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Items: 1 to 50 of 285

1.

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
2.

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 Apr 1. pii: S0198-8859(18)30085-5. doi: 10.1016/j.humimm.2018.03.012. [Epub ahead of print]

PMID:
29614336
3.

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
4.

Rare monogenic causes of primary adrenal insufficiency.

Narumi S.

Curr Opin Endocrinol Diabetes Obes. 2018 Jan 25. doi: 10.1097/MED.0000000000000401. [Epub ahead of print]

PMID:
29373482
5.

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.

6.

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
7.

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
8.

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, J├╝hlen 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
9.

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
10.

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
11.

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.

12.

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
13.

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
14.

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
15.

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
16.

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.

17.

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
18.

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.

19.

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.

20.

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.

21.

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
22.

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.

23.

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
24.

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
25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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
31.

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
32.

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
33.

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.

34.

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
35.

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.

36.

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.

37.

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.

38.

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.

39.

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
40.

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
41.

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
42.

Safety and Effectiveness of Marginal Donor in Living Kidney Transplantation.

Oikawa M, Hatakeyama S, Narita T, Yamamoto H, Hosogoe S, Imai A, Yoneyama T, Hashimoto Y, Koie T, Fujita T, Murakami R, Saitoh H, Funyu T, Narumi S, Ohyama C.

Transplant Proc. 2016 Apr;48(3):701-5. doi: 10.1016/j.transproceed.2015.09.067.

PMID:
27234717
43.

A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.

Clin Endocrinol (Oxf). 2016 Oct;85(4):669-71. doi: 10.1111/cen.13116. Epub 2016 Jun 30. No abstract available.

PMID:
27234692
44.

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T.

Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16.

PMID:
27182967
45.

Intracranial Plaque Characterization in Patients with Acute Ischemic Stroke Using Pre- and Post-Contrast Three-Dimensional Magnetic Resonance Vessel Wall Imaging.

Natori T, Sasaki M, Miyoshi M, Ito K, Ohba H, Miyazawa H, Narumi S, Kabasawa H, Harada T, Terayama Y.

J Stroke Cerebrovasc Dis. 2016 Jun;25(6):1425-30. doi: 10.1016/j.jstrokecerebrovasdis.2015.12.032. Epub 2016 Mar 22.

PMID:
27021042
46.

Reviewing the pathogenesis of antibody-mediated rejection and renal graft pathology after kidney transplantation.

Morozumi K, Takeda A, Otsuka Y, Horike K, Gotoh N, Narumi S, Watarai Y, Kobayashi T.

Nephrology (Carlton). 2016 Jul;21 Suppl 1:4-8. doi: 10.1111/nep.12777. Review.

PMID:
26971899
47.

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone.

Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T.

Clin Pediatr Endocrinol. 2016 Jan;25(1):19-22. doi: 10.1297/cpe.25.19. Epub 2016 Jan 30. No abstract available.

48.

Optimal MR Plaque Imaging for Cervical Carotid Artery Stenosis in Predicting the Development of Microembolic Signals during Exposure of Carotid Arteries in Endarterectomy: Comparison of 4 T1-Weighted Imaging Techniques.

Sato Y, Ogasawara K, Narumi S, Sasaki M, Saito A, Tsushima E, Namba T, Kobayashi M, Yoshida K, Terayama Y, Ogawa A.

AJNR Am J Neuroradiol. 2016 Jun;37(6):1146-54. doi: 10.3174/ajnr.A4674. Epub 2016 Feb 4.

49.

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. No abstract available.

PMID:
26788936
50.

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T.

Endocr J. 2016 Apr 25;63(4):405-10. doi: 10.1507/endocrj.EJ15-0409. Epub 2016 Jan 15.

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