Detalhe da pesquisa
1.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 865-875, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536124
2.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131284
3.
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Am J Med Genet A
; 188(4): 1184-1192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35018717
4.
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Am J Med Genet A
; 185(3): 884-888, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369122
5.
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Am J Med Genet A
; 185(7): 2084-2093, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973697
6.
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
J Hum Genet
; 65(12): 1045-1053, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661284
7.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
8.
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan.
J Hum Genet
; 64(9): 945-954, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273322
9.
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
Am J Med Genet A
; 179(8): 1628-1630, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173466
10.
SATB2-associated syndrome in patients from Japan: Linguistic profiles.
Am J Med Genet A
; 179(6): 896-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848049
11.
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
Am J Med Genet A
; 176(6): 1335-1340, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663678
12.
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 993-995, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34727261
13.
Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Am J Med Genet A
; 188(2): 665-667, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633143
14.
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
Am J Med Genet A
; 173(5): 1353-1357, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374938
15.
Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome.
Pediatr Int
; 64(1): e14732, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34808020
16.
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.
Am J Med Genet A
; 170(12): 3249-3252, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511161
17.
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.
Am J Med Genet A
; 167A(5): 1171-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712828
18.
Congenital corneal staphyloma as a complication of Kabuki syndrome.
Am J Med Genet A
; 158A(8): 2000-2, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786791
19.
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
Am J Med Genet A
; 158A(10): 2537-41, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887648
20.
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
Am J Med Genet A
; 158A(6): 1292-303, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22528406