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Items: 1 to 50 of 358

1.

IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations.

Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T.

J Clin Endocrinol Metab. 2019 Sep 23. pii: dgz034. doi: 10.1210/clinem/dgz034. [Epub ahead of print]

PMID:
31544945
2.

Life-threatening muscle complications of COL4A1-related disorder.

Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H.

Brain Dev. 2019 Sep 18. pii: S0387-7604(19)30293-1. doi: 10.1016/j.braindev.2019.09.001. [Epub ahead of print]

PMID:
31540749
3.

Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders".

Nakashima M, Ogata K, Saitsu H, Matsumoto N.

Ann Neurol. 2019 Nov;86(5):805-806. doi: 10.1002/ana.25599. Epub 2019 Oct 4. No abstract available.

PMID:
31509620
4.

Efficacy of surgical microwave ablation for recurrent hepatocellular carcinoma after curative hepatectomy.

Ryu T, Takami Y, Wada Y, Hara T, Sasaki S, Saitsu H.

HPB (Oxford). 2019 Aug 28. pii: S1365-182X(19)30686-0. doi: 10.1016/j.hpb.2019.08.001. [Epub ahead of print]

PMID:
31473076
5.

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H.

Epilepsia Open. 2019 May 24;4(3):476-481. doi: 10.1002/epi4.12339. eCollection 2019 Sep.

6.

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.

Hiraide T, Kaba Yasui H, Kato M, Nakashima M, Saitsu H.

J Hum Genet. 2019 Nov;64(11):1127-1132. doi: 10.1038/s10038-019-0656-7. Epub 2019 Aug 16.

PMID:
31420595
7.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T.

J Hum Genet. 2019 Oct;64(10):1041-1044. doi: 10.1038/s10038-019-0650-0. Epub 2019 Aug 6.

PMID:
31388108
8.

Conversion surgery for initially unresectable carcinoma of the ampulla of Vater following pathological complete response to chemotherapy: a case report.

Sato Y, Hara T, Takami Y, Wada Y, Ryu T, Sasaki S, Yoshitomi M, Momosaki S, Murakami M, Hijioka M, Kaku T, Kawabe K, Saitsu H.

Surg Case Rep. 2019 Jul 30;5(1):122. doi: 10.1186/s40792-019-0680-z.

9.

Actual 10-Year Survival After Surgical Microwave Ablation for Hepatocellular Carcinoma: A Single-Center Experience in Japan.

Ryu T, Takami Y, Wada Y, Hara T, Sasaki S, Saitsu H.

Ann Surg Oncol. 2019 Nov;26(12):4126-4133. doi: 10.1245/s10434-019-07646-8. Epub 2019 Jul 29.

PMID:
31359277
10.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T.

Eur J Hum Genet. 2019 Jul 22. doi: 10.1038/s41431-019-0473-7. [Epub ahead of print]

PMID:
31332306
11.

Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.

Shiohama T, Nakashima M, Ikehara H, Kato M, Saitsu H.

Congenit Anom (Kyoto). 2019 Jul 21. doi: 10.1111/cga.12351. [Epub ahead of print] No abstract available.

PMID:
31328296
12.

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

Hirasawa-Inoue A, Ishiyama A, Takeshita E, Shimizu-Motohashi Y, Saito T, Komaki H, Nakagawa E, Yuasa S, Saitsu H, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.

Brain Dev. 2019 Jul 6. pii: S0387-7604(19)30032-4. doi: 10.1016/j.braindev.2019.06.006. [Epub ahead of print]

PMID:
31288946
13.

Hepatic resection versus operative microwave ablation for single hepatocellular carcinoma ≤5 cm: A propensity score-matched analysis.

Ryu T, Takami Y, Wada Y, Hara T, Sasaki S, Saitsu H.

Surgery. 2019 Sep;166(3):254-262. doi: 10.1016/j.surg.2019.05.007. Epub 2019 Jul 3.

PMID:
31279438
14.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H.

Mol Genet Genomic Med. 2019 Aug;7(8):e814. doi: 10.1002/mgg3.814. Epub 2019 Jun 23.

15.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.

Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F.

Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20.

PMID:
31229688
16.

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
17.

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.

Yamaura G, Higashiyama Y, Kusama K, Kunii M, Tanaka K, Koyano S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Iwahashi Y, Joki H, Matsumoto N, Doi H, Tanaka F.

Intern Med. 2019 Sep 15;58(18):2715-2719. doi: 10.2169/internalmedicine.2126-18. Epub 2019 Jun 7.

18.

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.

19.

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.

Fukada M, Yamada K, Eda S, Inoue K, Ohba C, Matsumoto N, Saitsu H, Nakayama A.

Mol Genet Genomic Med. 2019 Jul;7(7):e00698. doi: 10.1002/mgg3.698. Epub 2019 May 20.

20.

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
21.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T.

J Am Soc Nephrol. 2019 May;30(5):877-889. doi: 10.1681/ASN.2018121268. Epub 2019 Apr 8.

PMID:
30962325
22.

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
23.

A Clinical Scoring System for Predicting Microvascular Invasion in Patients with Hepatocellular Carcinoma Within the Milan Criteria.

Ryu T, Takami Y, Wada Y, Tateishi M, Hara T, Yoshitomi M, Momosaki S, Yasumori K, Saitsu H, Okuda K.

J Gastrointest Surg. 2019 Apr;23(4):779-787. doi: 10.1007/s11605-019-04134-y. Epub 2019 Feb 20.

PMID:
30788712
24.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y.

Epileptic Disord. 2019 Feb 1;21(1):48-54. doi: 10.1684/epd.2019.1026.

PMID:
30782581
25.

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H.

Brain Dev. 2019 May;41(5):474-479. doi: 10.1016/j.braindev.2019.01.005. Epub 2019 Feb 2.

PMID:
30723005
26.

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Yoshitomi S, Takahashi Y, Imai K, Koshimizu E, Miyatake S, Nakashima M, Saitsu H, Matsumoto N, Kato M, Fujita T, Ishii A, Hirose S, Inoue Y.

Seizure. 2019 Feb;65:118-123. doi: 10.1016/j.seizure.2019.01.009. Epub 2019 Jan 18.

PMID:
30684875
27.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H.

Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056. Epub 2019 Jan 24.

PMID:
30680869
28.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N.

J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z. Epub 2019 Jan 17.

PMID:
30655572
29.

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
30.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.

Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec.

31.

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
32.

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
33.

GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T.

Clin Case Rep. 2018 Oct 11;6(11):2229-2233. doi: 10.1002/ccr3.1851. eCollection 2018 Nov.

34.

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
35.

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
36.

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
37.

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI.

Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.

PMID:
30256902
38.

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.

Takashima S, Saitsu H, Shimozawa N.

J Hum Genet. 2019 Feb;64(2):145-152. doi: 10.1038/s10038-018-0512-1. Epub 2018 Sep 20. Review.

PMID:
30237433
39.

Long-term survival of a patient with recurrent gallbladder carcinoma, treated with chemotherapy, immunotherapy, and surgery: a case report.

Kawamoto M, Wada Y, Koya N, Takami Y, Saitsu H, Ishizaki N, Tabata M, Onishi H, Nakamura M, Morisaki T.

Surg Case Rep. 2018 Sep 15;4(1):115. doi: 10.1186/s40792-018-0512-6.

40.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H.

Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018.

41.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.

Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.

42.

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.

Brain Dev. 2018 Oct;40(9):819-823. doi: 10.1016/j.braindev.2018.05.012. Epub 2018 Jun 12.

PMID:
29907476
43.

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y.

Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z.

44.

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
45.

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
46.

Prognosis of Hepatocellular Carcinoma Patients Who Achieved Long-Term Recurrence-Free Survival After Curative Therapy: Impact of the ALBI Grade.

Matsushima H, Takami Y, Ryu T, Yoshitomi M, Tateishi M, Wada Y, Saitsu H.

J Gastrointest Surg. 2018 Jul;22(7):1230-1238. doi: 10.1007/s11605-018-3745-6. Epub 2018 May 7.

PMID:
29736665
47.

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
48.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.

Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.

Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23.

PMID:
29699863
49.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R.

Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.

50.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y.

Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17.

PMID:
29666954

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