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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.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 10, 2015
A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesisInge-Lore Ruiz-Arana, Angela Hübner, Cigdem Cetingdag, 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.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 4, 2024
Efficacy and safety of GH treatment in Japanese children with short stature due to <i>SHOX</i> deficiency: a randomized phase 3 studyTsutomu Ogata, Maki Fukami, Kazunori Tanizawa, et al.Journal of Human Genetics|April 29, 2016
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Shinichiro Sano, Keiko Matsubara, Keisuke Nagasaki, et al.American Journal of Medical Genetics. Part A|April 25, 2012
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapulaMaki Fukami, Takayoshi Tsuchiya, Shuji Takada, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndromeMasayo Kagami, Keiko Matsubara, Kazuhiko Nakabayashi, et al.Journal of Human Genetics|June 9, 2017
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndromeSumito Dateki, Masayo Kagami, Keiko Matsubara, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 22, 2020
Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case reportNoboru Uchida, Takuma Ohnishi, Takuro Kojima, et al.Journal of Medical Genetics|February 19, 2018
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowthAkie Nakamura, Koji Muroya, Hiroko Ogata-Kawata, et al.Pageof 32