Detalles de la búsqueda
1.
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Am J Med Genet A
; 191(1): 37-51, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36189931
2.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet
; 66(11): 1121-1126, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34031513
3.
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Am J Med Genet A
; 185(7): 2175-2179, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33884742
4.
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
J Hum Genet
; 64(10): 1005-1014, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31311986
5.
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A
; 179(6): 948-957, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30941898
6.
CTCF deletion syndrome: clinical features and epigenetic delineation.
J Med Genet
; 54(12): 836-842, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28848059
7.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A
; 170A(2): 322-328, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26481852
8.
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Am J Med Genet A
; 167A(3): 592-601, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25691411
9.
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A
; 164A(5): 1272-6, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664492
10.
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(3): 597-609, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24357569
11.
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
J Hum Genet
; 58(8): 560-3, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23635952
12.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A
; 161A(6): 1221-37, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23637025
13.
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Chromosome Res
; 20(6): 659-72, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22801776
14.
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
Mol Syndromol
; 14(5): 394-404, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37901861
15.
Common variants in CASP3 confer susceptibility to Kawasaki disease.
Hum Mol Genet
; 19(14): 2898-906, 2010 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20423928
16.
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Am J Med Genet A
; 158A(4): 861-8, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22407754
17.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Am J Med Genet A
; 158A(2): 412-6, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22140075
18.
[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available].
Rinsho Byori
; 60(1): 32-6, 2012 Jan.
Artículo
en Japonés
| MEDLINE | ID: mdl-22416454
19.
Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.
Brain Dev
; 44(3): 229-233, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34876316
20.
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
J Hum Genet
; 56(2): 156-60, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21150920