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Page 1
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: moerman p. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.
Prenatal diagnosis of MPPH syndrome.
De Keersmaecker B, Van Esch H, Van Schoubroeck D, Claus F, Moerman P, De Catte L. De Keersmaecker B, et al. Among authors: moerman p. Prenat Diagn. 2013 Mar;33(3):292-5. doi: 10.1002/pd.4039. Epub 2013 Jan 24. Prenat Diagn. 2013. PMID: 23348821
Partial duplications of the ATRX gene cause the ATR-X syndrome.
Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: moerman p. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672
Apparently new "anophthalmia-plus" syndrome in sibs.
Fryns JP, Legius E, Moerman P, Vandenberghe K, Van den Berghe H. Fryns JP, et al. Among authors: moerman p. Am J Med Genet. 1995 Aug 28;58(2):113-4. doi: 10.1002/ajmg.1320580204. Am J Med Genet. 1995. PMID: 8533799
Pathogenesis of the lethal multiple pterygium syndrome.
Moerman P, Fryns JP, Cornelis A, Bergmans G, Vandenberghe K, Lauweryns JM. Moerman P, et al. Am J Med Genet. 1990 Mar;35(3):415-21. doi: 10.1002/ajmg.1320350319. Am J Med Genet. 1990. PMID: 2309791
Chromosome 22q11 deletion presenting as the Potter sequence.
Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. Devriendt K, et al. Among authors: moerman p. J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423. J Med Genet. 1997. PMID: 9152843 Free PMC article.
349 results