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Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis.
Bourgon N, Lefebvre M, Kuentz P, Thevenon J, Jouan T, Duffourd Y, Philippe C, Tran Mau-Them F, Durand C, Harizay F, Laurent N, Rousseau T, Faivre L, Thauvin-Robinet C. Bourgon N, et al. Among authors: durand c. Prenat Diagn. 2019 Aug;39(9):806-810. doi: 10.1002/pd.5424. Epub 2019 Feb 20. Prenat Diagn. 2019. PMID: 30681164 No abstract available.
Prenatal diagnosis of Juberg-Hayward syndrome.
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Among authors: durand c. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337
Prenatal diagnosis of enteric duplication cyst of the tongue.
Rousseau T, Couvreur S, Senet-Lacombe E, Durand C, Justrabo E, Malka G, Sagot P. Rousseau T, et al. Among authors: durand c. Prenat Diagn. 2004 Feb;24(2):98-100. doi: 10.1002/pd.748. Prenat Diagn. 2004. PMID: 14974114
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C. El Chehadeh-Djebbar S, et al. Among authors: durand c. Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21397059
741 results