Detalhe da pesquisa
1.
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Clin Genet
; 105(1): 87-91, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619988
2.
Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report.
Pediatr Dev Pathol
; 26(5): 494-498, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37672683
3.
Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.
Neuropathology
; 43(2): 190-196, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36325654
4.
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Am J Med Genet A
; 170A(4): 908-17, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782913
5.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Am J Med Genet A
; 158A(12): 3148-58, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165946
6.
NSAIDs and acidic environment induce gastric mucosal cellular mitochondrial dysfunction.
Digestion
; 85(2): 131-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22269294
7.
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
Am J Med Genet A
; 155A(12): 2925-32, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22009788
8.
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
Am J Med Genet A
; 155A(11): 2879-84, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990267
9.
D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.
Diagnostics (Basel)
; 11(2)2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670620
10.
Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study).
Diagnostics (Basel)
; 11(10)2021 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679535
11.
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
Genes (Basel)
; 12(3)2021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801456
12.
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).
J Obstet Gynaecol Res
; 36(3): 671-5, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598055
13.
Neoplastic transformation and induction of H+,K+ -adenosine triphosphatase by N-methyl-N'-nitro-N-nitrosoguanidine in the gastric epithelial RGM-1 cell line.
In Vitro Cell Dev Biol Anim
; 44(1-2): 26-30, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18034283
14.
Cellular membrane fluidity measurement by fluorescence polarization in indomethacin-induced gastric cellular injury in vitro.
J Gastroenterol
; 42(12): 939-46, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18085350
15.
Neuroradiologic findings in Sotos syndrome.
J Child Neurol
; 21(7): 614-8, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16970856
16.
Mechanisms involved in delta-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin.
Biochem Pharmacol
; 71(1-2): 42-9, 2005 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-16288996
17.
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Hum Mutat
; 22(5): 378-87, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517949
18.
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?
Am J Med Genet
; 113(2): 173-7, 2002 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-12407708
19.
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
Am J Med Genet A
; 149A(4): 785-7, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18642361
20.
Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA.
Clin Chem
; 54(10): 1746-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18824581