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2010 2
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136 results

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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Sotos syndrome 1 and 2.
Sotos JF. Sotos JF. Pediatr Endocrinol Rev. 2014 Sep;12(1):2-16. Pediatr Endocrinol Rev. 2014. PMID: 25345081 Review.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT, Mankad K. Neeman B, et al. AJNR Am J Neuroradiol. 2024 Oct 3;45(10):1570-1577. doi: 10.3174/ajnr.A8364. AJNR Am J Neuroradiol. 2024. PMID: 39147584
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.
Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, Keogh MC, Bareke E, Djedid A, Harutyunyan AS, Jabado N, Garcia BA, Li H, Allis CD, Majewski J, Lu C. Weinberg DN, et al. Nature. 2019 Sep;573(7773):281-286. doi: 10.1038/s41586-019-1534-3. Epub 2019 Sep 4. Nature. 2019. PMID: 31485078 Free PMC article.
Sotos syndrome: A study of antenatal presentation.
Zhang YL, Jing XY, Chen GL, Zhen L, Li DZ. Zhang YL, et al. Eur J Obstet Gynecol Reprod Biol. 2022 Dec;279:1-4. doi: 10.1016/j.ejogrb.2022.10.006. Epub 2022 Oct 8. Eur J Obstet Gynecol Reprod Biol. 2022. PMID: 36228445
Somatic-gonadal mosaicism causing Sotos syndrome.
Kamien B, Dadd T, Buckman M, Ronan A, Dudding T, Meldrum C, Scott R, Mina K. Kamien B, et al. Am J Med Genet A. 2016 Dec;170(12):3360-3362. doi: 10.1002/ajmg.a.37867. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604501 No abstract available.
136 results