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2011 12
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105 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.
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
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.
Seizures in Sotos syndrome: Phenotyping in 49 patients.
Fortin O, Vincelette C, Khan AQ, Berrahmoune S, Dassi C, Karimi M, Scheffer IE, Lu J, Davis K, Myers KA. Fortin O, et al. Epilepsia Open. 2021 Jun;6(2):425-430. doi: 10.1002/epi4.12484. Epub 2021 Apr 9. Epilepsia Open. 2021. PMID: 34033256 Free PMC article.
105 results