunaway, David J., Hayward, Richard, Proudlock, Frank A., Jeelani, Noor ul Owase, Bowman, Richard
Published in American journal of ophthalmology (01.01.2025)
Published in American journal of ophthalmology (01.01.2025)
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Journal Article
Long-term outcomes of nonsyndromic isolated unilateral lambdoid craniosynostosis
Ng, Jinggang J., Chang, Ashley E., Massenburg, Benjamin B., Romeo, Dominic J., Wu, Meagan, Blum, Jessica D., Swanson, Jordan W., Taylor, Jesse A., Bartlett, Scott P.
Published in Journal of cranio-maxillo-facial surgery (01.11.2024)
Published in Journal of cranio-maxillo-facial surgery (01.11.2024)
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Journal Article
Statistical shape modelling for the analysis of head shape variations
Heutinck, Pam, Knoops, Paul, Florez, Naiara Rodriguez, Biffi, Benedetta, Breakey, William, James, Greg, Koudstaal, Maarten, Schievano, Silvia, Dunaway, David, Jeelani, Owase, Borghi, Alessandro
Published in Journal of cranio-maxillo-facial surgery (01.06.2021)
Published in Journal of cranio-maxillo-facial surgery (01.06.2021)
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Journal Article
Growth curves for intracranial volume in normal Asian children fortify management of craniosynostosis
Kamochi, Hideaki, Sunaga, Ataru, Chi, Daekwan, Asahi, Rintaro, Nakagawa, Shiho, Mori, Masanori, Uda, Hirokazu, Sarukawa, Shunji, Sugawara, Yasushi, Yoshimura, Kotaro
Published in Journal of cranio-maxillo-facial surgery (01.11.2017)
Published in Journal of cranio-maxillo-facial surgery (01.11.2017)
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Journal Article
Free-floating bone flap posterior cranial vault release in syndromic craniosynostosis
Liang, Qin-Chuan, Kang, Xu, Gao, Ping-Ping, Xia, Ze-Yang, Sun, Yong, Bao, Nan
Published in Journal of cranio-maxillo-facial surgery (01.02.2025)
Published in Journal of cranio-maxillo-facial surgery (01.02.2025)
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Journal Article
The effect of Le Fort III procedure in the treatment of obstructive sleep apnea in children with syndromic craniosynostosis
Chang, Yuan, Zhang, Wei, Li, Mengjie, Gao, Yinghui, Feng, Junjun, Yu, Yongbo, Han, Fang
Published in Journal of clinical sleep medicine (01.08.2024)
Published in Journal of clinical sleep medicine (01.08.2024)
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Journal Article
The metopic-sagittal craniosynostosis—report of 35 operative cases
Shimoji, Takeyoshi, Kimura, Takaoki, Shimoji, Kazuaki, Miyajima, Masakazu
Published in Child's nervous system (01.08.2017)
Published in Child's nervous system (01.08.2017)
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Journal Article
A critical eye on metopic craniosynostosis: A retrospective study assessing orbital dysmorphology as a marker of disease
Barrero, Carlos E., Pontell, Matthew E., Naidu, Kirin, Wagner, Connor S., Salinero, Lauren K., Swanson, Jordan W., Taylor, Jesse A., Bartlett, Scott P.
Published in Journal of cranio-maxillo-facial surgery (01.07.2024)
Published in Journal of cranio-maxillo-facial surgery (01.07.2024)
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Journal Article