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Items: 1 to 50 of 98

1.

Gain-of-function IKBKB mutation causes human combined immune deficiency.

Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC.

J Exp Med. 2018 Nov 5;215(11):2715-2724. doi: 10.1084/jem.20180639. Epub 2018 Oct 18.

PMID:
30337470
2.

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, Ichinose Y, Shimada A, Hashimoto K, Wada T, Imai K, Ohara O, Morio T, Nonoyama S, Kobayashi M.

Front Immunol. 2018 Apr 5;9:568. doi: 10.3389/fimmu.2018.00568. eCollection 2018.

3.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

PMID:
29474921
4.

Evaluation of a new and simple classification for endoscopic sinus surgery.

Kanai K, Okano M, Haruna T, Higaki T, Omichi R, Makihara SI, Tsumura M, Kariya S, Hirata Y, Nishizaki K.

Allergy Rhinol (Providence). 2017 Oct 1;8(3):118-125. doi: 10.2500/ar.2017.8.0208.

5.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31.

PMID:
28801073
6.

Time-Reversal Measurement of the p-Wave Cross Sections of the ^{7}Be(n,α)^{4}He Reaction for the Cosmological Li Problem.

Kawabata T, Fujikawa Y, Furuno T, Goto T, Hashimoto T, Ichikawa M, Itoh M, Iwasa N, Kanada-En'yo Y, Koshikawa A, Kubono S, Miyawaki E, Mizuno M, Mizutani K, Morimoto T, Murata M, Nanamura T, Nishimura S, Okamoto S, Sakaguchi Y, Sakata I, Sakaue A, Sawada R, Shikata Y, Takahashi Y, Takechi D, Takeda T, Takimoto C, Tsumura M, Watanabe K, Yoshida S.

Phys Rev Lett. 2017 Feb 3;118(5):052701. doi: 10.1103/PhysRevLett.118.052701. Epub 2017 Feb 3.

PMID:
28211732
7.

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.

J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20.

8.

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H.

J Allergy Clin Immunol. 2017 Jul;140(1):223-231. doi: 10.1016/j.jaci.2016.09.029. Epub 2016 Dec 6.

PMID:
27939403
9.

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21.

PMID:
27856190
10.

A Study of Cases of Brainstem/cerebellar Infarction Detected as False Negatives by Initial MRI.

Uraguchi K, Kariya S, Oka A, Tsumura M, Ishihara H, Miyatake T, Hirata Y, Makihara S, Nishizaki K.

Nihon Jibiinkoka Gakkai Kaiho. 2016 Oct;119(10):1290-9. Japanese.

PMID:
30035932
11.

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, Ohno Y, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.

Mol Genet Metab. 2016 May;118(1):9-14. doi: 10.1016/j.ymgme.2015.12.011. Epub 2015 Dec 29.

PMID:
26947917
12.

Candidate Resonant Tetraneutron State Populated by the ^{4}He(^{8}He,^{8}Be) Reaction.

Kisamori K, Shimoura S, Miya H, Michimasa S, Ota S, Assie M, Baba H, Baba T, Beaumel D, Dozono M, Fujii T, Fukuda N, Go S, Hammache F, Ideguchi E, Inabe N, Itoh M, Kameda D, Kawase S, Kawabata T, Kobayashi M, Kondo Y, Kubo T, Kubota Y, Kurata-Nishimura M, Lee CS, Maeda Y, Matsubara H, Miki K, Nishi T, Noji S, Sakaguchi S, Sakai H, Sasamoto Y, Sasano M, Sato H, Shimizu Y, Stolz A, Suzuki H, Takaki M, Takeda H, Takeuchi S, Tamii A, Tang L, Tokieda H, Tsumura M, Uesaka T, Yako K, Yanagisawa Y, Yokoyama R, Yoshida K.

Phys Rev Lett. 2016 Feb 5;116(5):052501. doi: 10.1103/PhysRevLett.116.052501. Epub 2016 Feb 3.

PMID:
26894705
13.

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M.

J Clin Immunol. 2016 Jan;36(1):28-32. doi: 10.1007/s10875-015-0221-x. Epub 2015 Dec 8.

PMID:
26644313
14.

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Kataoka S, Muramatsu H, Okuno Y, Hayashi Y, Mizoguchi Y, Tsumura M, Okada S, Kobayashi M, Sano C, Sato H, Oh-Iwa I, Ito M, Kojima D, Hama A, Takahashi Y, Kojima S.

J Allergy Clin Immunol. 2016 Feb;137(2):619-622.e1. doi: 10.1016/j.jaci.2015.06.028. Epub 2015 Aug 1. No abstract available.

PMID:
26242301
15.

Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.

Hirata O, Okada S, Tsumura M, Karakawa S, Matsumura I, Kimura Y, Maihara T, Yasunaga S, Takihara Y, Ohara O, Kobayashi M.

J Clin Immunol. 2015 Jul;35(5):512-6. doi: 10.1007/s10875-015-0165-1. Epub 2015 Apr 26.

PMID:
25912133
16.

Plasma membrane stretch activates transient receptor potential vanilloid and ankyrin channels in Merkel cells from hamster buccal mucosa.

Soya M, Sato M, Sobhan U, Tsumura M, Ichinohe T, Tazaki M, Shibukawa Y.

Cell Calcium. 2014 Apr;55(4):208-18. doi: 10.1016/j.ceca.2014.02.015. Epub 2014 Feb 28.

PMID:
24642224
17.

Functional expression of TRPM8 and TRPA1 channels in rat odontoblasts.

Tsumura M, Sobhan U, Sato M, Shimada M, Nishiyama A, Kawaguchi A, Soya M, Kuroda H, Tazaki M, Shibukawa Y.

PLoS One. 2013 Dec 16;8(12):e82233. doi: 10.1371/journal.pone.0082233. eCollection 2013.

18.

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.

J Leukoc Biol. 2014 Apr;95(4):667-76. doi: 10.1189/jlb.0513250. Epub 2013 Dec 16.

19.

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.

Yamamoto A, Nakamura K, Matsumoto S, Iwai M, Shigematsu Y, Tajima G, Tsumura M, Okada S, Mitsubuchi H, Endo F.

Pediatr Int. 2013 Dec;55(6):775-8. doi: 10.1111/ped.12111.

PMID:
24330285
20.

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

Deenick EK, Avery DT, Chan A, Berglund LJ, Ives ML, Moens L, Stoddard JL, Bustamante J, Boisson-Dupuis S, Tsumura M, Kobayashi M, Arkwright PD, Averbuch D, Engelhard D, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Klein C, Holland SM, Uzel G, Casanova JL, Ma CS, Tangye SG.

J Exp Med. 2013 Nov 18;210(12):2739-53. doi: 10.1084/jem.20130323. Epub 2013 Nov 11.

21.

Immunolocalization and distribution of functional temperature-sensitive TRP channels in salivary glands.

Sobhan U, Sato M, Shinomiya T, Okubo M, Tsumura M, Muramatsu T, Kawaguchi M, Tazaki M, Shibukawa Y.

Cell Tissue Res. 2013 Nov;354(2):507-19. doi: 10.1007/s00441-013-1691-x. Epub 2013 Aug 15.

PMID:
23942896
22.

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

Ives ML, Ma CS, Palendira U, Chan A, Bustamante J, Boisson-Dupuis S, Arkwright PD, Engelhard D, Averbuch D, Magdorf K, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Tsumura M, Kobayashi M, Uzel G, Casanova JL, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2013 Aug;132(2):400-11.e9. doi: 10.1016/j.jaci.2013.05.029. Epub 2013 Jul 4.

23.

Hypotonic-induced stretching of plasma membrane activates transient receptor potential vanilloid channels and sodium-calcium exchangers in mouse odontoblasts.

Sato M, Sobhan U, Tsumura M, Kuroda H, Soya M, Masamura A, Nishiyama A, Katakura A, Ichinohe T, Tazaki M, Shibukawa Y.

J Endod. 2013 Jun;39(6):779-87. doi: 10.1016/j.joen.2013.01.012. Epub 2013 Mar 15.

PMID:
23683279
24.

Sodium-calcium exchangers in rat trigeminal ganglion neurons.

Kuroda H, Sobhan U, Sato M, Tsumura M, Ichinohe T, Tazaki M, Shibukawa Y.

Mol Pain. 2013 Apr 29;9:22. doi: 10.1186/1744-8069-9-22.

25.

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Hirata O, Okada S, Tsumura M, Kagawa R, Miki M, Kawaguchi H, Nakamura K, Boisson-Dupuis S, Casanova JL, Takihara Y, Kobayashi M.

Haematologica. 2013 Oct;98(10):1641-9. doi: 10.3324/haematol.2013.083741. Epub 2013 Apr 12.

26.

Adrenomedullin facilitates calcium channel currents in osteoblasts.

Tazaki M, Endoh T, Kobayashi H, Nobushima H, Shibukawa Y, Tsumura M, Sato M, Ubaidus S, Sueishi K.

Bull Tokyo Dent Coll. 2012;53(4):203-6.

27.

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.

Kobayashi Y, Matsui H, Kanai A, Tsumura M, Okada S, Miki M, Nakamura K, Kunishima S, Inaba T, Kobayashi M.

Br J Haematol. 2013 Feb;160(4):521-9. doi: 10.1111/bjh.12160. Epub 2012 Dec 17.

PMID:
23253071
28.

[A case of pathologically complete response of esophageal carcinoma treated with low-dose 5-FU/CDDP as neoadjuvant chemotherapy].

Kobayashi M, Kishi M, Taniguchi F, Kuwata K, Watanabe N, Kimura K, Kokudo Y, Muraoka A, Tatemoto A, Tsumura M.

Gan To Kagaku Ryoho. 2012 Nov;39(11):1715-8. Japanese.

PMID:
23152026
29.

Voltage-dependent sodium channels and calcium-activated potassium channels in human odontoblasts in vitro.

Ichikawa H, Kim HJ, Shuprisha A, Shikano T, Tsumura M, Shibukawa Y, Tazaki M.

J Endod. 2012 Oct;38(10):1355-62. doi: 10.1016/j.joen.2012.06.015. Epub 2012 Jul 25.

PMID:
22980177
30.

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

Kobayashi Y, Ishikawa N, Tsumura M, Fujii Y, Okada S, Shigematsu Y, Kobayashi M.

Brain Dev. 2013 May;35(5):449-53. doi: 10.1016/j.braindev.2012.06.013. Epub 2012 Jul 31.

PMID:
22854105
31.

TRPV1-mediated calcium signal couples with cannabinoid receptors and sodium-calcium exchangers in rat odontoblasts.

Tsumura M, Sobhan U, Muramatsu T, Sato M, Ichikawa H, Sahara Y, Tazaki M, Shibukawa Y.

Cell Calcium. 2012 Aug;52(2):124-36. doi: 10.1016/j.ceca.2012.05.002. Epub 2012 May 30.

PMID:
22656960
32.

[A case of gastric cancer with rhabdoid features showing better prognosis through S-1/CDDP chemotherapy].

Mori Y, Kobayashi M, Ishihara S, Mizobuchi K, Kishi M, Kurosaki T, Miyake S, Watanabe N, Kimura K, Kokudo Y, Muraoka A, Tatemoto A, Nagasaka T, Tsumura M.

Gan To Kagaku Ryoho. 2012 May;39(5):829-32. Review. Japanese.

PMID:
22584342
33.

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M.

Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7.

34.

Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.

Karakawa S, Okada S, Tsumura M, Mizoguchi Y, Ohno N, Yasunaga S, Ohtsubo M, Kawai T, Nishikomori R, Sakaguchi T, Takihara Y, Kobayashi M.

J Clin Immunol. 2011 Oct;31(5):762-72. doi: 10.1007/s10875-011-9560-4. Epub 2011 Jul 1.

PMID:
21720903
35.

Topical review. Dental pain and odontoblasts: facts and hypotheses.

Magloire H, Maurin JC, Couble ML, Shibukawa Y, Tsumura M, Thivichon-Prince B, Bleicher F.

J Orofac Pain. 2010 Fall;24(4):335-49. Review.

PMID:
21197505
36.

Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential.

Ohno Y, Yasunaga S, Ohtsubo M, Mori S, Tsumura M, Okada S, Ohta T, Ohtani K, Kobayashi M, Takihara Y.

Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21529-34. doi: 10.1073/pnas.1011054107. Epub 2010 Nov 22.

37.

Calcitonin gene-related peptide- and adrenomedullin-induced facilitation of calcium current in submandibular ganglion.

Endoh T, Shibukawa Y, Tsumura M, Ichikawa H, Tazaki M, Inoue T.

Arch Oral Biol. 2011 Feb;56(2):187-93. doi: 10.1016/j.archoralbio.2010.09.015. Epub 2010 Oct 15.

PMID:
20951369
38.

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.

Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Review.

PMID:
20376488
39.

Ca2+ extrusion via Na+-Ca2+ exchangers in rat odontoblasts.

Tsumura M, Okumura R, Tatsuyama S, Ichikawa H, Muramatsu T, Matsuda T, Baba A, Suzuki K, Kajiya H, Sahara Y, Tokuda M, Momose Y, Tazaki M, Shimono M, Shibukawa Y.

J Endod. 2010 Apr;36(4):668-74. doi: 10.1016/j.joen.2010.01.006.

PMID:
20307742
40.

Calcitonin gene-related peptide- and adrenomedullin-induced facilitation of calcium current by different signal pathways in nucleus tractus solitarius.

Hosokawa S, Endoh T, Shibukawa Y, Tsumura M, Ichikawa H, Tazaki M, Furusawa M.

Brain Res. 2010 Apr 23;1327:47-55. doi: 10.1016/j.brainres.2010.02.006. Epub 2010 Feb 10.

PMID:
20149783
41.

Correlation between a reduction in Frontal Assessment Battery scores and delusional thoughts in patients with Alzheimer's disease.

Nagata T, Ishii K, Ito T, Aoki K, Ehara Y, Kada H, Furukawa H, Tsumura M, Shinagawa S, Kasahara H, Nakayama K.

Psychiatry Clin Neurosci. 2009 Aug;63(4):449-54. doi: 10.1111/j.1440-1819.2009.01968.x. Epub 2009 Apr 29. Erratum in: Psychiatry Clin Neurosci. 2009 Oct;63(5):704. Kada, Hidehiro [corrected to Kada, Hirohide].

42.

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

Okada S, Konishi N, Tsumura M, Shirao K, Yasunaga S, Sakai H, Nishikomori R, Takihara Y, Kobayashi M.

Rheumatology (Oxford). 2009 Jun;48(6):706-7. doi: 10.1093/rheumatology/kep061. Epub 2009 Apr 9. No abstract available.

PMID:
19359344
43.

Electrophysiological properties of AQP6 in mouse parotid acinar cells.

Ichikawa H, Shibukawa Y, Sahara Y, Tsumura M, Qi B, Satoh K, Narita T, Hashimoto S, Momose Y, Tazaki M, Shimono M, Sugiya H.

J Med Invest. 2009;56 Suppl:347-9.

44.

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.

Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M.

Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44.

PMID:
18670371
45.

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.

Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y.

Proc Natl Acad Sci U S A. 2008 Jul 29;105(30):10396-401. doi: 10.1073/pnas.0800672105. Epub 2008 Jul 23.

46.

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.

J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.

PMID:
18611981
47.

Acoustic technology for high-performance disruption and extraction of plant proteins.

Toorchi M, Nouri MZ, Tsumura M, Komatsu S.

J Proteome Res. 2008 Jul;7(7):3035-41. doi: 10.1021/pr800012c. Epub 2008 Jun 11.

PMID:
18543963
48.

Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.

Matsubara K, Imai K, Okada S, Miki M, Ishikawa N, Tsumura M, Kato T, Ohara O, Nonoyama S, Kobayashi M.

Haematologica. 2007 Dec;92(12):e123-5.

49.

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M.

J Med Genet. 2007 Aug;44(8):485-91. Epub 2007 May 18. Erratum in: J Med Genet. 2007 Oct;44(10):628.

50.

Ureteral metastasis from appendiceal cancer: report of a case.

Katsuno G, Kagawa S, Kokudo Y, Muraoka A, Tatemoto A, Sone Y, Tsumura M, Tsuruno M, Mizobuchi K.

Surg Today. 2005;35(2):168-71. Review.

PMID:
15674503

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