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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L. Melo US, et al. Among authors: arbez gindre f. Hum Genet. 2021 Oct;140(10):1459-1469. doi: 10.1007/s00439-021-02344-6. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34436670 Free PMC article.
Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis.
Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, Alanio E, Favre R, Gaillard D, Riethmuller D. Ramanah R, et al. Ultrasound Obstet Gynecol. 2012 Dec;40(6):724-5. doi: 10.1002/uog.11146. Epub 2012 Nov 15. Ultrasound Obstet Gynecol. 2012. PMID: 22374821 Free article. No abstract available.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Lefebvre M, et al. Among authors: arbez gindre f. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732226
[A new prenatal diagnosis case of frontonasal dysplasia].
Guigue V, Martin A, Mangin M, Arbez-Gindre F, Labenne E, Olivier-Faivre L, Ramanah R, Riethmuller D. Guigue V, et al. J Gynecol Obstet Biol Reprod (Paris). 2011 Sep;40(5):476-80. doi: 10.1016/j.jgyn.2011.01.017. Epub 2011 Mar 8. J Gynecol Obstet Biol Reprod (Paris). 2011. PMID: 21388753 Free article. French.
[The case of an acardiac headless twin, review of the literature].
Guigue V, Schwetterle F, Arbez-Gindre F. Guigue V, et al. J Gynecol Obstet Biol Reprod (Paris). 2007 May;36(3):293-7. doi: 10.1016/j.jgyn.2007.02.004. Epub 2007 Mar 23. J Gynecol Obstet Biol Reprod (Paris). 2007. PMID: 17363192 Free article. French.
52 results