TY - JOUR AU - Lattanzi, W. AU - Barba, M. AU - Pietro, L. AU - Boyadjiev, S. A. PY - 2017 DA - 2017// TI - Genetic advances in craniosynostosis JO - Am J Med Genet A VL - 173 UR - https://doi.org/10.1002/ajmg.a.38159 DO - 10.1002/ajmg.a.38159 ID - Lattanzi2017 ER - TY - JOUR AU - Neuhauser, G. AU - Kaveggia, E. G. AU - Opitz, J. M. PY - 1976 DA - 1976// TI - Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis" JO - Eur J Pediatr VL - 123 UR - https://doi.org/10.1007/BF00497676 DO - 10.1007/BF00497676 ID - Neuhauser1976 ER - TY - JOUR AU - Moore, M. H. AU - Abbott, A. H. AU - Netherway, D. J. AU - Menard, R. AU - Hanieh, A. PY - 1998 DA - 1998// TI - Bilambdoid and posterior sagittal synostosis: the Mercedes Benz syndrome JO - J Craniofac Surg VL - 9 UR - https://doi.org/10.1097/00001665-199809000-00003 DO - 10.1097/00001665-199809000-00003 ID - Moore1998 ER - TY - JOUR AU - Hing, A. V. AU - Click, E. S. AU - Holder, U. AU - Seto, M. L. AU - Vessey, K. AU - Gruss, J. PY - 2009 DA - 2009// TI - Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? JO - Am J Med Genet A VL - 149A UR - https://doi.org/10.1002/ajmg.a.32782 DO - 10.1002/ajmg.a.32782 ID - Hing2009 ER - TY - JOUR AU - Rhodes, J. L. AU - Kolar, J. C. AU - Fearon, J. A. PY - 2010 DA - 2010// TI - Mercedes Benz pattern craniosynostosis JO - Plast Reconstr Surg VL - 125 UR - https://doi.org/10.1097/PRS.0b013e3181c2a6aa DO - 10.1097/PRS.0b013e3181c2a6aa ID - Rhodes2010 ER - TY - JOUR AU - Shiihara, T. AU - Kato, M. AU - Kimura, T. AU - Hayasaka, K. AU - Yamamori, S. AU - Ogata, T. PY - 2004 DA - 2004// TI - Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy JO - Am J Med Genet A VL - 128A UR - https://doi.org/10.1002/ajmg.a.20552 DO - 10.1002/ajmg.a.20552 ID - Shiihara2004 ER - TY - JOUR AU - Tagariello, A. AU - Heller, R. AU - Greven, A. AU - Kalscheuer, V. M. AU - Molter, T. AU - Rauch, A. PY - 2006 DA - 2006// TI - Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region JO - J Med Genet VL - 43 UR - https://doi.org/10.1136/jmg.2005.037820 DO - 10.1136/jmg.2005.037820 ID - Tagariello2006 ER - TY - JOUR AU - Cohen, M. M. PY - 2000 DA - 2000// TI - Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2 JO - J Craniofac Genet Dev Biol VL - 20 ID - Cohen2000 ER - TY - JOUR AU - Twigg, S. R. AU - Vorgia, E. AU - McGowan, S. J. AU - Peraki, I. AU - Fenwick, A. L. AU - Sharma, V. P. PY - 2013 DA - 2013// TI - Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis JO - Nat Genet VL - 45 UR - https://doi.org/10.1038/ng.2539 DO - 10.1038/ng.2539 ID - Twigg2013 ER - TY - JOUR AU - Chaudhry, A. AU - Sabatini, P. AU - Han, L. AU - Ray, P. N. AU - Forrest, C. AU - Bowdin, S. PY - 2015 DA - 2015// TI - Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement JO - Am J Med Genet A VL - 167A UR - https://doi.org/10.1002/ajmg.a.37218 DO - 10.1002/ajmg.a.37218 ID - Chaudhry2015 ER - TY - JOUR AU - Balasubramanian, M. AU - Lord, H. AU - Levesque, S. AU - Guturu, H. AU - Thuriot, F. AU - Sillon, G. PY - 2017 DA - 2017// TI - Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene JO - J Med Genet VL - 54 UR - https://doi.org/10.1136/jmedgenet-2016-104143 DO - 10.1136/jmedgenet-2016-104143 ID - Balasubramanian2017 ER - TY - JOUR AU - Glass, G. E. AU - O'Hara, J. AU - Canham, N. AU - Cilliers, D. AU - Dunaway, D. AU - Fenwick, A. L. PY - 2019 DA - 2019// TI - ERF-related craniosynostosis: the phenotypic and developmental profile of a new craniosynostosis syndrome JO - Am J Med Genet A VL - 179 UR - https://doi.org/10.1002/ajmg.a.61073 DO - 10.1002/ajmg.a.61073 ID - Glass2019 ER - TY - JOUR AU - Gudmundsson, S. AU - Anneren, G. AU - Marcos-Alcalde, I. AU - Wilbe, M. AU - Melin, M. AU - Gomez-Puertas, P. PY - 2018 DA - 2018// TI - A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature JO - Eur J Med Genet VL - 62 UR - https://doi.org/10.1016/j.ejmg.2018.08.007 DO - 10.1016/j.ejmg.2018.08.007 ID - Gudmundsson2018 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Arnaud, E. AU - Capon-Degardin, N. AU - Michienzi, J. AU - Rocco, F. AU - Renier, D. PY - 2009 DA - 2009// TI - Scaphocephaly part II: secondary coronal synostosis after scaphocephalic surgical correction JO - J Craniofac Surg VL - 20 UR - https://doi.org/10.1097/SCS.0b013e3181b6c4c3 DO - 10.1097/SCS.0b013e3181b6c4c3 ID - Arnaud2009 ER - TY - JOUR AU - Veelen, M. L. AU - Eelkman Rooda, O. H. AU - Jong, T. AU - Dammers, R. AU - Adrichem, L. N. AU - Mathijssen, I. M. PY - 2013 DA - 2013// TI - Results of early surgery for sagittal suture synostosis: long-term follow-up and the occurrence of raised intracranial pressure JO - Childs Nerv Syst VL - 29 UR - https://doi.org/10.1007/s00381-013-2024-9 DO - 10.1007/s00381-013-2024-9 ID - Veelen2013 ER -