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Items: 1 to 50 of 482

1.

Gastrointestinal graft-versus-host disease is a risk factor for post-engraftment blood stream 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 14. pii: S1083-8791(18)30314-8. doi: 10.1016/j.bbmt.2018.06.002. [Epub ahead of print]

PMID:
29909153
2.

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 Jun 10. doi: 10.1111/cge.13378. [Epub ahead of print]

PMID:
29888467
3.

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 Jun 8. doi: 10.1038/s10038-018-0473-4. [Epub ahead of print]

PMID:
29884795
4.

PRUNE1-related rerlated 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 May 24. doi: 10.1111/cge.13385. [Epub ahead of print]

PMID:
29797509
5.

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.

6.

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 May 21. doi: 10.1111/cge.13369. [Epub ahead of print] No abstract available.

PMID:
29782645
7.

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 May 16. doi: 10.1002/humu.23550. [Epub ahead of print]

PMID:
29768694
8.

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 May 8. doi: 10.1002/ana.25256. [Epub ahead of print] No abstract available.

PMID:
29740860
9.

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 Apr 26. doi: 10.1111/cge.13371. [Epub ahead of print]

PMID:
29700822
10.

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 Apr 17. pii: S0387-7604(18)30108-6. doi: 10.1016/j.braindev.2018.03.012. [Epub ahead of print]

PMID:
29678278
11.

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.

12.

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.

13.

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.

PMID:
29576218
14.

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
15.

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.

16.

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
17.

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.

18.

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
19.

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.

PMID:
29491473
20.

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 Feb 27. doi: 10.1097/MPH.0000000000001111. [Epub ahead of print]

PMID:
29489735
21.

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.

PMID:
29483676
22.

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.

PMID:
29455859
23.

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
24.

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
25.

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
26.

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
27.

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]

PMID:
29394991
28.

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.

PMID:
29362492
29.

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
30.

[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.

31.

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.

32.

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
33.

Targeted silencing of SOX2 by an artificial transcription factor showed antitumor effect in lung and esophageal squamous cell carcinoma.

Yokota E, Yamatsuji T, Takaoka M, Haisa M, Takigawa N, Miyake N, Ikeda T, Mori T, Ohno S, Sera T, Fukazawa T, Naomoto Y.

Oncotarget. 2017 Oct 5;8(61):103063-103076. doi: 10.18632/oncotarget.21523. eCollection 2017 Nov 28.

34.

A novel mutation in SLC1A3 causes episodic ataxia.

Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Feb;63(2):207-211. doi: 10.1038/s10038-017-0365-z. Epub 2017 Dec 5.

PMID:
29208948
35.

Tumor invasion to the arteries feeding the gallbladder as a novel risk factor for cholecystitis after metallic stent placement in distal malignant biliary obstruction.

Sogabe Y, Kodama Y, Honjo H, Aoyama I, Muramoto Y, Koga E, Yanaidani T, Kawai M, Yoshikawa T, Matsumoto S, Matsumoto A, Mori Y, Ono C, Nishida M, Nishida Y, Mikami T, Matsunaga Y, Miyamoto Y, Kitami M, Nishikawa K, Kondo M, Miyake N, Kawanami C, Seno H.

Dig Endosc. 2018 May;30(3):380-387. doi: 10.1111/den.12991. Epub 2017 Dec 21.

PMID:
29181859
36.

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Miyatake S, Koshimizu E, Shirai I, Kumada S, Nakata Y, Kamemaru A, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Matsumoto N.

Mov Disord. 2018 Jan;33(1):177-179. doi: 10.1002/mds.27219. Epub 2017 Nov 22. No abstract available.

PMID:
29165877
37.

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi JI, Matsumoto N, Yamamoto T.

Hum Genome Var. 2017 Nov 9;4:17051. doi: 10.1038/hgv.2017.51. eCollection 2017.

38.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

39.

Response to Lefebvre et al.

Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.

Clin Genet. 2017 Nov;92(5):563-564. doi: 10.1111/cge.13011.

PMID:
28990171
40.

Mycobacterium abscessus and massiliense lung infection during macrolide treatment for bronchiolitis obliterans after allogeneic hematopoietic stem cell transplantation.

Miyake N, Chong Y, Nishida R, Takenaka K, Kato K, Miyamoto T, Aono A, Takaki A, Mitarai S, Shimoda S, Shimono N, Akashi K.

J Infect Chemother. 2018 Jan;24(1):78-81. doi: 10.1016/j.jiac.2017.08.011. Epub 2017 Oct 6.

PMID:
28988958
41.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.

Hum Genome Var. 2017 Oct 5;4:17040. doi: 10.1038/hgv.2017.40. eCollection 2017.

42.

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N.

Clin Genet. 2018 Apr;93(4):929-930. doi: 10.1111/cge.13105. Epub 2017 Oct 4.

PMID:
28975623
43.

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

Matsumoto A, Imagawa E, Miyake N, Ikeda T, Kobayashi M, Goto M, Matsumoto N, Yamagata T, Osaka H.

Brain Dev. 2018 Apr;40(4):325-329. doi: 10.1016/j.braindev.2017.09.002. Epub 2017 Sep 28.

PMID:
28965976
44.

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.

Iwashita H, Okudela K, Matsumura M, Yamanaka S, Sawazumi T, Enaka M, Udaka N, Miyake A, Hibiya T, Miyake N, Matsumoto N, Makiyama K, Yao M, Nagashima Y, Ohashi K.

Pathol Int. 2017 Nov;67(11):585-589. doi: 10.1111/pin.12587. Epub 2017 Sep 28.

PMID:
28960644
45.

Detection of copy number variations in epilepsy using exome data.

Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N.

Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25.

PMID:
28940419
46.

Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2.

Sugiyama M, Iguchi A, Yamada M, Terashita Y, Ohshima J, Cho Y, Miyake N, Matsumoto N, Ueki M, Yamazaki Y, Takezaki S, Kobayashi I, Ariga T.

Bone Marrow Transplant. 2017 Dec;52(12):1678-1680. doi: 10.1038/bmt.2017.189. Epub 2017 Sep 4. No abstract available.

PMID:
28869616
47.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.

48.

Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.

Kin J, Tsukaguchi H, Kimata T, Nguyen HT, Nakano Y, Miyake N, Matsumoto N, Kaneko K.

BMC Nephrol. 2017 Aug 17;18(1):271. doi: 10.1186/s12882-017-0682-7. No abstract available.

49.

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Okamoto N, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N.

Congenit Anom (Kyoto). 2018 May;58(3):105-107. doi: 10.1111/cga.12242. Epub 2017 Oct 6.

PMID:
28787104
50.

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N.

Clin Genet. 2017 Nov;92(5):554-555. doi: 10.1111/cge.13023. Epub 2017 Aug 3.

PMID:
28771707

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