Detalhe da pesquisa
1.
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Hum Mol Genet
; 32(8): 1301-1312, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426838
2.
Investigation of stratum corneum cell morphology and content using novel machine-learning image analysis.
Skin Res Technol
; 30(2): e13565, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279539
3.
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Hum Genet
; 142(10): 1451-1460, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615740
4.
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.
PLoS Genet
; 16(5): e1008826, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32453729
5.
Crystal structures of the human adiponectin receptors.
Nature
; 520(7547): 312-316, 2015 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25855295
6.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
J Hum Genet
; 65(8): 705-709, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277176
7.
Propensity score-matched analysis of systemic chemotherapy versus salvage hysterectomy for persistent cervical cancer after definitive radiotherapy/concurrent chemoradiotherapy.
BMC Cancer
; 20(1): 1169, 2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256667
8.
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy.
J Infect Chemother
; 26(5): 516-519, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983616
9.
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Hum Mutat
; 39(8): 1070-1075, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768694
10.
Nitric oxide augments single persistent Na+ channel currents via the cGMP/PKG signaling pathway in Kenyon cells isolated from cricket mushroom bodies.
J Neurophysiol
; 120(2): 720-728, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742029
11.
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
J Hum Genet
; 63(8): 887-892, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29849040
12.
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.
J Hum Genet
; 63(5): 589-595, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459630
13.
Current Situation of Treatment for Anaphylaxis in a Japanese Pediatric Emergency Center.
Pediatr Emerg Care
; 34(4): e64-e67, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27077998
14.
Clinical factors associated with prehospital exacerbation of anaphylaxis in children.
Minerva Pediatr
; 70(3): 212-216, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271039
15.
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
J Hum Genet
; 62(11): 945-948, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28680109
16.
Cryptic exon activation in SLC12A3 in Gitelman syndrome.
J Hum Genet
; 62(2): 335-337, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784896
17.
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
J Hum Genet
; 62(9): 851-855, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446798
18.
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
J Hum Genet
; 62(9): 869, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28839276
19.
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Nature
; 478(7367): 127-31, 2011 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21979053
20.
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Clin Exp Nephrol
; 21(1): 136-142, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968886