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Items: 1 to 50 of 294

1.

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T.

J Hum Genet. 2018 Sep 18. doi: 10.1038/s10038-018-0513-0. [Epub ahead of print]

PMID:
30228365
2.

Evaluation between the Usability and Physicochemical Property of Acyclovir Ointments.

Inoue Y, Mitsumori A, Shinohara I, Narumi S, Murata I, Kanamoto I.

J Pharm (Cairo). 2018 Aug 1;2018:8761394. doi: 10.1155/2018/8761394. eCollection 2018.

3.

An Anatomical Variation in the Cervical Carotid Artery of a Young Stroke Patient: A Case Report.

Natori T, Narumi S, Suzuki T, Sato M, Tsuda K, Kamada A, Yoshida M, Oi K, Suzuki Y, Terayama Y.

Intern Med. 2018 Aug 24. doi: 10.2169/internalmedicine.1526-18. [Epub ahead of print]

4.

Optogenetic Control of Synaptic AMPA Receptor Endocytosis Reveals Roles of LTD in Motor Learning.

Kakegawa W, Katoh A, Narumi S, Miura E, Motohashi J, Takahashi A, Kohda K, Fukazawa Y, Yuzaki M, Matsuda S.

Neuron. 2018 Sep 5;99(5):985-998.e6. doi: 10.1016/j.neuron.2018.07.034. Epub 2018 Aug 16.

PMID:
30122381
5.

Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.

Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S.

Horm Res Paediatr. 2018 Aug 15:1-6. doi: 10.1159/000491104. [Epub ahead of print]

PMID:
30110704
6.

Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.

Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S.

Clin Pediatr Endocrinol. 2018;27(3):123-130. doi: 10.1297/cpe.27.123. Epub 2018 Jul 31.

7.

Increased CD40L+PD-1+ follicular helper T cells (Tfh) as a biomarker for predicting calcineurin inhibitor sensitivity against Tfh-mediated B-cell activation/antibody production after kidney transplantation.

Iwasaki K, Kitahata N, Hiramitsu T, Yamamoto T, Noda T, Okada M, Narumi S, Watarai Y, Miwa Y, Uchida K, Matsuoka Y, Horimi K, Kobayashi T.

Int Immunol. 2018 Jul 24;30(8):345-355. doi: 10.1093/intimm/dxy039.

PMID:
29878122
8.

Characterization of α-Glucosidase Inhibitor/Cyclodextrin Complex Prepared by Freeze-Drying.

Inoue Y, Narumi S, Mitsumori A, Murata I, Kanamoto I.

J Pharm (Cairo). 2018 May 7;2018:3202719. doi: 10.1155/2018/3202719. eCollection 2018.

9.

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

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

Asian J Androl. 2018 May 4. doi: 10.4103/aja.aja_20_18. [Epub ahead of print] No abstract available.

10.

Partial Cystectomy of Paraganglioma of the Urinary Bladder Before Living Kidney Transplantation: Case Report.

Kido K, Hatakeyama S, Hamano I, Yamamoto H, Imai A, Yoneyama T, Hashimoto Y, Koie T, Fujita T, Murakami R, Tomita H, Suzuki T, Narumi S, Ohyama C.

Transplant Proc. 2018 Apr;50(3):898-901. doi: 10.1016/j.transproceed.2018.01.015.

PMID:
29661460
11.

Peripheral blood immune response-related gene analysis for evaluating the potential risk of chronic antibody-mediated rejection.

Yamamoto T, Iwasaki K, Murotani K, Takeda A, Futamura K, Okada M, Tsujita M, Hiramitsu T, Goto N, Narumi S, Watarai Y, Morozumi K, Uchida K, Kobayashi T.

Hum Immunol. 2018 Jun;79(6):432-438. doi: 10.1016/j.humimm.2018.03.012. Epub 2018 Apr 1.

PMID:
29614336
12.

Slow Progression of Aortic Calcification Is a Potential Benefit of Pre-emptive Kidney Transplantation.

Mursawa H, Hatakeyama S, Yamamoto H, Tanaka Y, Soma O, Matsumoto T, Yoneyama T, Hashimoto Y, Koie T, Fujita T, Murakami R, Saitoh H, Suzuki T, Narumi S, Ohyama C.

Transplant Proc. 2018 Jan - Feb;50(1):145-149. doi: 10.1016/j.transproceed.2017.12.011.

PMID:
29407299
13.

Rare monogenic causes of primary adrenal insufficiency.

Narumi S.

Curr Opin Endocrinol Diabetes Obes. 2018 Jun;25(3):172-177. doi: 10.1097/MED.0000000000000401.

PMID:
29373482
14.

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS.

Blood Adv. 2018 Jan 23;2(2):120-125. doi: 10.1182/bloodadvances.2017012682. No abstract available.

15.

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

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

Cytogenet Genome Res. 2017;153(3):125-130. doi: 10.1159/000485644. Epub 2018 Jan 11.

PMID:
29320763
16.

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S.

Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21.

PMID:
29266745
17.

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

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

J Med Genet. 2018 Feb;55(2):81-85. doi: 10.1136/jmedgenet-2017-105020. Epub 2017 Nov 24.

PMID:
29175836
18.

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.

Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T.

Eur J Endocrinol. 2018 Feb;178(2):137-144. doi: 10.1530/EJE-16-1049. Epub 2017 Nov 1.

PMID:
29092890
19.

Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation.

Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H.

J Pediatr Hematol Oncol. 2018 Apr;40(3):e195-e197. doi: 10.1097/MPH.0000000000000948.

PMID:
28902083
20.

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.

Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.

Endocr J. 2017 Nov 29;64(11):1087-1097. doi: 10.1507/endocrj.EJ17-0194. Epub 2017 Sep 1.

21.

Triglyceride metabolism in Japanese kidney transplant recipients.

Tsujita M, Goto N, Futamura K, Okada M, Hiramitsu T, Narumi S, Watarai Y.

Clin Exp Nephrol. 2018 Apr;22(2):459-464. doi: 10.1007/s10157-017-1462-1. Epub 2017 Aug 28.

PMID:
28849320
22.

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.

Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26747. Epub 2017 Aug 17. No abstract available.

PMID:
28834235
23.

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H.

Eur J Med Genet. 2017 Dec;60(12):635-638. doi: 10.1016/j.ejmg.2017.08.002. Epub 2017 Aug 12.

PMID:
28807865
24.

Favorable results in ABO-incompatible renal transplantation without B cell-targeted therapy: Advantages and disadvantages of rituximab pretreatment.

Okada M, Watarai Y, Iwasaki K, Murotani K, Futamura K, Yamamoto T, Hiramitsu T, Tsujita M, Goto N, Narumi S, Takeda A, Morozumi K, Uchida K, Kobayashi T.

Clin Transplant. 2017 Oct;31(10). doi: 10.1111/ctr.13071. Epub 2017 Aug 29.

PMID:
28792635
25.

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

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.

Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3.

26.

Comparison of Three-Dimensional T1-Weighted Magnetic Resonance and Contrast-Enhanced Ultrasound Plaque Images for Severe Stenosis of the Cervical Carotid Artery.

Shimada Y, Oikawa K, Fujiwara S, Ogasawara Y, Sato Y, Narumi S, Kato T, Oura K, Terayama Y, Sasaki M, Fujimoto K, Yoshida J, Ogasawara K.

J Stroke Cerebrovasc Dis. 2017 Sep;26(9):1916-1922. doi: 10.1016/j.jstrokecerebrovasdis.2017.06.029. Epub 2017 Jul 14.

PMID:
28716586
27.

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

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

Endocr J. 2017 Aug 30;64(8):813-817. doi: 10.1507/endocrj.EJ17-0078. Epub 2017 Jul 28.

28.

Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S.

Endocr J. 2017 Aug 30;64(8):807-812. doi: 10.1507/endocrj.EJ16-0564. Epub 2017 Jul 16. Review.

29.

Surgical Techniques and Procedures for Kidney Transplant Recipients With Severe Atherosclerosis.

Nanmoku K, Watarai Y, Narumi S, Goto N, Yamamoto T, Tsujita M, Hiramitsu T, Katayama A, Kobayashi T, Uchida K.

Exp Clin Transplant. 2017 Dec;15(6):594-601. doi: 10.6002/ect.2016.0207. Epub 2017 Jun 16.

30.

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

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.

Pediatr Diabetes. 2018 Mar;19(2):243-250. doi: 10.1111/pedi.12544. Epub 2017 Jun 9.

PMID:
28597946
31.

Lifelong Prophylaxis With Trimethoprim-Sulfamethoxazole for Prevention of Outbreak of Pneumocystis jirovecii Pneumonia in Kidney Transplant Recipients.

Goto N, Takahashi-Nakazato A, Futamura K, Okada M, Yamamoto T, Tsujita M, Hiramitsu T, Narumi S, Tsuchiya K, Gatanaga H, Watarai Y, Oka S.

Transplant Direct. 2017 Apr 5;3(5):e151. doi: 10.1097/TXD.0000000000000665. eCollection 2017 May.

32.

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T.

Eur J Endocrinol. 2017 Aug;177(2):187-194. doi: 10.1530/EJE-17-0027. Epub 2017 May 25.

PMID:
28546232
33.

Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome.

Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, Izumi T, Narumi S, Hasegawa T, Ihara K.

Horm Res Paediatr. 2017;88(3-4):285-290. doi: 10.1159/000473878. Epub 2017 May 19.

PMID:
28528327
34.

Familial Mediterranean Fever developing in a Japanese kidney transplant recipient.

Yazawa M, Tsujita M, Goto N, Yamamoto T, Hiramitsu T, Ashimine S, Nanmoku K, Narumi S, Tominaga Y, Watarai Y.

CEN Case Rep. 2016 May;5(1):43-47. doi: 10.1007/s13730-015-0188-8. Epub 2015 Jul 20.

35.

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Hum Genome Var. 2017 Apr 13;4:17012. doi: 10.1038/hgv.2017.12. eCollection 2017.

36.

Preoperative cervical carotid artery contrast-enhanced ultrasound findings are associated with development of microembolic signals on transcranial Doppler during carotid exposure in endarterectomy.

Oikawa K, Kato T, Oura K, Narumi S, Sasaki M, Fujiwara S, Kobayashi M, Matsumoto Y, Nomura JI, Yoshida K, Terayama Y, Ogasawara K.

Atherosclerosis. 2017 May;260:87-93. doi: 10.1016/j.atherosclerosis.2017.03.026. Epub 2017 Mar 19.

37.

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

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.

J Cell Mol Med. 2017 Oct;21(10):2623-2626. doi: 10.1111/jcmm.13146. Epub 2017 Mar 24.

38.

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M.

Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3.

39.

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T.

Am J Med Genet A. 2017 Apr;173(4):1071-1076. doi: 10.1002/ajmg.a.38099. Epub 2017 Feb 12.

PMID:
28190287
40.

Efficacy of Eculizumab Therapy for Atypical Hemolytic Uremic Syndrome Recurrence and Antibody-Mediated Rejection Progress After Renal Transplantation With Preformed Donor-Specific Antibodies: Case Report.

Yamamoto T, Watarai Y, Futamura K, Okada M, Tsujita M, Hiramitsu T, Goto N, Narumi S, Takeda A, Kobayashi T.

Transplant Proc. 2017 Jan - Feb;49(1):159-162. doi: 10.1016/j.transproceed.2016.10.013.

PMID:
28104125
41.

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.

Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M.

Cytogenet Genome Res. 2016;150(2):86-92. doi: 10.1159/000455026. Epub 2017 Jan 19.

PMID:
28099951
42.

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Endocr J. 2017 Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22.

43.

T1-Weighted Magnetic Resonance Carotid Plaque Imaging: a Comparison between Conventional and Fast Spin-Echo Techniques.

Narumi S, Sasaki M, Miyazawa H, Natori T, Ito K, Ogasawara K, Kobayashi M, Hitomi J, Terayama Y.

J Stroke Cerebrovasc Dis. 2017 Feb;26(2):273-279. doi: 10.1016/j.jstrokecerebrovasdis.2016.09.017. Epub 2016 Nov 9.

PMID:
27838175
44.

Involvement of GluD2 in Fear-Conditioned Bradycardia in Mice.

Kotajima-Murakami H, Narumi S, Yuzaki M, Yanagihara D.

PLoS One. 2016 Nov 7;11(11):e0166144. doi: 10.1371/journal.pone.0166144. eCollection 2016.

45.

Preoperative 3D FSE T1-Weighted MR Plaque Imaging for Severely Stenotic Cervical ICA: Accuracy of Predicting Emboli during Carotid Endarterectomy.

Ogasawara Y, Sato Y, Narumi S, Sasaki M, Fujiwara S, Kobayashi M, Yoshida K, Terayama Y, Ogasawara K.

Int J Mol Sci. 2016 Oct 27;17(11). pii: E1791.

46.

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.

Clin Pediatr Endocrinol. 2016 Oct;25(4):127-134. Epub 2016 Oct 18.

47.

Impact of grafting using thin upper pole artery ligation on living-donor adult kidney transplantation: The STROBE study.

Hiramitsu T, Okada M, Futamura K, Yamamoto T, Tsujita M, Goto N, Narumi S, Watarai Y.

Medicine (Baltimore). 2016 Oct;95(42):e5188.

48.

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M.

Sex Dev. 2016;10(4):205-209. Epub 2016 Sep 21.

PMID:
27648561
49.

5-year follow-up of a randomized clinical study comparing everolimus plus reduced-dose cyclosporine with mycophenolate mofetil plus standard-dose cyclosporine in de novo kidney transplantation: Retrospective single center assessment.

Hiramitsu T, Okada M, Futamura K, Yamamoto T, Tsujita M, Goto N, Narumi S, Watarai Y, Takeda A, Iwasaki K, Uchida K, Kobayashi T.

Int Immunopharmacol. 2016 Oct;39:192-198. doi: 10.1016/j.intimp.2016.07.019. Epub 2016 Aug 2.

PMID:
27491025
50.

MiR-142-5p and miR-486-5p as biomarkers for early detection of chronic antibody-mediated rejection in kidney transplantation.

Iwasaki K, Yamamoto T, Inanaga Y, Hiramitsu T, Miwa Y, Murotani K, Narumi S, Watarai Y, Katayama A, Uchida K, Kobayashi T.

Biomarkers. 2017 Feb;22(1):45-54. doi: 10.1080/1354750X.2016.1204000. Epub 2016 Jul 7.

PMID:
27323802

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