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Page 1
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG. Jacquinet A, et al. Am J Med Genet A. 2010 Sep;152A(9):2322-6. doi: 10.1002/ajmg.a.33574. Am J Med Genet A. 2010. PMID: 20683999
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Among authors: jacquinet a. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. Izumi K, et al. Among authors: jacquinet a. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476655 Free PMC article.
Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Jacquinet A, Bonnard A, Capri Y, Martin D, Sadzot B, Bianchi E, Servais L, Sacré JP, Cavé H, Verloes A. Jacquinet A, et al. Eur J Med Genet. 2020 Jan;63(1):103617. doi: 10.1016/j.ejmg.2019.01.007. Epub 2019 Jan 19. Eur J Med Genet. 2020. PMID: 30664951 Free article.
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Among authors: jacquinet a. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420144
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A. Rive Le Gouard N, et al. Among authors: jacquinet a. Clin Genet. 2021 Apr;99(4):519-528. doi: 10.1111/cge.13906. Epub 2021 Jan 5. Clin Genet. 2021. PMID: 33368193
16 results