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Ocular manifestations of Noonan syndrome.
Ophthalmic Genet. 2012 Mar;33(1):1-5. doi: 10.3109/13816810.2011.593606. Epub 2011 Aug 4.
Ophthalmic Genet. 2012.
PMID: 21815719
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
Aoi H, et al.
J Hum Genet. 2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z. Epub 2019 Jul 23.
J Hum Genet. 2019.
PMID: 31337854
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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM.
Bonaldi A, et al. Among authors: furquim im.
Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9.
Am J Med Genet A. 2011.
PMID: 21910219
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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
Seyama R, et al.
Genomics. 2022 Sep;114(5):110468. doi: 10.1016/j.ygeno.2022.110468. Epub 2022 Aug 27.
Genomics. 2022.
PMID: 36041635
Free article.
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Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.
Bertola DR, Antequera R, Rodovalho MJ, Honjo RS, Albano LM, Furquim IM, Oliveira LA, Kim CA.
Bertola DR, et al. Among authors: furquim im.
Am J Med Genet A. 2009 Mar;149A(3):532-4. doi: 10.1002/ajmg.a.32661.
Am J Med Genet A. 2009.
PMID: 19213025
No abstract available.
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Proteus syndrome: report of a case with recurrent abdominal lipomatosis.
Furquim I, Honjo R, Bae R, Andrade W, Santos M, Tannuri U, Kim C.
Furquim I, et al.
J Pediatr Surg. 2009 Apr;44(4):E1-3. doi: 10.1016/j.jpedsurg.2008.12.016.
J Pediatr Surg. 2009.
PMID: 19361616
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