Detalhe da pesquisa
1.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999728
2.
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
J Hum Genet
; 66(4): 439-443, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067531
3.
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Endocr J
; 68(5): 605-611, 2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583911
4.
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
J Hum Genet
; 65(2): 181-186, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645653
5.
Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.
Pediatr Blood Cancer
; 70(4): e30120, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468647
6.
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
Am J Med Genet A
; 188(5): 1612-1617, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005837
7.
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Am J Med Genet A
; 173(1): 157-162, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683237
8.
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
J Hum Genet
; 60(2): 91-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427884
9.
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Clin Endocrinol (Oxf)
; 80(5): 706-13, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24313804
10.
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
Congenit Anom (Kyoto)
; 64(1): 23-27, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062907
11.
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
Endocr J
; 60(7): 855-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23474776
12.
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.
PLoS Genet
; 6(6): e1000992, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20585555
13.
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
Tohoku J Exp Med
; 231(2): 75-84, 2013 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24077358
14.
Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.
J Clin Endocrinol Metab
; 108(10): 2550-2560, 2023 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37010083
15.
Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.
Clin Pediatr Endocrinol
; 31(3): 172-177, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35928375
16.
GATA3 abnormalities in six patients with HDR syndrome.
Endocr J
; 58(2): 117-21, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21242646
17.
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Clin Epigenetics
; 13(1): 73, 2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827678
18.
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing.
Clin Case Rep
; 8(6): 1076-1080, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577269
19.
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Eur J Hum Genet
; 27(12): 1845-1857, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332306
20.
Immunostimulating activity of a crude polysaccharide derived from green tea (Camellia sinensis) extract.
J Agric Food Chem
; 56(4): 1423-7, 2008 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-18232634