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Page 1
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: breugem cc. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G. Kievit A, et al. Among authors: breugem cc. Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18. Eur J Hum Genet. 2018. PMID: 29348693 Free PMC article.
Segmental facial hemangiomas and associated structural defects.
van Doesburg MH, Breugem CC, Breur JM, Braun KP, Speleman LA, Pasmans SG. van Doesburg MH, et al. Among authors: breugem cc. J Craniofac Surg. 2009 Jul;20(4):1224-7. doi: 10.1097/SCS.0b013e3181acde28. J Craniofac Surg. 2009. PMID: 19625839
Progress toward understanding vascular malformations.
Breugem CC, van Der Horst CM, Hennekam RC. Breugem CC, et al. Plast Reconstr Surg. 2001 May;107(6):1509-23. doi: 10.1097/00006534-200105000-00033. Plast Reconstr Surg. 2001. PMID: 11335828 Review. No abstract available.
Are capillary malformations neurovenular or purely neural?
Breugem CC, Hennekam RC, van Gemert MJ, van der Horst CM. Breugem CC, et al. Plast Reconstr Surg. 2005 Feb;115(2):578-87. doi: 10.1097/01.prs.0000150150.69479.70. Plast Reconstr Surg. 2005. PMID: 15692368 Review. No abstract available.
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Basart H, Paes EC, Maas SM, van den Boogaard MJ, van Hagen JM, Breugem CC, Cobben JM, Don Griot JP, Lachmeijer AM, Lichtenbelt KD, van Nunen DP, van der Horst CM, Hennekam RC. Basart H, et al. Among authors: breugem cc. Am J Med Genet A. 2015 Sep;167A(9):1983-92. doi: 10.1002/ajmg.a.37154. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033782
Health-related quality of life in children with Robin sequence.
Basart H, van Oers HA, Paes EC, Breugem CC, Don Griot JP, van der Horst CM, Haverman L, Hennekam RC. Basart H, et al. Among authors: breugem cc. Am J Med Genet A. 2017 Jan;173(1):54-61. doi: 10.1002/ajmg.a.37968. Epub 2016 Sep 20. Am J Med Genet A. 2017. PMID: 27649059
175 results