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Clinical Case Reports|June 25, 2020
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencingKaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, et al.Scientific Reports|December 31, 2024
An unstable variant of GAP43 leads to neurodevelopmental deficiencyMariko Noda, Ayumi Matsumoto, Hidenori Ito, et al.Cytogenetic and Genome Research|January 11, 2018
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1aErina Suzuki, Ryosuke Bo, Kaori Sue, et al.Human Mutation|May 11, 2017
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactylyKaori Yamoto, Hirotomo Saitsu, Norio Nakagawa, et al.Clinical Epigenetics|March 17, 2026
A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regionsTatsuki Urakawa, Haipeng Huang, Takuhito Nagai, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 25, 2019
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylationMasanori Adachi, Maki Fukami, Masayo Kagami, et al.Endocrine Journal|September 4, 2020
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature reviewYohei Masunaga, Yasuko Fujisawa, Mayumi Muramatsu, et al.Journal of Human Genetics|October 17, 2020
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Jessica Omark, Yohei Masunaga, Mark Hannibal, et al.Human Genome Variation|September 13, 2022
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndromeAtsushi Hattori, Torayuki Okuyama, Tetsumin So, et al.American Journal of Medical Genetics. Part A|September 10, 2005
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical featuresMasayo Kagami, Gen Nishimura, Torayuki Okuyama, et al.Pageof 11