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Items: 1 to 50 of 782

1.

Long-read sequencing for rare human genetic diseases.

Mitsuhashi S, Matsumoto N.

J Hum Genet. 2019 Sep 27. doi: 10.1038/s10038-019-0671-8. [Epub ahead of print]

PMID:
31558760
2.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Sep 17. doi: 10.1038/s10038-019-0667-4. [Epub ahead of print]

PMID:
31530938
3.

GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy.

Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F.

Ann Neurol. 2019 Aug 21. doi: 10.1002/ana.25586. [Epub ahead of print]

PMID:
31433517
4.

Assessing the Role of Urologists and General Surgeons in the Open Repair of Bladder Injuries: Analysis of a Large, Statewide Trauma Database.

Leong JY, Rshaidat H, Tham E, Mitsuhashi S, Chung PH.

J Trauma Acute Care Surg. 2019 Aug 5. doi: 10.1097/TA.0000000000002462. [Epub ahead of print]

PMID:
31389916
5.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N.

J Hum Genet. 2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z. Epub 2019 Jul 23.

PMID:
31337854
6.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.

Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G.

Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22.

PMID:
31332381
7.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.

J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4.

PMID:
31270375
8.

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N.

J Hum Genet. 2019 Sep;64(9):955-960. doi: 10.1038/s10038-019-0631-3. Epub 2019 Jun 18.

PMID:
31213653
9.

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N.

Neurology. 2019 Jul 16;93(3):e237-e251. doi: 10.1212/WNL.0000000000007774. Epub 2019 Jun 13.

PMID:
31197031
10.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.

Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

11.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N.

Arthritis Res Ther. 2019 Jun 4;21(1):137. doi: 10.1186/s13075-019-1928-5.

12.

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.

J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20.

PMID:
31110234
13.

Emergency department visits for depression in the United States from 2006 to 2014.

Ballou S, Mitsuhashi S, Sankin LS, Petersen TS, Zubiago J, Lembo C, Takazawa E, Katon J, Sommers T, Hirsch W, Rangan V, Jones M.

Gen Hosp Psychiatry. 2019 Jul - Aug;59:14-19. doi: 10.1016/j.genhosppsych.2019.04.015. Epub 2019 Apr 24.

PMID:
31078012
14.

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.

J Hum Genet. 2019 Jul;64(7):647-652. doi: 10.1038/s10038-019-0596-2. Epub 2019 Apr 15.

PMID:
30988409
15.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N.

Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066.

PMID:
30985895
16.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N.

Genome Biol. 2019 Mar 19;20(1):58. doi: 10.1186/s13059-019-1667-6.

17.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N.

J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6.

PMID:
30842224
18.

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N.

J Hum Genet. 2019 May;64(5):487-492. doi: 10.1038/s10038-019-0571-y. Epub 2019 Feb 14.

PMID:
30765867
19.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2019 Apr;64(4):347-350. doi: 10.1038/s10038-018-0556-2. Epub 2019 Jan 9.

PMID:
30626896
20.

Myocardin Is Involved in Mesothelial-Mesenchymal Transition of Human Pleural Mesothelial Cells.

Tucker T, Tsukasaki Y, Sakai T, Mitsuhashi S, Komatsu S, Jeffers A, Idell S, Ikebe M.

Am J Respir Cell Mol Biol. 2019 Jul;61(1):86-96. doi: 10.1165/rcmb.2018-0121OC.

PMID:
30605348
21.

Correction: GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Mar;64(3):269. doi: 10.1038/s10038-018-0547-3.

PMID:
30585253
22.

SOFT syndrome in a patient from Chile.

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N.

Am J Med Genet A. 2019 Mar;179(3):338-340. doi: 10.1002/ajmg.a.61015. Epub 2018 Dec 20.

PMID:
30569574
23.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.

Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.

PMID:
30487643
24.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.

Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23.

PMID:
30467404
25.

Repurposing existing drugs: identification of irreversible IMPDH inhibitors by high-throughput screening.

Sarwono AEY, Mitsuhashi S, Kabir MHB, Shigetomi K, Okada T, Ohsaka F, Otsuguro S, Maenaka K, Igarashi M, Kato K, Ubukata M.

J Enzyme Inhib Med Chem. 2019 Dec;34(1):171-178. doi: 10.1080/14756366.2018.1540474.

26.

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 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30.

PMID:
30412317
27.

Prevalence of Chronic Constipation and Chronic Diarrhea in Diabetic Individuals in the United States.

Sommers T, Mitsuhashi S, Singh P, Hirsch W, Katon J, Ballou S, Rangan V, Cheng V, Friedlander D, Iturrino J, Lembo A, Nee J.

Am J Gastroenterol. 2019 Jan;114(1):135-142. doi: 10.1038/s41395-018-0418-8.

PMID:
30410038
28.

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Jan;64(1):11-16. doi: 10.1038/s10038-018-0525-9. Epub 2018 Nov 2. Erratum in: J Hum Genet. 2018 Dec 26;:.

PMID:
30390020
29.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB.

Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.

PMID:
30345904
30.

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 Dec;94(6):538-547. doi: 10.1111/cge.13454.

PMID:
30280376
31.

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 Dec;63(12):1223-1229. doi: 10.1038/s10038-018-0516-x. Epub 2018 Sep 27.

PMID:
30258207
32.

Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis.

Watanabe N, Kryukov K, Nakagawa S, Takeuchi JS, Takeshita M, Kirimura Y, Mitsuhashi S, Ishihara T, Aoki H, Inokuchi S, Imanishi T, Inoue S.

PLoS One. 2018 Aug 15;13(8):e0202049. doi: 10.1371/journal.pone.0202049. eCollection 2018.

33.

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.

Hum Mol Genet. 2018 Dec 1;27(23):4024-4035. doi: 10.1093/hmg/ddy293.

34.

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 Dec;94(6):548-553. doi: 10.1111/cge.13423. Epub 2018 Sep 3.

PMID:
30051457
35.

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
36.

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
37.

Identification of a novel bacteriocin-like protein and structural gene from Rhodococcus erythropolis JCM 2895, using suppression-subtractive hybridization.

Kitagawa W, Mitsuhashi S, Hata M, Tamura T.

J Antibiot (Tokyo). 2018 Oct;71(10):872-879. doi: 10.1038/s41429-018-0078-3. Epub 2018 Jul 6.

PMID:
29980745
38.

Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.

Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y.

FASEB J. 2018 Sep;32(9):5012-5025. doi: 10.1096/fj.201701264R. Epub 2018 Apr 13.

PMID:
29913553
39.

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
40.

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
41.

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
42.

Role of Inner Speech on Serial Recall in Children with ASD: A Pilot Study Using the Luria Hand Test.

Mitsuhashi S, Hirata S, Okuzumi H.

Autism Res Treat. 2018 Mar 14;2018:6873412. doi: 10.1155/2018/6873412. eCollection 2018.

43.

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E.

J Neuromuscul Dis. 2018;5(2):193-203. doi: 10.3233/JND-170225.

44.

Demographic and Dietary Associations of Chronic Diarrhea in a Representative Sample of Adults in the United States.

Singh P, Mitsuhashi S, Ballou S, Rangan V, Sommers T, Cheng V, Iturrino-Moreda J, Friedlander D, Nee J, Lembo A.

Am J Gastroenterol. 2018 Apr;113(4):593-600. doi: 10.1038/ajg.2018.24. Epub 2018 Mar 6.

PMID:
29610515
45.

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
46.

Risk Factors for Fecal Urgency Among Individuals With and Without Diarrhea, Based on Data From the National Health and Nutrition Examination Survey.

Rangan V, Mitsuhashi S, Singh P, Ballou S, Hirsch W, Sommers T, Nee J, Iturrino J, Lembo A.

Clin Gastroenterol Hepatol. 2018 Sep;16(9):1450-1458.e2. doi: 10.1016/j.cgh.2018.02.020. Epub 2018 Feb 21.

47.

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
48.

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
49.

Higher serum vitamin D levels are associated with protective serum cytokine profiles in patients with ulcerative colitis.

Gubatan J, Mitsuhashi S, Longhi MS, Zenlea T, Rosenberg L, Robson S, Moss AC.

Cytokine. 2018 Mar;103:38-45. doi: 10.1016/j.cyto.2017.12.023. Epub 2018 Jan 8.

50.

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.

Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I.

Neuromuscul Disord. 2018 Feb;28(2):154-157. doi: 10.1016/j.nmd.2017.11.003. Epub 2017 Nov 22.

PMID:
29307446

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