Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 502

1.

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.

Okuzono S, Fukai R, Noda M, Miyake N, Lee S, Kaku N, Sanefuji M, Akamine S, Kanno S, Ishizaki Y, Torisu H, Kira R, Matsumoto N, Sakai Y, Ohga S.

Brain Dev. 2018 Nov 7. pii: S0387-7604(18)30187-6. doi: 10.1016/j.braindev.2018.10.012. [Epub ahead of print]

PMID:
30414707
2.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N.

Ann Neurol. 2018 Nov 9. doi: 10.1002/ana.25367. [Epub ahead of print]

PMID:
30412317
3.

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N.

Clin Genet. 2018 Oct 3. doi: 10.1111/cge.13454. [Epub ahead of print]

PMID:
30280376
4.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Sep 27. doi: 10.1038/s10038-018-0516-x. [Epub ahead of print]

PMID:
30258207
5.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0259-2. [Epub ahead of print]

PMID:
30245513
6.

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.

Am J Med Genet A. 2018 Sep 23. doi: 10.1002/ajmg.a.40479. [Epub ahead of print]

PMID:
30244542
7.

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.

Yano S, Fujimoto A, Morin-Leisk J, Matumoto N, Miyake N, Gillespie M, Gao H.

Clin Genet. 2018 Nov;94(5):487-488. doi: 10.1111/cge.13436. Epub 2018 Sep 12. No abstract available.

PMID:
30209809
8.

Screening of known disease genes in congenital scoliosis.

Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.

Mol Genet Genomic Med. 2018 Sep 9. doi: 10.1002/mgg3.466. [Epub ahead of print]

9.

Clinical efficacy of novel elastography using acoustic radiation force impulse (ARFI) for diagnosis of malignant thyroid nodules.

Fukuhara T, Matsuda E, Donishi R, Koyama S, Miyake N, Fujiwara K, Takeuchi H.

Laryngoscope Investig Otolaryngol. 2018 Aug 9;3(4):319-325. doi: 10.1002/lio2.165. eCollection 2018 Aug.

10.

Preoperative predictors of difficult hypopharyngeal exposure by retractor for transoral robotic surgery.

Fujiwara K, Koyama S, Donishi R, Fukuhara T, Miyake N, Takeuchi H.

Int J Clin Oncol. 2018 Aug 13. doi: 10.1007/s10147-018-1335-y. [Epub ahead of print]

PMID:
30101389
11.

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N.

Hum Genome Var. 2018 Jul 19;5:18. doi: 10.1038/s41439-018-0020-z. eCollection 2018.

12.

Immunohistochemical Features of Primary Pure Squamous Cell Carcinoma in the Thyroid: An Autopsy Case.

Koyama S, Fujiwara K, Nosaka K, Fukuhara T, Morisaki T, Miyake N, Kitano H, Takeuchi H.

Case Rep Oncol. 2018 Jun 28;11(2):418-424. doi: 10.1159/000490410. eCollection 2018 May-Aug.

13.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

PMID:
30057029
14.

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

Hyun HS, Kim SH, Park E, Cho MH, Kang HG, Lee HS, Miyake N, Matsumoto N, Tsukaguchi H, Cheong HI.

BMC Med Genet. 2018 Jul 27;19(1):131. doi: 10.1186/s12881-018-0649-y.

15.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T.

Clin Genet. 2018 Jul 26. doi: 10.1111/cge.13423. [Epub ahead of print]

PMID:
30051457
16.

Lenvatinib for Anaplastic Thyroid Cancer and Lenvatinib-Induced Thyroid Dysfunction.

Koyama S, Miyake N, Fujiwara K, Morisaki T, Fukuhara T, Kitano H, Takeuchi H.

Eur Thyroid J. 2018 Jun;7(3):139-144. doi: 10.1159/000485972. Epub 2018 Feb 21.

17.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PMID:
30019515
18.

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17.

PMID:
30018422
19.

Gastrointestinal Graft-versus-Host Disease Is a Risk Factor for Postengraftment Bloodstream Infection in Allogeneic Hematopoietic Stem Cell Transplant Recipients.

Mori Y, Yoshimoto G, Nishida R, Sugio T, Miyawaki K, Shima T, Nagasaki Y, Miyake N, Harada Y, Kunisaki Y, Kamezaki K, Numata A, Kato K, Shiratsuchi M, Maeda T, Takenaka K, Iwasaki H, Shimono N, Akashi K, Miyamoto T.

Biol Blood Marrow Transplant. 2018 Jun 15. pii: S1083-8791(18)30314-8. doi: 10.1016/j.bbmt.2018.06.002. [Epub ahead of print]

PMID:
29909153
20.

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.

Clin Genet. 2018 Oct;94(3-4):391-392. doi: 10.1111/cge.13378. Epub 2018 Jun 10.

PMID:
29888467
21.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.

J Hum Genet. 2018 Sep;63(9):1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8.

PMID:
29884795
22.

PRUNE1-related disorder: Expanding the clinical spectrum.

Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.

Clin Genet. 2018 Oct;94(3-4):362-367. doi: 10.1111/cge.13385. Epub 2018 Jun 26.

PMID:
29797509
23.

A novel 8-bp duplication in ADAT3 causes mild intellectual disability.

Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M.

Hum Genome Var. 2018 May 21;5:7. doi: 10.1038/s41439-018-0007-9. eCollection 2018.

24.

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.

Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N.

Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. No abstract available.

PMID:
29782645
25.

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H.

Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25.

PMID:
29768694
26.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Jul;84(1):159-161. doi: 10.1002/ana.25256. Epub 2018 Jul 30. No abstract available.

PMID:
29740860
27.

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.

Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F.

Clin Genet. 2018 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8.

PMID:
29700822
28.

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.

Brain Dev. 2018 Aug;40(7):566-569. doi: 10.1016/j.braindev.2018.03.012. Epub 2018 Apr 17.

PMID:
29678278
29.

Image Quality of the Coronary Angiography with Noise Reduction Technology to Decrease the Radiation Dose.

Kumashiro M, Kataoka T, Yokota S, Nakagawa S, Otsuki K, Miyake N, Osumi S, Yamaoka K.

Acta Med Okayama. 2018 Apr;72(2):153-164. doi: 10.18926/AMO/55856.

30.

Evaluation of antigen-positive toxin-negative enzyme immunoassay results for the diagnosis of toxigenic Clostridium difficile infection.

Akamatsu Y, Morishita S, Chikumi H, Okamoto R, Okada K, Kitaura T, Miyake N, Yamaguchi K, Nakamoto M, Shimohiro H, Takata M, Yamasaki A, Burioka N, Shimizu E.

J Med Invest. 2018;65(1.2):131-135. doi: 10.2152/jmi.65.131.

31.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I.

Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22.

32.

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.

J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22.

PMID:
29568001
33.

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H.

Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar.

34.

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.

PMID:
29534297
35.

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Sakaguchi T, Žigman T, Petković Ramadža D, Omerza L, Pušeljić S, Ereš Hrvaćanin Z, Miyake N, Matsumoto N, Barić I.

Hum Genome Var. 2018 Mar 8;5:18005. doi: 10.1038/hgv.2018.5. eCollection 2018.

36.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S.

Eur J Med Genet. 2018 Mar 3. pii: S1769-7212(17)30774-7. doi: 10.1016/j.ejmg.2018.03.003. [Epub ahead of print]

PMID:
29510241
37.

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A.

J Hum Genet. 2018 May;63(5):673-676. doi: 10.1038/s10038-018-0421-3. Epub 2018 Feb 28. Review.

PMID:
29491473
38.

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S.

J Pediatr Hematol Oncol. 2018 Jul;40(5):391-394. doi: 10.1097/MPH.0000000000001111.

PMID:
29489735
39.

The second point mutation in PREPL: a case report and literature review.

Silva S, Miyake N, Tapia C, Matsumoto N.

J Hum Genet. 2018 May;63(5):677-681. doi: 10.1038/s10038-018-0426-y. Epub 2018 Feb 26. Review.

PMID:
29483676
40.

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.

Am J Hum Genet. 2018 Mar 1;102(3):480-486. doi: 10.1016/j.ajhg.2018.01.019. Epub 2018 Feb 15.

41.

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N.

J Hum Genet. 2018 Apr;63(4):425-430. doi: 10.1038/s10038-018-0410-6. Epub 2018 Feb 13.

PMID:
29440706
42.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N.

Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.

PMID:
29432562
43.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N.

J Hum Genet. 2018 Apr;63(4):487-491. doi: 10.1038/s10038-017-0404-9. Epub 2018 Feb 6.

PMID:
29410513
44.

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F.

J Hum Genet. 2018 Apr;63(4):417-423. doi: 10.1038/s10038-017-0408-5. Epub 2018 Feb 5.

PMID:
29403087
45.

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H.

Am J Hum Genet. 2018 Jan 26. pii: S0002-9297(18)30004-1. doi: 10.1016/j.ajhg.2018.01.004. [Epub ahead of print]

46.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N.

J Hum Genet. 2018 Apr;63(4):529-532. doi: 10.1038/s10038-017-0399-2. Epub 2018 Jan 23. Review.

PMID:
29362492
47.

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T.

Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23.

PMID:
29359444
48.

[Optimal Conditions for 3D Non-contrast T1-weighted Magnetic Resonance Imaging Segmented Turbo Fast Low-angle Shot for Tissue Characterization of Coronary Plaques].

Sato S, Miyake N.

Nihon Hoshasen Gijutsu Gakkai Zasshi. 2018;74(1):48-60. doi: 10.6009/jjrt.2018_JSRT_74.1.48. Japanese.

49.

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Takata A, Miyake N, Tsurusaki Y, 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.

Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074.

50.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Mar;63(3):263-270. doi: 10.1038/s10038-017-0405-8. Epub 2018 Jan 16.

PMID:
29339779

Supplemental Content

Loading ...
Support Center