研究成果（深見真紀）| 新学術領域研究「性スペクトラム」

202

Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M.

"Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR."

Eur J Med Genet 2023 66: 104671.

201

Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, Hasegawa T, Fukami M, Narumi S.

"POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads dwarfism."

Endocrinology 2022 164: bqac198.

200

Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T.

"Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)."

Sci Rep 2022 12: 17079.

199

Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y.

"Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome."

Hum Genome Var 2022 9: 32.

198

Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akustu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M.

"Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus."

J Bone Miner Res 2022 37: 1850–1859.

197

Naiki Y, Miyado M, Shido M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M.

"AAV-mediated gene therapy for patients’ fibroblasts, iPS cells, and a mouse model of congenital adrenal hyperplasia."

Hum Gene Ther 2022 33: 801–809.

196

Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M.

"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR."

J Med Genet 2022 59: 1241–1246.

195

Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.

"Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders."

J Clin Endocrinol Metab 2022 107: e3121–e3133.

194

Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker E, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K.

"Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency."

Hum Mol Genet 2022 31: 2223–2235.

193

Fukami M.

"11-Oxyandrogens from the viewpoint of pediatric endocrinology."

Clin Pediart Endocrinol 2022 31: 110–115.

192

Narusawa H, Sasaki S, Hara-Isono K, Matsubara K, Fukami M, Nagasaki K, Kagami M.

"A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR."

Eur J Med Genet 2022 65: 104502.

191

Shindo M, Miyado K, Kang W, Fukami M, Miyado M.

"Efficient superovulation and egg collection from mice."

Bio Protoc 2022 12: e4439.

190

Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.

"Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system."

J Hum Genet 2022 67: 607–611.

189

Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T.

"The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration."

Congenit Anom (Kyoto) 2022 62: 136–137.

188

Tamaoka S, Fukuda A, Katoh-Fukui Y, Hattori A, Uchida H, Shimizu S, Yanagi Y, Kanaan SB, Sakamoto S, Kasahara M, Yoshioka T, Fukami M.

"Quantification of maternal microchimeric cells in the liver of children with biliary atresia."

J Pediatr Gastroenterol Nutr 2022 74: e83–e86.

187

Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M, Ogata T.

"Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse."

J Endocr Soc 2022 6: bvac022.

186

Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T.

"SHOX far-downstream deletion in a patient with non-syndromic short stature."

Am J Med Genet 2022 188: 2173–2177.

185

Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T.

"ACAN biallelic variants in a girl with severe idiopathic short stature."

J Hum Genet 2022 67: 481–486.

184

Fukami M, Miyado M.

"Mosaic loss of the Y chromosome and men’s health."

Reprod Med Biol 2022 21: e12445.

183

Okamoto M, Hamada J, Ochi F, Fukami M, Eguchi M.

"Short stature in a child with a novel Aggrecan gene variant: A case report."

Pediatr Int 2022 64: e15116.

182

Fukami M, Ogata T.

"Congenital disorders of estrogen biosynthesis and action."

Best Pract Res Clin Endocrinol Metab 2022 36: 101580.

181

Ogiwara Y, Miyado M, Suzuki E, Niida S, Ozaki K, Fukami M.

"Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification."

J Hum Genet 2021 66: 1181–1184.

180

Miyado M, Fukami M, Ogata T.

"MAMLD1 and differences/disorders of sex development: an update."

Sex Dev 2022 16: 126–137.

179

Igarashi M, Ayabe T, Yamamoto-Hanada K, Matsubara K, Sasaki H, Saito-Abe M, Sato M, Mise N, Ikegami A, Shimono M, Suga R, Ohga S, Sanefuji M, Oda M, Mitsubuchi H, Michikawa T, Yamazaki S, Nakayama S, Ohya Y, Fukami M.

"Female-dominant estrogen production in healthy children before adrenarche."

Endocr Connect 2021 10: 1221–1226.

178

Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami M.

"Role of liquid-liquid separation in endocrine and living cells."

J Endocr Soc 2021 5: bvab126.

177

Akiba K, Aso K, Hasegawa Y, Fukami M.

"Genome analyses and androgen quantification for infant with 5α-reductase type 2 deficiency."

J Pediatr Endocrinol Metab 2021 34: 1191–1195.

176

Yoshida T, Matsumoto K, Miyado M, Miyashiro Y, Sago H, Horikawa H, Fukami M.

"Quantification of androgens and their precursors in full-term human placenta."

Eur J Endocrinol 2021 185: K7–K11.

175

Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H.

"Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation."

Brain Dev 2021 43: 945–951.

174

Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H.

"Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant."

J Hum Genet 2021 in press.

173

Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.

"A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2."

J Hum Genet 2021 66: 1121–1126.

172

Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T, Tachibana M, Bessho K, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa T, Ozono K.

"Two girls with a neonatal screening-negative 21-hydroxylase deficiency who requiring treatment with hydrocortisone for virilization in late childhood."

Clin Pediatr Endocrinol 2021 30: 143–148.

171

Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT).

"A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5."

Clin Pediatr Endocrinol 2021 30: 179–185.

170

Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa Y, Nakabayashi K, Fukami M, Kagami M.

"Methylation status of genes escaping from X‑chromosome inactivation in patients with X‑chromosome rearrangements."

Clin Epigenetics 2021 13: 134.

169

Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T.

"ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance."

Clin Epigenetics 2021 13: 119.

168

宮戸真美・緒方勤・深見真紀.

「GNAS-Gsα機能亢進型バリアントに起因する新たな先天性腎疾患の発見」

『糖尿病・内分泌代謝科』 2021 53: 71–77.

167

Shima H, Tokuhiro E, Okamoto S, Nagamori M, Ogata T, Narumi S, Nakamura A, Izumi Y, Jinno T, Suzuki E, Fukami M.

"SOX10 mutation screening for 117 patients with Kallmann syndrome."

J Endocr Soc 2021 5: bvab056.

166

Masunaga Y, Kagami M, Kato F, Usui T, Yomemoto T, Mishima K, Fukami M, Aoto K, Saitsu H, Ogata T.

"Parthenogenic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia."

Clin Epigenetics 2021 13: 73.

165

Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saistu T.

"Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing."

Clin Genet 2021 100: 40–50.

164

Saida K, Fukuda T, Sengoku T, Ogata K, Takeshi Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.

"OTUD5 variants associated with X-linked intellectual disability and congenital malformation."

Front Cell Dev Biol 2021 9: 631428.

163

Nishina S, Hosono K, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Hotta Y, Azuma N.

"Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome."

J Hum Genet 2021 66: 1021–1027.

162

Binder G, Nakamura A, Schweizer, Ogata T, Fukami M, Nagasaki K.

"Long-term effect of aromatase inhibition in aromatase excess syndrome."

J Clin Endocrinol Metab 2021 106: 1491–1500.

161

Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T.

"Primary ovarian insufficiency in a female with PMM2 mutations for congenital disorder of glycosylation."

Endocr J 2021 68: 605–611.

160

Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.

"Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum."

J Clin Endocrinol Metab 2021 106: 802–813.

159

Tamaoka S, Suzuki E, Hattori A, Ogata T, Fukami M, Katoh-Fukui Y.

"NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism."

Hum Genome Var 2021 8: 5.

158

Shindo M, Tsumura H, Miyado K, Kang W, Kawano N, Yoshida T, Fukami M, Miyado M.

"Similar responsiveness between C57BL/6N and C57BL/6J mouse substrains to superovulation."

MicroPubl Biol 2021 doi: 10.17912/micropub.biology.000375.

157

Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S.

"Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development."

Am J Med Genet A 2021 185: 1067–1075.

156

Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H.

"A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B)."

J Bone Miner Res 2021 36: 546–552.

155

Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T.

"Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review."

Endocr J 2021 68: 111–117.

154

Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S.

"Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism."

J Hum Genet 2021 66: 205–214.

153

Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T.

"Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3."

J Hum Genet 2021 66: 439–443.

152

深見真紀.

「SHOX異常症」

『小児疾患診療のための病態生理2 第6版』 2021.

151

深見真紀.

「SHOX（関連疾患：Turner症候群）小児遺伝子疾患事典」

『小児科診療特大号』 2021.

150

Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Haga N.

"Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan."

J Orthop Sci 2021 26: 650–654.

149

Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y.

"Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1."

Am J Med Genet A 2020 182: 1500–1505.

148

Horikawa R, Ogata T, Matsubara Y, Yokoya S, Ogawa Y, Nishijima K, Endo T, Ozono K.

"Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients."

Endocr J 2020 67: 803–818.

147

Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M.

"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver–Russell syndrome."

J Med Genet 2020: jmedgenet–2020–107019.

146

Iwahashi-Odano M, Fujisawa Y, Ogata T, Nakashima S, Muramatsu M, Narumi S.

"Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia."

Clin Pediatr Endocrinol 2020 29: 173–178.

145

Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M.

"Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients."

Clin Epigenetics 2020 12: 86.

144

Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M.

"Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years."

Clin Epigenetics 2020 12: 111.

143

Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M.

"Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome."

Clin Epigenetics 2020 12: 159.

142

Kawabe Y, Yamaguchi M, Miyagaki S, Ota T, Morimoto H, Hattori A, Fukami M, Mori J.

"45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: A case report."

Clin Pediatr Endocrinol 2020 29: 189–193.

141

Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T.

"Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report."

Clin Pediatr Endocrinol 2020 29: 179–182.

140

Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group.

"Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature."

J Pediatr Endocrinol Metab 2020 33: 1335–1339.

139

Iwahashi-Odano M, Nagasaki K, Fukami M, Nishioka J, Yatsuga S, Asakura Y, Adachi M, Muroya K, Hasegawa T, Narumi S.

"Congenital hypothyroidism due to truncating PAX8 mutations: a case series and molecular function studies."

J Clin Endocrinol Metab 2020 105: dgaa584.

138

Fujisawa Y, Kitaoka T, Ono H, Nakashima S, Ozono K, Ogata T.

"Efficacy of reduced doses of asfotase alfa replacement therapy in an infant with hypophosphatasia who lacked severe clinical symptoms."

Front Endocrinol 2020 11: 590455.

137

Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T.

"TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts."

Eur J Med Genet 2020 63: 104060.

136

Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T.

"Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing."

Clin Case Rep 2020 8: 1076–1080.

135

Igarashi M. Masunaga Y, Hasegawa Y, Kinjo L, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M.

"Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development."

Sci Rep 2020 10: 17375.

134

Nagasaki K, Takase K, Numakura C, Homma K, Hasegawa T, Fukami M.

"Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour."

Hum Reprod 2020 35: 2609–2612.

133

Hattori A, Fukami M.

"Established and novel mechanisms leading to de novo genomic rearrangements in the human germline."

Cytogenet Genome Res 2020 160: 167–176.

132

Akiba K, Narumi S, Nishimura R, Katoh-Fukui Y, Takada S, Hasegawa Y, Fukami M.

"SOX9 is co-localized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins."

Mol Repod Dev 2020 87:1124–1125.

131

Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M, Fukami M.

"Circulating steroids and mood disorders in patients with polycystic ovary syndrome."

Steroids 2020 165: 108748.

130

Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T.

"Human spermatogenesis tolerates massive size reduction of the pseudoautosomal region."

Genome Biol Evol 2020 12: 1961–1964.

129

宮戸真美・福井由宇子・深見真紀.

「性スペクトラム」

『月刊泌尿器』 2020.

128

Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa RS, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M.

"Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency."

Sci Rep 2020 10:10985.

プレスリリース先天性下垂体機能低下症の症例で新たな遺伝子変異を同定

127

Mastubara K, Yanagida K, Nagai T, Kagami M, Fukami M.

"De novo small supernumerary marker chromosomes arising from partial trisomy rescue."

Front Genet 2020 11: 132.

126

Fukami M.

"Puberty in patients with aromatase disorders."

Curr Op Endocrine Metab Res 2020 in press.

125

Ushijima K, Okuno M, Ayabe T, Kikuchi N, Kawamura T, Urakami T, Yokota I, Amemiya S, Uchiyama T, Kikuchi T, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes.

"Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes."

Diabet Med 2020 37: 2131–2135.

124

Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M.

"Copy-number analysis of Y chromosomal loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y."

Reprod Med Biol 2020 19: 178–181.

123

Hiraide T, Kobota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H.

"POLR3A variants in striatal involvement without diffuse hypomyelination."

Brain Dev 2020 42: 363–368.

122

Imura K, Ikeya S, Ogata T, Tokura Y.

"Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation."

J Dermatol 2020 47: e111–e113.

121

Saito-Abe M, Yamamoto-Hanada K, Nakayama SF, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y.

"Reference values for salivary cortisol in heathy young infants by LC-MS/MS."

Pediatr Int 2020 62: 785–788.

120

Matsushita R, Nagasaki K, Ayabe T, Kinjo S, Haruna H, Ihara K, Hasegawa T, Ogata T, Ozono K, Minamitani K, Thyroid Committee of the Japanese Society for Pediatric Endocrinology.

"Early calcitonin level-based thyroidectomy may reduce postoperative complications and improve prognosis in MEN2."

J Pediatr Endocrinol Metab 2020 in press.

119

Hiraide T, Watanabe S, Matsybayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H.

"A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder."

Mol Genet Genomic Med 2020 8: e1145.

118

Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H.

"Exome reports: A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features."

Eur J Med Genet 2020 63: 103804.

117

Akiba K, Ushijima K, Fukami M, Hasegawa Y.

"A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes."

Diabet Med 2020 37: 1772–1776.

116

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T.

"De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions."

J Hum Genet 2020 65: 181–186.

115

Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M.

"Random X chromosome inactivation in patients with Klinefelter syndrome."

Mol Cell Pediatr 2020 7: 1.

114

Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T.

"IGF2 mutations: report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations."

J Clin Endocrinol Metab 2020 105: 116–125.

113

Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M, Katoh-fukui Y.

"Frequency of common copy-number variations at 15q11.2-q13 in sperm of healthy men."

Cytogenet Genome Res 2019 159: 66–73.

112

Uehara E, Hattori A, Shima H, Ishiguro A, Abe Y, Ogata T, Ogawa E, Fukami M.

"Unbalanced Y;7 translocation between two low-similarity sequences leading to SRY-positive 45,X-testicular disorders of sex development."

Cytogenet Genome Res 2019 158: 115–120.

111

Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M.

"Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells."

BMC Medical Genomics 2019 12: 77.

110

Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horiwaka Y, Matsubara Y, Fukami M, Kawamura T; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

"KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes."

Pediatr Diabetes 2019 20: 712–719.

109

Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M.

"SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis."

Am J Med Genet A 2019 179: 1778–1782.

108

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N.

"MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration."

Hum Mol Genet 2019 28: 2319–2329.

107

Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y.

"A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism."

Mol Genet Genomic Med 2019 7: e730.

106

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T.

"De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation."

J Hum Genet 2019 64: 1041–1044.

105

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T.

"Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)."

Eur J Hum Genet 2019 27: 1845–1857.

104

Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T.

"Association of four imprinting disorders and ART."

Clin Epigenetics 2019 11: 21.

103

Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H.

"Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus."

Hum Reprod 2019 34: 1567–1575.

102

Aiba T, Saito T, Hayashi A, Sato S, Yunokawa H, Fukami M, Hayashi Y, Mizuno K, Sato Y, Kojima Y, Ohsako S.

"Exploring disease-specific methylated CpGs in human male genital abnormalities by using MSD-AFLP."

J Reprod Dev 2019 65: 491–497.

101

Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S.

"Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease."

Respir Investig 2019 57:395–398.

100

Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H.

"Reply: Artificial cycle 'per se' or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle?"."

Hum Reprod 2019 34: 2554–2555.

099

宮戸真美・深見真紀.

「Y染色体喪失とヒトの性スペクトラム」

『実験医学』 2019.

098

Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M, Fukami M.

"Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool."

Hum Reprod 2019 34: 1762–1769.

プレスリリース胎児の出生を可能とする染色体数の自然修復は、受精後数日に集中

097

Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T.

"Germline-derived gain-of-function variants of Gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis."

J Am Soc Nephrol 2019 30: 877–889.

096

Miyado M, Fukami M.

"Losing maleness: Somatic Y chromosome loss at every stage of a man's life."

FASEB Bioadvances 2019 1: 350–352.

095

Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T.

"A case report and literature review of monoallelic mutation of GHR."

J Pediatr Endocrinol Metab 2019 32: 415–419.

094

Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T.

"Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR."

Clin Epigenetics 2019 11: 42.

093

Hernandez Mora JR, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simón C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K.

"Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform."

Epigenomics 2018 10: 941–954.

092

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y.

"Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations."

Jpn J Ophthalmol 2018 62: 458–466.

091

Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Hashimoto S, Haga N.

"Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology."

BMC Musculoskelet Disord 2018 19: 262.

090

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N.

"Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures."

J Hum Genet 2019 64: 313–322.

089

Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H.

"Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases."

Brain Dev 2019 41: 474–479.

088

緒方勤.

「性分化疾患における社会的性の決定」

『内分泌・糖尿病・代謝内科』 2018.

087

緒方勤.

「インプリンティング疾患」

『医のあゆみ　遺伝子解析研究の新時代』 2018.

086

緒方勤.

「SHOX異常症（SHOX半量不全）」

『別冊　日本臨牀　内分泌症候群（第3版）』 2018.

085

緒方勤.

「Silver-Russell症候群」

『別冊　日本臨牀　内分泌症候群（第3版）』 2018.

084

緒方勤.

「先天性副腎低形成を主徴とする新たな疾患：IMAGe症候群とMIRAGE症候群」

『ACTH Released Peptides』 2018.

083

緒方勤.

「性分化疾患の診断・鑑別診断」

『内分泌代謝専門医研修ガイドブック』 2018.

082

緒方勤.

「Noonan症候群」

『別冊　日本臨牀　内分泌症候群（第3版）』 2018.

081

緒方勤.

「性腺・性器の発生と分化」

『病気がみえる　婦人科（第4版）』 2018.

080

緒方勤.

「先天性副腎皮質過形成」

『病気がみえる　婦人科（第4版）』 2018.

079

緒方勤.

「アンドロゲン不応症」

『病気がみえる　婦人科（第4版）』 2018.

078

緒方勤.

「Turner症候群」

『病気がみえる　婦人科（第4版）』 2018.

077

緒方勤.

「Klinefelter症候群」

『病気がみえる　婦人科（第4版）』 2018.

076

緒方勤.

「Klinefelter症候群」

『病気がみえる　婦人科（第4版）』 2018.

075

Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M.

"Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones."

Bone 2019 120: 219–231.

074

Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M.

"(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty."

Hum Genome Var 2019 6: 7.

073

Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M.

"DNA methylation status of SHOX-flanking CpG islands in healthy individuals and short stature patients with pseudoautosomal copy-number variations."

Cytogenet Genome Res 2019 158: 56–62.

072

Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K.

"Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation."

J Pediatr Endocrinol Metab 2019 32: 191–196.

071

Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M.

"Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity."

Endocr J 2019 66: 387–393.

070

Sutani A, Shima H, Hijikata A, Hosokawa S, Katoh-Fukui Y, Takasawa K, Suzuki E, Doi S, Shirai T, Morio T, Fukami M, Kashimada K.

"WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome."

Eur J Med Genet 2020 63: 103626.

069

Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M.

"Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions."

Clin Epigenetics 2019 11: 36.

068

Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I.

"A follow-up from infancy to puberty in a Japanese male with SRY-Negative 46,XX testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1."

Sex Dev 2019 13: 60–66.

067

Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M.

"Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology."

J Med Genet 2019 56: 413–418.

066

Naiki Y, Fukami M.

"Letters to the Editor: Congenital adrenal hyperplasia due to steroid 21-Hydroxylase Deficiency: An endocrine society clinical practice guideline."

J Clin Endocrinol Metab 2019 104: 1926–1927.

065

Fukami M.

"Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome."

EBioMedicine 2018 37: 29–30.

064

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y.

"Molecular diagnosis of 34 Japanese families with Leber congenital amaurosis using targeted next generation sequencing."

Sci Rep 2018 8: 8279.

063

Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M.

"11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome."

Endocr J 2018 65: 979–990.

062

Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G.

"The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported."

Clin Dysmorphol 2018 28: 26–29.

061

Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.

"MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency."

PLoS One 2018 13: e0206184.

060

Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T.

"GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development."

Clin Case Rep 2018 6: 2229–2233.

059

Matsubara K, Kagami M, Fukami M.

"Uniparental disomy as a cause of pediatric endocrine disorders."

Clin Pediatr Endocrinol 2018 27: 113–121.

058

深見真紀.

「ヒト染色体バリエーションの新知見」

Journal of Mammalian Ova Research 2018 3: 17–23.

057

宮戸真美・深見真紀.

「停留精巣の原因遺伝子と環境因子―ゲノム解析の現況と未来」

『臨床泌尿器科』 2018.

056

深見真紀.

「女性化乳房」

『見て学ぶ小児内分泌疾患』 2018 v12.

055

深見真紀・緒方勤.

「目で見る染色体異常症の診断と生殖内分泌関連疾患　－Y染色体異常症―」

『Hormone Frontier in Gynecology』 2018.

054

服部淳・深見真紀.

「性分化疾患（性腺分化異常症）の診断と治療」

『最新女性医療』 2018.

053

深見真紀.

「17βヒドロキシステロイド・デヒドロゲナーゼ3型欠損症」

『別冊　日本臨牀　内分泌症候群（第3版）』 2018.

052

深見真紀.

「性分化疾患（婦人科・小児科）」

『今日の臨床サポート』 2018.

051

深見真紀.

「Turner症候群の遺伝学　特集：小児循環器疾患の生涯包括遺伝医療」

『小児科診療』 2019 82.

050

深見真紀.

「Sohval-Soffer症候群」

『別冊　日本臨牀　領域別症候群シリーズ』　No.4 2019.

049

深見真紀.

「ヒトの性」

『遺伝子から解き明かす性の不思議な世界』 2019.

048

深見真紀.

「片親性ダイソミー」

『遺伝子医学』 2019.

047

Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M.

"STX2 is a causative gene for non-obstructive azoospermia."

Hum Mutat 2018 39: 830–833 (Cover article).

プレスリリース無精子症の原因となる新たなる遺伝子異常を発見

046

Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M.

"GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly."

Asian J Androl 2018 20: 629–631.

045

Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M.

"Somatically acquired idic(Y) and mosaic loss of chromosome Y in a boy with hypospadias."

Cytogenet Genome Res 2018 154: 122–125.

044

Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M.

"A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth."

J Med Genet 2018 55: 567–570.

043

Kawasima S, Nakmura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fikushima Y, Tatematsu T, Mizuno S. Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M.

"Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patients."

J Clin Endocrinol Metab 2018 103: 2083–2088.

042

Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA.

"Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature."

Eur J Hum Genet 2018 26: 1113–1120.

041

Sekiguchi K, Itonaga T, Tomoki M, Fukami M, Yorifuji T, Ihara K.

"A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy."

Eur J Med Genet 2018 61: 312–314.

040

Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M.

"An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome."

Hum Genome Var 2018 5: 18006.

039

Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M.

"A severely short-statured girl with 47,XX,+14/46,XX,upd(14)mat, mosaicism."

J Hum Genet 2018 63: 377–381.

038

Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y.

"Expression of xenobiotic biomarkers CYP1 family in preputial tissue of patients with hypospadias and phimosis and its association with DNA methylation level of SRD5A2 minimal promoter."

Arch Environ Contam Toxicol 2018 74: 240–247.

037

Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Mise N, Kayama F, Saito H, Ohya Y.

"Regional difference of infant 25OHD levels in Pilot Study of Japan Environment and Children's Study."

Pediatr Int 2018 60: 30–34.

036

Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S.

"Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations."

J Med Genet 2018 55: 81–85.

035

Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T.

"FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism."

Am J Med Genet A 2018 176: 139–143.

034

Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R.

"Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome."

Endocr J 2018 65: 221–225.

033

Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Kubo M, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

"Protein-altering variants of PTPN2 in childhood-onset type 1A diabetes."

Diabet Med 2018 35: 376–380.

032

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T.

"Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency."

J Steroid Biochem Mol Biol 2018 178: 177–184.

031

Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J.

"Effectiveness of sodium-glucose cotransporter-2 inhibitor as an add-on drug to GLP-1 receptor agonists for glycemic control of a patient with Prader-Willi syndrome: a case report."

Diabetes Ther 2018 9: 421–426.

030

Takeuchi T, Yoto Y, Ishii A, Tsugawa T, Yamamoto M, Hori T, Kamasaki H, Nogami K, Oda T, Nui A, Kimura S, Yamagishi T, Homma K, Hasegawa T, Fukami M, Watanabe Y, Sasamoto H, Tsutsumi H.

"Adrenocortical carcinoma characterized by gynecomastia: a case report."

Clin Pediatr Endocrinol 2018 27: 9–18.

029

Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T.

"Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene."

Sci Rep 2018 8: 2287.

028

Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T.

"Gain-of-function mutations in G-protein coupled receptor genes associated with human endocrine disorders."

Clin Endocrinol 2018 88: 351–359.

027

Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M.

"Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues."

Hum Mutat 2017 38: 39–34.

026

Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M , Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T.

"Paradoxical gain-of-function mutant of the G-protein coupled receptor PROKR2 promotes early puberty."

J Cell Mol Med 2017 21: 2623–2626.

025

Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M.

"Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations."

Andrology 2017 5: 824–831.

024

Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M.

"SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism."

Endocr J 2017 64: 813–817.

023

Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

"Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes."

Pediatr Diabetes 2017 19: 243–250.

022

Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T.

"De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly."

Hum Mutat 2017 38: 953–958.

021

Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H.

"Maternally-derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome."

J Hum Genet 2017 62: 919–922.

020

Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi, K, Matsubara Y, Narumi S, Tanaka T, Fukami M.

"Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature."

Endocr J 2017 64: 947–954.

019

Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T.

"Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients."

Genet Med 2017 19: 1356–1366.

018

Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M.

"Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome."

Am J Med Genet A 2017 173: 2847–2850.

017

Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M.

"A de novo 50-bp GNAS intragenic duplication in a patient with pseudohypoparathyroidism type 1a."

Cytogenet Genome Res 2017 153: 125–130.

016

Saito K, Miyado M, Fukami M, Ono I, Sumori K.

"Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer."

Reprod Med Biol 2017 17: 89–92.

015

Takasawa K, Gau M, Sutani A, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K.

"Phenotypic variation in 46,XX disorders of sex development due to the NR5A1 p.R92W variant: a sibling case report and literature review."

Sex Dev 2017 11: 284–288.

014

Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T.

"(Epi)genotype-phenotype analysis in 69 Japanese patients with pseudohypoparathyroidism type I."

J Endocr Soc 2017 21: 9–23.

013

Fukami M, Kurahashi H.

"Clinical consequences of chromothripsis and other catastrophic cellular events."

In: Pellestor F (ed.), Chromothripsis - Methods in Molecular Biology Springer, pp.21–33, 2018.

012

深見真紀.

『SHOX異常症 —基礎から最新知見まで—』

緒方勤監、神崎晋・深見真紀編、診断と治療社、2017 .

011

深見真紀.

「26.1：性決定にかかわる遺伝子」

ヒトゲノム事典編集委員会編、『ヒトゲノム事典』一式出版発行、悠書館出版、2017.

010

Mora JRH, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simón C, Moran S, Esteller M, Tenorio J, Pablo Lapunzina P, Kagami M, Monk D, Nakabayashi K.

"Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform."

Epigenomics 2018 10:941–954.

009

Ozono K, Ogata T, Horikawa R, Matsubara Y, Ogata Y, Nishijima K, Yokoya S.

"Efficacy and safety of two doses of Norditropin (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients."

Endocr J 2018 65: 159–174.

008

Nakashima M, Hiraide T, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H.

"De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism."

Hum Genet 2018 137: 95–104.

007

Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

"Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth of Turner syndrome."

Clin Pediatr Endocrinol 2017 26: 153–164.

006

Shozu M, Ishikawa H, Horikawa R, Sakakibara H, Izumi SI, Ohba T, Hirota Y, Ogata T, Osuga Y, Kugu K.

"Nomenclature of primary amenorrhea: a proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea."

J Obstet Gynaecol Res 2017 43: 1738–1742.

005

Hosokawa Y, Kawakita R, Yokoya S, Ogata T, OzonoK, Arisaka O, Hasegawa Y, Kusuda S, Masue M, Nishibori H, Sairenchi T, Inoue E, Yorifuji T.

"Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry."

Endocr J 2017 64: 867–880.

004

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

"X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD) associated with mutations in AIFM1."

Neurogenetics 2017 18: 185–194.

003

Sakata S, Okada S, Aoyama K, Hara K, Tani C, Kagawa R, Utsunomiya-Nakamura A, Miyagawa S, Ogata T, Mizuno H, Kobayashi M.

"Individual clinically diagnosed with CHARGE syndrome but with a mutation in KMT2D, a gene associated with Kabuki syndrome: a case report."

Front Genet (Genetic Disorders Section) 2017 8: 210.

002

Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T.

"Mosaic UPD(14)pat in a patient with mild features of Kagami-Ogata syndrome."

Clin Case Rep 2017 6: 91–95.

001

深見真紀.

第18回小児医学川野賞

公益財団法人川野小児医学奨学財団より2018年3月10日に受賞 .