診療科・局・施設のご案内

臨床研究所

2018年 発表論文

Adachi M, Soneda A(内分泌代謝科). Unnoticed maternal Graves' disease revealed by the baby's low free thyroxine in newborn screening: an underestimated condition supporting thyroid disease screening among pregnant women. J Endocrinol Invest. 2018;41:143-144.
Minato H, Kobayashi E, Nakada S, Kurose N, Tanaka M, Tanaka Y(病理診断科), Suzuki S, Tanioka F, Saikawa Y, Miwa T, Nojima T. Sinonasal NUT carcinoma:clinicopathological and cytogenetic analysis with autopsy findings. Hum Pathol. 2018;71:157-165.
Kawakami H, Mihara T, Nakamura N, Ka K(麻酔科), Goto T. Effect of magnesium added to local anesthetics for caudal anesthesia on postoperative pain in pediatric surgical patients: A systematic review and meta-analysis with Trial Sequential Analysis. PLoS One. 2018;13:e0190354.
Shimbo H(臨床研究所), Oyoshi T, Kurosawa K(遺伝科). Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. Congenit Anom(Kyoto). 2018;58:33-35.
Oshima Y, Nakagawa Y, Kashima T, Matsunaga M, Kushima S, Tanaka Y(病理診断科). Primary renal mixed tumor characterized by marked proliferation of osteoblast-like cells with osteoid formation in a swine. J Vet Med Sci. 2018;80:112-115.
Ota N(心臓血管外科), Sivalingam S, Pau KK, Hew CC, Dillon J, Latiff HA, Samion H, Yakub MA. Primary Arterial Switch Operation for Late Referral of Transposition of the Great Arteries with Intact Ventricular Septum in the Current Era: Do We Still Need a Rapid Two-Stage Operation? World J Pediatr Congenit Heart Surg. 2018;9:74-78.
Urayama KY, Takagi M, Kawaguchi T, Matsuo K, Tanaka Y, Ayukawa Y, Arakawa Y, Hasegawa D, Yuza Y, Kaneko T, Noguchi Y, Taneyama Y, Ota S, Inukai T, Yanagimachi M, Keino D, Koike K, Toyama D, Nakazawa Y, Kurosawa H, Nakamura K, Moriwaki K, Goto H(血液再生医療科), Sekinaka Y, Morita D, Kato M, Takita J, Tanaka T, Inazawa J, Koh K, Ishida Y, Ohara A, Mizutani S, Matsuda F, Manabe A. Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018;8:789.
Takata A, Miyake N, Tsurusaki Y(臨床研究所), Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep. 2018;22:734-747.
Saito J, Yokoyama U, Nicho N, Zheng YW, Ichikawa Y, Ito S, Umemura M, Fujita T, Ito S, Taniguchi H, Asou T(心臓血管外科), Masuda M, Ishikawa Y. Tissue-type plasminogen activator contributes to remodeling of the rat ductus arteriosus. PLoS One. 2018 Jan 5;13:e0190871.
Tomotaki S, Naramura T(新生児科), Hanakawa J(内分泌代謝科), Toyoshima K(新生児科), Muroya K, Adachi M(内分泌代謝科). Fluctuation of blood glucose levels in an infant with an ileostomy on continuous glucose monitoring: A case report. Clin Pediatr Endocrinol. 2018;27:39-43.
Kuwatsuka Y, Tomizawa D, Kihara R, Nagata Y, Shiba N, Iijima-Yamashita Y, Shimada A, Deguchi T, Miyachi H, Tawa A, Taga T, Kinoshita A, Nakayama H, Kiyokawa N, Saito AM, Koh K, Goto H(血液再生医療科), Kosaka Y, Asou N, Ohtake S, Miyawaki S, Miyazaki Y, Sakura T, Ozawa Y, Usui N, Kanamori H, Ito Y, Imai K, Suehiro Y, Kobayashi S, Kitamura K, Sakaida E, Ogawa S, Naoe T, Hayashi Y, Horibe K, Manabe A, Mizutani S, Adachi S, Kiyoi H. Prognostic value of genetic mutations in adolescent and young adults with acute myeloid leukemia. Int J Hematol. 2018;107:201-210.
Nishida T, Mihara T, Ka K(麻酔科). Predictors for incidence of increased time spent in hospital after ambulatory surgery in children: a retrospective cohort study. J Anesth. 2018;32:98-103.
Kouga T, Takagi M(神経内科), Miyauchi A, Shimbo H, Iai M, Yamashita S(神経内科), Murayama K, Klein MB, Miller G, Goto T, Osaka H(神経内科). Japanese Leigh syndrome case treated with EPI-743. Brain Dev. 2018;40:145-149.
Isobe T, Seki M, Yoshida K, Sekiguchi M, Shiozawa Y, Shiraishi Y, Kimura S, Yoshida M(病理診断科), Inoue Y, Yokoyama A, Kakiuchi N, Suzuki H, Kataoka K, Sato Y, Kawai T, Chiba K, Tanaka H, Shimamura T, Kato M, Iguchi A, Hama A, Taguchi T, Akiyama M, Fujimura J, Inoue A, Ito T, Deguchi T, Kiyotani C, Iehara T, Hosoi H, Oka A, Sanada M, Tanaka Y(病理診断科), Hata K, Miyano S, Ogawa S, Takita J. Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma. Cancer Res. 2018;78:865-876.
Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y(内分泌代謝科), Nagasaki K, Abe T, Hasegawa T. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Eur J Endocrinol. 2018;178:137-144.
Huang M, Inukai T, Kagami K, Abe M, Shinohara T, Watanabe A, Somazu S, Oshiro H, Goi K, Goto H(血液再生医療科), Minegishi M, Iwamoto S, Urayama KY, Sugita K. Splicing variant profiles and single nucleotide polymorphisms of the glucocorticoid receptor gene in relation to glucocorticoid sensitivity of B-cell precursor acute lymphoblastic leukaemia. Hematol Oncol. 2018;36:245-251.
Ikeda A, Yamashita S, Tsuyusaki Y(神経内科), Tanaka M, Tanaka Y(病理診断科), Hashiguchi A, Takashima H, Goto T(神経内科). Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. Brain Dev. 2018;40:155-158.
Ishii T, Adachi M(内分泌代謝科), Takasawa K, Okada S, Kamasaki H, Kubota T, Kobayashi H, Sawada H, Nagasaki K, Numakura C, Harada S, Minamitani K, Sugihara S, Tajima T. Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. Horm Res Paediatr. 2018;89:166-171.
Akahira-Azuma M(遺伝科), Tsurusaki Y, Enomoto Y(臨床研究所), Mitsui J, Kurosawa K(遺伝科). Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. Hum Genome Var.2018;5:18011.
Inuo C(アレルギー科), Tanaka K, Suzuki S, Nakajima Y, Yamawaki K, Tsuge I, Urisu A, KondoY. Oral Immunotherapy Using Partially Hydrolyzed Formula for Cow's Milk Protein Allergy: A Randomized, Controlled Trial. Int Arch Allergy Immunol. 2018;177:259-268.
Ueda A, Shimbo H(臨床研究所), Yada Y, Koike Y, Yamagata T, Osaka H. Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. Hum Genome Var. 2018;5:18013.
Horie Y, Makihara H, Horikawa K, Takeshige F, Ibuki A, Satake T, Yasumura K(形成外科), Maegawa J, Mitsui H, Ohashi K, Akase T. Reduced skin lipid content in obese Japanese women mediated by decreased expression of rate-limiting lipogenic enzymes. PLoS One. 2018;13:e0193830.
Itoh M, Ide S, Iwasaki Y, Saito T, Narita K, Dai H, Yamakura S, Furue T, Kitayama H, Maeda K, Takahashi E(腎臓内科), Matsui K(総合診療科), Goto YI, Takeda S, Arima M. Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. Brain Dev. 2018;40:259-267.
Sato Y(遺伝科), Shibasaki J(新生児科), Aida N(放射線科), Hiiragi K(産婦人科), Kimura Y(臨床研究所), Akahira-Azuma M(遺伝科), Enomoto Y, Tsurusaki Y(臨床研究所), Kurosawa K(遺伝科). Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly. Hum Genome Var. 2018;5:4.
Huang M, Inukai T, Miyake K, Tanaka Y, Kagami K, Abe M, Goto H(血液再生医療科), Minegishi M, Iwamoto S, Sugihara E, Watanabe A, Somazu S, Shinohara T, Oshiro H, Akahane K, Goi K, Sugita K. Clofarabine exerts antileukemic activity against cytarabine-resistant B-cell precursor acute lymphoblastic leukemia with low deoxycytidine kinase expression. Cancer Med. 2018;7:1297-1316.
Tanoue K(総合診療科), Senda M, An B, Tasaki M, Taguchi M, Kobashi K, Oana S, Mizoguchi F, Shiraishi Y, Yamada F, Okuyama M, Ichikawa K. National survey of hospital child protection teams in Japan. Child Abuse Negl. 2018;79:11-21.
Osaka H, Kouga T(神経内科). Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub. Brain Dev. 2018;40:444.
Uehara T, Takenouchi T, Kosaki R, Kurosawa K(遺伝科), Mizuno S, Kosaki K. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. Eur J Med Genet. 2018;61:243-247.
Okamoto N, Ehara E, Tsurusaki Y(臨床研究所), Miyake N, Matsumoto N. Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. Congenit Anom(Kyoto). 2018;58:105-107.
Shimada A, Iijima-Yamashita Y, Tawa A, Tomizawa D, Yamada M, Norio S, Watanabe T, Taga T, Iwamoto S, Terui K, Moritake H, Kinoshita A, Takahashi H, Nakayama H, Koh K, Goto H(血液再生医療科), Kosaka Y, Saito AM, Kiyokawa N, Horibe K, Hara Y, Oki K, Hayashi Y, Tanaka S, Adachi S. Risk-stratified therapy for children withFLT3-ITD-positive acute myeloid leukemia: results from the JPLSG AML-05 study. Int J Hematol. 2018;107:586-595.
Okabe T, Nozaki T, Aida N(放射線科), Starkey J, Enokizono M, Niwa T(放射線科), Handa A, Numaguchi Y, Kurihara Y. MR imaging findings in some rare neurological complications of paediatric cancer. Insights Imaging. 2018;9:313-324.
Kim WJ, Hayashi C, Yamazaki Y(泌尿器科). Age-related changes in urinary flow following dorsal inlay graft urethroplasty for hypospadias in early childhood: Potential improvement over 11 years of age. Pediatr Urol. 2018;14:278.e1-278.e5.
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S(神経内科), Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018;141:1622-1636.
Shimokaze T, Toyoshima K, Shibasaki J, Itani Y(新生児科). Blood potassium and urine aldosterone after doxapram therapy for preterm infants. J Perinatol. 2018;38:702-707.
Sakai Y, Sato Y, Sato M, Watanabe M(臨床研究所). Clinical usefulness of library and information services in Japan: The detailed use and value of information in clinical settings. PLoS One. 2018;13:e0199944.
Itai T, Ishikawa H(産婦人科), Kurosawa K(遺伝科), Tsuyusaki Y(神経内科). A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. Clin Case Rep. 2018;6:1474-1477.
Shioda N, Yabuki Y, Yamaguchi K, Onozato M, Li Y, Kurosawa K(遺伝科), Tanabe H, Okamoto N, Era T, Sugiyama H, Wada T, Fukunaga K. Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome. Nat Med. 2018;24:802-813.
Hayashi S, Yokoi T, Hatano C(遺伝科), Enomoto Y, Tsurusaki Y(臨床研究所), Naruto T, Kobayashi M, Ida H, Kurosawa K(遺伝科). Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction. Hum Genome Var. 2018;5:11.
Nakano N, Mori M, Umebayashi H, Iwata N, Kobayashi N, Masunaga K, Imagawa T(感染免疫科), Murata T, Kinjo N, Nagai K, Miyoshi M, Takei S, Yokota S, Ishii E. Characteristics and outcome of intractable vasculitis syndrome in children:Nation-wide survey in Japan. Mod Rheumatol. 2018;28:697-702.
Enomoto Y, Tsurusaki Y, Harada N(臨床研究所), Aida N(放射線科), Kurosawa K(遺伝科). Novel AMER1 frameshift mutation in a girl with osteopathiastriata with cranial sclerosis. Congenit Anom(Kyoto). 2018;58:145-146.
Takahashi H, Kajiwara R, Kato M, Hasegawa D, Tomizawa D, Noguchi Y, Koike K, Toyama D, Yabe H, Kajiwara M, Fujimura J, Sotomatsu M, Ota S, Maeda M, Goto H(血液再生医療科), Kato Y, Mori T, Inukai T, Shimada H, Fukushima K, Ogawa C, Makimoto A, Fukushima T, Ohki K, Koh K, Kiyokawa N, Manabe A, Ohara A. Treatment outcome of children with acute lymphoblastic leukemia: the Tokyo Children's Cancer Study Group(TCCSG) Study L04-16. Int J Hematol. 2018;108:98-108.
Koshinaga T, Takimoto T, Oue T, Okita H, Tanaka Y(病理診断科), Nozaki M, Tsuchiya K, Inoue E, Haruta M, Kaneko Y, Fukuzawa M. Outcome of renal tumors registered in Japan Wilms Tumor Study-2 (JWiTS-2): A report from the Japan Children's Cancer Group (JCCG). Pediatr Blood Cancer. 2018;65:e27056.
Minatogawa M(遺伝科), Iwasaki F(血液再生医療科), Yokoi T(遺伝科), Nagai J(検査科), Sakazume S, Goto H(血液再生医療科), Kurosawa K(遺伝科). Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2018;176:1680-1682.
Fujisawa T, Shimoda T, Masuyama K, Okubo K, Honda K, Okano M, Katsunuma T, Urisu A, Kondo Y, Odajima H, Kurihara K(アレルギー科), Nagata M, Taniguchi M, Taniuchi S, Doi S, Matsumoto T, Hashimoto S, Tanaka A, Natsui K, Abe N, Ozaki H. Long-term safety of subcutaneous immunotherapy with TO-204 in Japanese patients with house dustmite-induced allergic rhinitis and allergic bronchial asthma: Multicenter, open label clinical trial. Allergol Int. 2018;67:347-356.
Yokoi T(遺伝科), Enomoto Y, Tsurusaki Y(臨床研究所), Naruto T, Kurosawa K(遺伝科). Non syndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy. Hum Genome Var. 2018;5:20.
Ikeda A, Tsuji M(重症心身障害児施設), Goto T(神経内科), Iai M(重症心身障害児施設). Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan. Brain Dev. 2018;40:558-565.
Imamura M, Hayashi C, Kim WJ, Yamazaki Y(泌尿器科). Renal scarring on DMSA scan is associated with hypertension and decreased estimated glomerular filtration rate in spina bifida patients in the age of transition to adulthood. J Pediatr Urol. 2018;14:317.e1-317.e5.
Machida D, Isomatsu Y, Goda M, Suzuki S, Asou T(心臓血管外科), Masuda M. Successful coronary transfer for transposition of the great arteries with bilateral intramural coronary arteries from a single aortic sinus. Gen Thorac Cardiovasc Surg. 2018;66:476-479.
Nakamura A, Muroya K(内分泌代謝科), Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K(遺伝科), Fukami M, Kagami M. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018;55:567-570.
Tomotaki S(新生児科), Takeyama E, Tanaka M(病理診断科), Ohyama M(新生児科), Tanaka Y(病理診断科). Mucor mycelial thrombosis of the portal vein in an extremely low-birthweight infant. Pediatr Int. 2018;60:764-766.
Morimoto A, Shioda Y, Imamura T, Kudo K, Kitoh T, Kawaguchi H, Goto H(血液再生医療科), Kosaka Y, Tsunematsu Y, Imashuku S; Japan LCH Study Group. Intensification of induction therapy and prolongation of maintenance therapy did not improve the outcome of pediatric Langerhans cell histiocytosis with single-system multifocal bone lesions: results of the Japan Langerhans Cell Histiocytosis Study Group-02Protocol Study. Int J Hematol. 2018;108:192-198.
Shibasaki J(新生児科), Aida N(放射線科), Morisaki N, Tomiyasu M, Nishi Y(放射線科), Toyoshima K(新生児科). Changes in Brain Metabolite Concentrations after Neonatal Hypoxic-ischemic Encephalopathy. Radiology. 2018;288:840-848.
Ishida Y, Maeda M, Adachi S, Rikiishi T, Sato M, Kawaguchi H, Manabe A, Tokuyama M, Hori H, Okamura J, Ogawa A, Goto H(血液再生医療科), Kobayashi R, Yoshinaga S, Fujimoto J, Kuroda T. Secondary bone/soft tissue sarcoma in childhood cancer survivors: a nationwide hospital-based case-series study in Japan. Jpn J Clin Oncol. 2018;48:806-814.
Cheong HI, Yoo HW, Adachi M(内分泌代謝科), Tanaka H, Fujiwara I, Hasegawa Y, Harada D, Sugimoto M, Okada Y, Kato M, Shimazaki R, Ozono K, Seino Y. First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab:Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia. JBMR Plus. 2018;3:e10074.
Tomoyasu C, Imamura T, Tomii T, Yano M, Asai D, Goto H(血液再生医療科), Shimada A, Sanada M, Iwamoto S, Takita J, Minegishi M, Inukai T, Sugita K, Hosoi H. Copy number abnormality of acute lymphoblastic leukemia cell lines based on their genetic subtypes. Int J Hematol. 2018;108:312-318.
Ikeda T, Osaka H, Shimbo H(神経内科), Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T. Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome. Hum Genome Var. 2018;5:25.
Iijima H, Iwano R(内分泌代謝科), Tanaka Y(病理診断科), Muroya K(内分泌代謝科), Fukuda T, Sugie H, Kurosawa K(遺伝科), Adachi M(内分泌代謝科). Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review. Mol Genet Metab Rep. 2018;17:31-37.
Shimura M, Ishikawa H, Nagase H, Mochizuki A, Sekiguchi F, Koshimizu N, Itai T, Odagami M(産婦人科). Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy. Congenit Anom(Kyoto). 2018;58:167-170.
Homma Y, Satake T, Narui K, Tamanoi Y, Muto M, Komiya T, Kobayashi S(形成外科), Ishikawa T, Maegawa J. Salvage mastectomy for local recurrence and second ipsilateral autologous breast reconstruction using a perforator flap from a different donor site. Case Reports Plast Surg Hand Surg. 2018;5:54-58.
Ueda K, Maeno Y, Miyoshi T, Inamura N, Kawataki M, Taketazu M, Nii M, Hagiwara A(母性内科), Horigome H, Shozu M, Shimizu W, Yasukochi S, Yoda H, Shiraishi I, Sakaguchi H, Katsuragi S, Sago H, Ikeda T; ; on behalf of Japan Fetal Arrhythmia Group. The impact of intrauterine treatment on fetal tachycardia: a nationwide survey in Japan. J Matern Fetal Neonatal Med. 2018;31:2605-2610.
Nakamura N, Mihara T, Hijikata T(麻酔科), Goto T, Ka K(麻酔科). Unilateral electrical stimulation of the heart 7 acupuncture point to prevent emergence agitation in children: A prospective, double-blinded, randomized clinical trial. PLoS One. 2018;13:e0204533.
Hoshino A, Tanita K, Kanda K, Imadome KI, Shikama Y(感染免疫科), Yasumi T, Imai K, Takagi M, Morio T, Kanegane H. High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations. Clin Immunol. 2018;195:45-48.
Nakamura M, Umehara N, Ishii K, Sasahara J, Kiyoshi K, Ozawa K, Tanaka K, Tanemoto T, Ichizuka K, Hasegawa J, Ishikawa H(産婦人科), Murakoshi T, Sago H. A poor long-term neurological prognosis is associated with abnormal cord insertion in severe growth-restricted fetuses. Perinat Med. 2018;46:1040-1047.
Kimura Y(臨床研究所), Akahira-Azuma M(遺伝科), Harada N, Enomoto Y, Tsurusaki Y(臨床研究所), Kurosawa K(遺伝科). Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. Congenit Anom(Kyoto). 2018;58:188-190.
Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y(病理診断科), 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.
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y(遺伝科), Saito T, Nagai JI(検査科), Yanagi S, Ueda H(循環器内科), Kurosawa K(遺伝科). Familial total anomalous pulmonary venous return with 15q11.2(BP1-BP2) microdeletion. J Hum Genet. 2018;63:1185-1188.
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y(遺伝科), Saito T, Nagai JI(検査科), Kurosawa K(遺伝科). Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Congenit Anom(Kyoto). 2018;58:191-193.
Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y(臨床研究所), Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018;84:814-828.
Enomoto Y, Tsurusaki Y(臨床研究所), Yokoi T, Abe-Hatano C, Ida K(遺伝科), Naruto T(臨床研究所), Mitsui J, Tsuji S, Morishita S, Kurosawa K(臨床研究所). CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. Eur J Med Genet. 2018 Dec 30. pii: S1769-7212(18)30157-5.
Adachi M(内分泌代謝科), Hasegawa T, Tanaka Y(病理診断科), Asakura Y, Hanakawa J, Muroya K(内分泌代謝科). Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review. Endocr J. 2018;65:1187-1192.
Ishida Y, Maeda M, Adachi S, Inada H, Kawaguchi H, Hori H, Ogawa A, Kudo K, Kiyotani C, Shichino H, Rikiishi T, Kobayashi R, Sato M, Okamura J, Goto H(血液再生医療科), Manabe A, Yoshinaga S, Qiu D, Fujimoto J, Kuroda T. Secondary cancer after a childhood cancer diagnosis: viewpoints considering primary cancer. Int J Clin Oncol. 2018;23:1178-1188.
Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Kurosawa K(遺伝科), Inoue K, Goto YI. A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. Hum Genome Var. 2018;6:1.
Kanayama T, Imamura T, Kawabe Y, Osone S, Tahara J, Iwasaki F, Miyagawa N, Goto H(血液再生医療科), Imashuku S, Hosoi H. KMT2A-rearranged infantile acute myeloid leukemia masquerading as juvenile myelomonocytic leukemia. Int J Hematol. 2018;108:665-669.

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