Detalhe da pesquisa
1.
New host records of three Kudoa spp. (K. yasunagai, K. thalassomi, and K. igami) with notable variation in the number of shell valves and polar capsules in spores.
Parasitol Res
; 118(1): 143-157, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30565195
2.
Morphological and molecular genetic characterization of Kudoa konishiae n. sp. (Myxosporea: Multivalvulida) in the muscle of Japanese Spanish mackerel (Scomberomorus niphonius).
Parasitol Res
; 117(3): 893-904, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29417272
3.
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Am J Hum Genet
; 89(2): 320-7, 2011 Aug 12.
Artigo
Inglês
| MEDLINE | ID: mdl-21835308
4.
Distribution of copper in the Atlantic and Pacific Oceans using green turtles (Chelonia mydas) as a bioindicator.
Environ Sci Pollut Res Int
; 31(22): 31967-31977, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38642227
5.
Pantropical distribution of zinc in green turtles (Chelonia mydas): marine vertebrates as sentiel species.
Environ Sci Pollut Res Int
; 30(17): 50509-50519, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36795213
6.
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Hum Genet
; 131(4): 591-9, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22001912
7.
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.
J Hum Genet
; 56(5): 343-7, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21326309
8.
[Acute lymphoblastic leukemia in a pediatric patient with Marfan's syndrome].
Rinsho Ketsueki
; 52(1): 28-31, 2011 Jan.
Artigo
Chinês
| MEDLINE | ID: mdl-21378479
9.
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.
Neurogenetics
; 11(4): 409-15, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20424877
10.
Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2.
Biochem Biophys Res Commun
; 402(2): 335-9, 2010 Nov 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20946879
11.
Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.
Cerebellum
; 8(1): 46-51, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18855094
12.
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Am J Med Genet A
; 149A(3): 336-42, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19208380
13.
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
Am J Med Genet A
; 146A(23): 3070-4, 2008 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19006214
14.
Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Am J Med Genet A
; 146A(11): 1462-5, 2008 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18449934
15.
Cadmium in tissues of green turtles (Chelonia mydas): A global perspective for marine biota.
Sci Total Environ
; 637-638: 389-397, 2018 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29753227
16.
Modulation at a cellular level of the thyroid hormone receptor-mediated gene expression by 1,2,5,6,9,10-hexabromocyclododecane (HBCD), 4,4'-diiodobiphenyl (DIB), and nitrofen (NIP).
Toxicol Lett
; 155(1): 127-33, 2005 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15585367
17.
Subcellular distribution of trace elements in the liver of sea turtles.
Mar Pollut Bull
; 45(1-12): 224-9, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-12398389
18.
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
Am J Med Genet A
; 143A(7): 694-8, 2007 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-17345643
19.
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.
J Hum Genet
; 51(5): 477-479, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16544049
20.
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
J Hum Genet
; 51(5): 461-466, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16614795