Detalhe da pesquisa
1.
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Pediatr Int
; 60(1): 67-69, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059480
2.
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Mol Genet Metab
; 120(3): 207-212, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041819
3.
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
J Hum Genet
; 61(4): 351-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740235
4.
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
J Hum Genet
; 60(4): 203-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608831
5.
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
J Hum Genet
; 59(1): 46-50, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24225992
6.
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
J Hum Genet
; 59(8): 423-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24871807
7.
[Clinical manifestations of three neonates with family histories of Menkes disease].
No To Hattatsu
; 46(1): 26-9, 2014 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-24620427
8.
Improvement in a post-stroke pediatric patient with hemiplegia: Use of a hand-arm bimanual intensive therapy with hybrid assistive limb.
Brain Dev
; 46(1): 68-72, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37652813
9.
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.
J Hum Genet
; 58(1): 33-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23223008
10.
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene.
Pediatr Int
; 55(5): 646-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24134754
11.
Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.
BMC Genet
; 13: 23, 2012 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22462762
12.
Natural Course of Pachychoroid Pigment Epitheliopathy.
Ophthalmol Sci
; 2(4): 100201, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531587
13.
Early clinical signs and treatment of Menkes disease.
Mol Genet Metab Rep
; 31: 100849, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242581
14.
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Mol Genet Metab
; 104(4): 556-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22000755
15.
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
Mol Genet Metab
; 103(3): 303-4, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21514860
16.
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
J Hum Genet
; 56(2): 110-24, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981036
17.
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
Mol Genet Metab
; 101(2-3): 233-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20638880
18.
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.
BMC Med Genet
; 11: 49, 2010 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350330
19.
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
J Hum Genet
; 55(12): 785-90, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20827276
20.
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
J Hum Genet
; 55(6): 379-88, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20485447