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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.
Am J Hum Genet. 2019.
PMID: 30982609
Free PMC article.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR.
Ceroni JR, et al.
Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19.
Genet Mol Biol. 2018.
PMID: 29473937
Free PMC article.
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Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.
Romanelli Tavares VL, Kague E, Musso CM, Alegria TGP, Freitas RS, Bertola DR, Twigg SRF, Passos-Bueno MR.
Romanelli Tavares VL, et al.
Mol Syndromol. 2019 Feb;10(1-2):40-47. doi: 10.1159/000490635. Epub 2018 Jul 3.
Mol Syndromol. 2019.
PMID: 30976278
Free PMC article.
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Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
Hatagami Marques J, Lopes Yamamoto G, de Cássia Testai L, da Costa Pereira A, Kim CA, Passos-Bueno MR, Romeo Bertola D.
Hatagami Marques J, et al.
Mol Syndromol. 2015 Jul;6(2):87-90. doi: 10.1159/000407418. Epub 2015 May 27.
Mol Syndromol. 2015.
PMID: 26279654
Free PMC article.
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J.
Vegas N, et al.
Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7.
Hum Mutat. 2022.
PMID: 35170830
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