1. 研究成果
  2. 計画研究A02 - 深見真紀
  1. 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
  2. 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 in press.

  3. 126

    Fukami M.

    "Puberty in patients with aromatase disorders."

    Curr Op Endocrine Metab Res 2020 in press.

  4. 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 in press.

  5. 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 in press.

  6. 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 in press.

  7. 122

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

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

    J Dermatol 2020 in press.

  8. 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 in press.

  9. 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.

  10. 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 in press.

  11. 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 in press.

  12. 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 in press.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  21. 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.

  22. 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.

  23. 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.

  24. 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.

  25. 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.

  26. 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.

  27. 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.

  28. 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.

  29. 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.

  30. 099



    『実験医学』 2019.

  31. 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
  32. 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.

  33. 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.

  34. 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.

  35. 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.

  36. 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.

  37. 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.

  38. 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.

  39. 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.

  40. 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.

  41. 088



    『内分泌・糖尿病・代謝内科』 2018.

  42. 087



    『医のあゆみ 遺伝子解析研究の新時代』 2018.

  43. 086



    『別冊 日本臨牀 内分泌症候群(第3版)』 2018.

  44. 085



    『別冊 日本臨牀 内分泌症候群(第3版)』 2018.

  45. 084



    『ACTH Released Peptides』 2018.

  46. 083



    『内分泌代謝専門医研修ガイドブック』 2018.

  47. 082



    『別冊 日本臨牀 内分泌症候群(第3版)』 2018.

  48. 081



    『病気がみえる 婦人科(第4版)』 2018.

  49. 080



    『病気がみえる 婦人科(第4版)』 2018.

  50. 079



    『病気がみえる 婦人科(第4版)』 2018.

  51. 078



    『病気がみえる 婦人科(第4版)』 2018.

  52. 077



    『病気がみえる 婦人科(第4版)』 2018.

  53. 076



    『病気がみえる 婦人科(第4版)』 2018.

  54. 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.

  55. 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.

  56. 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.

  57. 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.

  58. 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.

  59. 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.

  60. 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.

  61. 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.

  62. 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 in press.

  63. 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 in press.

  64. 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.

  65. 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.

  66. 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.

  67. 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.

  68. 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.

  69. 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.

  70. 059

    Matsubara K, Kagami M, Fukami M.

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

    Clin Pediatr Endocrinol 2018 27: 113–121.

  71. 058



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

  72. 057



    『臨床泌尿器科』 2018.

  73. 056



    『見て学ぶ小児内分泌疾患』 2018 v12.

  74. 055


    「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.

  75. 054



    『最新女性医療』 2018.

  76. 053



    『別冊 日本臨牀 内分泌症候群(第3版)』 2018.

  77. 052



    『今日の臨床サポート』 2018.

  78. 051


    「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.

  79. 050



    『別冊 日本臨牀 領域別症候群シリーズ』 No.4 2019.

  80. 049



    『遺伝子から解き明かす性の不思議な世界』 2019.

  81. 048



    『遺伝子医学』 2019.

  82. 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
  83. 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.

  84. 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.

  85. 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.

  86. 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.

  87. 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.

  88. 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.

  89. 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.

  90. 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.

  91. 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.

  92. 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.

  93. 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.

  94. 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.

  95. 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.

  96. 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.

  97. 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.

  98. 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.

  99. 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.

  100. 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.

  101. 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.

  102. 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.

  103. 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.

  104. 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.

  105. 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.

  106. 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.

  107. 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.

  108. 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.

  109. 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.

  110. 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.

  111. 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.

  112. 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.

  113. 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.

  114. 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.

  115. 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.

  116. 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.

  117. 012


    『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 .

  118. 011



    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.

  119. 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.

  120. 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.

  121. 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.

  122. 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.

  123. 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.

  124. 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.

  125. 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.

  126. 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.

  127. 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.

  128. 001



    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 .