Detalhe da pesquisa
1.
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
J Hum Genet
; 2024 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38902431
2.
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Am J Med Genet A
; 194(2): 268-278, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815018
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.
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Am J Med Genet A
; 188(2): 446-453, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652060
5.
Clinical spectrum of individuals with de novo EBF3 variants or deletions.
Am J Med Genet A
; 185(10): 2913-2921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050706
6.
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Am J Med Genet A
; 185(10): 3092-3098, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042275
7.
Emergence of dorsal-ventral polarity in ESC-derived retinal tissue.
Development
; 143(21): 3895-3906, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633992
8.
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome.
Clin Pediatr Endocrinol
; 33(2): 50-58, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572385
9.
Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.
Intractable Rare Dis Res
; 13(1): 36-41, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404736
10.
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.
Genes (Basel)
; 15(3)2024 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540372
11.
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Brain Dev
; 45(7): 363-371, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973114
12.
Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.
Intractable Rare Dis Res
; 11(3): 143-148, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200032
13.
Protocol for isolating young adult parvalbumin interneurons from the mouse brain for extraction of high-quality RNA.
STAR Protoc
; 2(3): 100714, 2021 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34401780
14.
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Brain Dev
; 43(10): 1023-1028, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481663
15.
Postnatal Arx transcriptional activity regulates functional properties of PV interneurons.
iScience
; 24(1): 101999, 2021 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33490907
16.
Promotion of axon regeneration by myelin-associated glycoprotein and Nogo through divergent signals downstream of Gi/G.
J Neurosci
; 24(30): 6826-32, 2004 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-15282288
17.
p75 neurotrophin receptor signaling in the nervous system.
Biotechnol Annu Rev
; 10: 123-49, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15504705
18.
Two cases of infantile linear immunoglobulin A/immunoglobulin G bullous dermatosis.
J Dermatol
; 39(2): 176-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21767293