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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.
[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.
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.
49 results