1.
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Original article
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Glass syndrome derived from chromosomal breakage downstream region of SATB2 2024/10/01
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2.
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Case report
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Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX 2024/08/16
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3.
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Case report
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Clonal hematopoiesis without malignant transformation lasting over 2 years in a 9-year-old boy, following treatment for acute lymphocytic leukemia 2024/08/01
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4.
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Original article
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Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia and seizures 2024/08/01
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5.
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Case report
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Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: a case series 2024/07/23
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6.
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Original article
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VEGFA locus amplification potentially predicts a favorable prognosis in gastric adenocarcinoma 2024/07/01
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7.
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Original article
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Blepharophimosis with Intellectual Disability (BIS) and Helsmoortel-Van Der Aa Syndrome (HVDAS) share episignature and phenotype 2024/05/15
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8.
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Case report
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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait 2024/05/15
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9.
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Original article
|
Identification of PTGIS rare variants in patients with Williams syndrome and severe peripheral pulmonary stenosis 2024/03/01
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10.
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Original article
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Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions 2024/02/03
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11.
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Case report
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Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
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12.
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Original article
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2024/01
|
13.
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Case report
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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features 2023/08/07
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14.
|
Original article
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Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/01
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15.
|
Original article
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Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns 2023/06/10
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16.
|
Case report
|
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C 2023/06
|
17.
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Case report
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A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. 2023/04/22
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18.
|
Original article
|
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis 2023/03/02
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19.
|
Original article
|
Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow‑up of Children, and Embryo Ranking 2023/03
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20.
|
Original article
|
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features 2023/02
|
21.
|
Original article
|
Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements 2023/01
|
22.
|
Original article
|
Beta-tricalcium phosphate as a possible adjuvant in γδ Tcell-based immune therapy for human disorders 2022/12/20
|
23.
|
Case report
|
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
|
24.
|
Case report
|
Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus 2022/10/22
|
25.
|
Original article
|
Genotype-phenotype correlation in six patients with interstitial deletions spanning 13q31 2022/09
|
26.
|
Original article
|
Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/09
|
27.
|
Original article
|
Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants 2022/09
|
28.
|
Case report
|
Non-invasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period 2022/08
|
29.
|
Case report
|
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity 2022/07/20
|
30.
|
Original article
|
Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature 2022/06/01
|
31.
|
Case report
|
GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia 2022/04/25
|
32.
|
Original article
|
A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1 2022/04/21
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33.
|
Case report
|
A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability, and diabetes mellitus; a case report 2022/02
|
34.
|
Original article
|
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis 2022/01/12
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35.
|
Case report
|
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures 2021/11/29
|
36.
|
Original article
|
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet 2021/10/08
|
37.
|
Case report
|
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 2021/10
|
38.
|
Original article
|
Clinical spectrum of individuals with de novo EBF3 variants or deletions 2021/10
|
39.
|
Original article
|
HECW2-related disorder in four Japanese patients 2021/10
|
40.
|
Review article
|
Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders 2021/09/04
|
41.
|
Case report
|
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants successfully treated with ketogenic diet 2021/09/04
|
42.
|
Original article
|
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons 2021/06/26
|
43.
|
Case report
|
Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease 2021/04/01
|
44.
|
Case report
|
A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting 2021/03/18
|
45.
|
Case report
|
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
|
46.
|
Original article
|
iPSCs established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation 2021/03
|
47.
|
Case report
|
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene 2021/03
|
48.
|
Case report
|
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 2021/03
|
49.
|
Original article
|
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
|
50.
|
Original article
|
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome 2020/12
|
51.
|
Original article
|
Pyridoxal may be a better indicator of vitamin B6 dependent epilepsy than pyridoxal 5-phosphate 2020/12
|
52.
|
Case report
|
Coffin–Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. 2020/11
|
53.
|
Original article
|
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 2020/11
|
54.
|
Original article
|
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations 2020/11
|
55.
|
Review article
|
Application of Induced Pluripotent Stem Cells in Epilepsy 2020/10
|
56.
|
Original article
|
Analyses of breakpoint-junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing 2020/09
|
57.
|
Original article
|
Molecular Profiles of Breast Cancer in a Single Institution 2020/08
|
58.
|
Original article
|
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications 2020/05/22
|
59.
|
Case report
|
Identification of homozygous somatic DICER1 mutation in pleuropulmonary blastoma 2020/05
|
60.
|
Case report
|
Novel LAMA2 variants identified in a patient with white matter abnormality 2020/05
|
61.
|
Case report
|
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. 2020/04/13
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62.
|
Case report
|
Gitelman syndrome caused by a novel hemi-allelic missense mutation of SLC12A3 unveiled by 16q12.2q21 microdeletion 2020/03
|
63.
|
Original article
|
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract 2020/01
|
64.
|
Original article
|
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction 2020/01
|
65.
|
Case report
|
Two different MLC1 variants compounded with a common variant S93L in Japanese patients of megalencephalic leukoencephalopathy with subcortical cysts 2020
|
66.
|
Original article
|
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure 2019/12
|
67.
|
Case report
|
A de novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome 2019/11
|
68.
|
Case report
|
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation 2019/11
|
69.
|
Original article
|
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders 2019/10
|
70.
|
Case report
|
Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion 2019/10
|
71.
|
Original article
|
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia 2019/10
|
72.
|
Case report
|
Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
|
73.
|
Original article
|
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities 2019/09
|
74.
|
Original article
|
Advantages of ddPCR in detection of PLP1 duplications 2019/08
|
75.
|
Original article
|
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single nucleotide deletion in PLP1 2019/07
|
76.
|
Case report
|
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination 2019/06
|
77.
|
Case report
|
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan 2019/05
|
78.
|
Case report
|
PRRT2 mutation in a sporadic case of paroxysmal kinesigenic dyskinesia 2019/04
|
79.
|
Original article
|
Three Japanese patients with 3p13 microdeletions involving FOXP1 2019/03
|
80.
|
Case report
|
A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
|
81.
|
Original article
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Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder 2018/12
|
82.
|
Case report
|
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12
|
83.
|
Case report
|
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU 2018/09
|
84.
|
Case report
|
Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2 2018/09
|
85.
|
Case report
|
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism 2018/07
|
86.
|
Case report
|
Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia 2018/07
|
87.
|
Case report
|
Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome 2018/07
|
88.
|
Case report
|
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer 2018/06
|
89.
|
Case report
|
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA 2018/03
|
90.
|
Original article
|
Somatic mosaic deletions involving SCN1A cause Dravet syndrome. 2018/03
|
91.
|
Case report
|
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. 2018/01
|
92.
|
Original article
|
Evaluation of the relationship between the serum immunoglobulin G2 level and repeated infectious diseases in children 2018/01
|
93.
|
Original article
|
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer. 2018
|
94.
|
Original article
|
Familial 9q33q34 microduplication in siblings with developmental disorders and acrocephaly. 2017/12
|
95.
|
Case report
|
A girl with the smallest de novo microdeletion of 20q11.2; intellectual disability and dysmorphic features 2017/11
|
96.
|
Original article
|
Characteristics of rare and private deletions identified in phenotypically normal individuals. 2017/09
|
97.
|
Case report
|
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation 2017/09
|
98.
|
Case report
|
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly 2017/08
|
99.
|
Case report
|
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence 2017/08
|
100.
|
Case report
|
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder 2017/07
|
101.
|
Case report
|
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient. 2017/07
|
102.
|
Case report
|
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
|
103.
|
Case report
|
Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation 2017/04
|
104.
|
Case report
|
An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. 2017/04
|
105.
|
Original article
|
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts 2017/03/30
|
106.
|
Original article
|
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 2017/03
|
107.
|
Original article
|
The ARHGEF9 Disease: Phenotype Clarification and Genotype-Phenotype Correlation. 2017/03
|
108.
|
Case report
|
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism. 2017/02
|
109.
|
Case report
|
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. 2017/02
|
110.
|
Case report
|
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 2017/02
|
111.
|
Case report
|
Neurological manifestations of 2q31 microdeletion syndrome. 2017/02
|
112.
|
Case report
|
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation 2017
|
113.
|
Original article
|
Mutations in NSD1 and NFIX in three patients with clinical features of Sotos syndrome and Malan syndrome 2017
|
114.
|
Case report
|
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis. 2016/10
|
115.
|
Original article
|
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. 2016/10
|
116.
|
Case report
|
Migrating partial seizures in 4p- syndrome successfully treated by bromide. 2016/08
|
117.
|
Original article
|
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. 2016/08
|
118.
|
Case report
|
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 2016/06
|
119.
|
Original article
|
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 2016/06
|
120.
|
Original article
|
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients 2016/06
|
121.
|
Case report
|
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. 2016/05
|
122.
|
Case report
|
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. 2016/04
|
123.
|
Original article
|
Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome. 2016/04
|
124.
|
Case report
|
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1. 2016/03
|
125.
|
Case report
|
A de novo microdeletion in a patient with inner ear abnormalities suggests the existence of the responsible gene in 10q26.13. 2016
|
126.
|
Case report
|
Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. 2016
|
127.
|
Original article
|
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 2016
|
128.
|
Case report
|
Epilepsy phenotypes in siblings with Norrie disease. 2015/11
|
129.
|
Original article
|
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 2015/11
|
130.
|
Original article
|
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. 2015/10
|
131.
|
Case report
|
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. 2015/10
|
132.
|
Original article
|
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. 2015/10
|
133.
|
Original article
|
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations 2015/09
|
134.
|
Review article
|
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients. 2015/08
|
135.
|
Original article
|
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. 2015/08
|
136.
|
Original article
|
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. 2015/05
|
137.
|
Original article
|
Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease. 2015/03
|
138.
|
Original article
|
Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. 2015/03
|
139.
|
Review article
|
16p11.2 microdeletion/microduplication syndrome and benign infantile epilepsy. 2015/01
|
140.
|
Review article
|
[Editorial] Epilepsy in Numerical Chromosomal Abnormalities. 2015/01
|
141.
|
Review article
|
Epilepsies in children with 2q24.3 deletion/duplication. 2015/01
|
142.
|
Original article
|
Epilepsy and other symptoms associated with chromosome 9q34.11 microdeletion. 2015/01
|
143.
|
Review article
|
Epilepsy in 1p36 deletion syndrome is not associated with deletion size. 2015/01
|
144.
|
Case report
|
Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. 2015/01
|
145.
|
Original article
|
Xq28 duplications and epilepsy: Influence of the combinatory duplication of MECP2 and GDI1. 2015/01
|
146.
|
Case report
|
A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. 2015
|
147.
|
Case report
|
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. 2015
|
148.
|
Case report
|
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 2015
|
149.
|
Case report
|
A novel MED12 mutation associated with non-specific X-linked intellectual disability. 2015
|
150.
|
Case report
|
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. 2015
|
151.
|
Original article
|
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. 2015
|
152.
|
Original article
|
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. 2015
|
153.
|
Original article
|
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations. 2015
|
154.
|
Other
|
Comment on "Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature" by Azzolini S et al. 2015
|
155.
|
Case report
|
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. 2015
|
156.
|
Case report
|
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 2015
|
157.
|
Case report
|
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. 2015
|
158.
|
Original article
|
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. 2015
|
159.
|
Original article
|
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
|
160.
|
Original article
|
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
|
161.
|
Original article
|
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 2015
|
162.
|
Case report
|
White matter abnormalities in an adult patient with L-2-hydroxyglutaric aciduria. 2015
|
163.
|
Original article
|
Growth patterns of patients with 1p36 deletion syndrome. 2014/05
|
164.
|
Original article
|
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia, and behavioral abnormalities 2014/01
|
165.
|
Original article
|
3p interstitial deletion including PRICKLE2 in identical twins with autistic features. 2014
|
166.
|
Original article
|
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 2014
|
167.
|
Original article
|
Bilateral periventricular nodular heterotopia with megalencephaly: a case report. 2014
|
168.
|
Original article
|
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. 2014
|
169.
|
Original article
|
Clinical impacts of genomic copy number gains at Xq28. 2014
|
170.
|
Original article
|
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. 2014
|
171.
|
Original article
|
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. 2014
|
172.
|
Original article
|
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 2014
|
173.
|
Original article
|
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. 2014
|
174.
|
Original article
|
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. 2014
|
175.
|
Original article
|
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 2014
|
176.
|
Original article
|
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. 2014
|
177.
|
Original article
|
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. 2014
|
178.
|
Original article
|
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. 2014
|
179.
|
Original article
|
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. 2014
|
180.
|
Original article
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A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 2013/07
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181.
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Original article
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MECP2 duplication syndrome in both genders. 2013/05
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182.
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Original article
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A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
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183.
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Case report
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De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. 2013/03
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184.
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Original article
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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 2013/03
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185.
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Original article
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101 kb deletion of chromosome 4p16.3 limited to WHSCR2 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. 2013
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186.
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Original article
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A case of atypical benign partial epilepsy with action myoclonus. 2013
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187.
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Original article
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A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013
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188.
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Original article
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A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism. 2013
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189.
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Original article
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A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 2013
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190.
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Original article
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Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. 2013
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191.
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Original article
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Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. 2013
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192.
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Original article
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Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. 2013
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193.
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Original article
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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 2013
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194.
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Original article
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Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. 2013
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195.
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Original article
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Microdeletions of 5.5Mb (4q13.2-q13.3) and 4.1Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. 2013
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196.
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Original article
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PRRT2 mutation in Japanese children with benign infantile epilepsy. 2013
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197.
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Original article
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Whole-exome sequence for a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasia. 2013
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198.
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Original article
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An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease 2012/09
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199.
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Original article
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De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. 2012/09
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200.
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Original article
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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. 2012/09
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201.
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Original article
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Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. 2012/09
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202.
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Original article
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Whole gene deletion mutation of HNF1B and exonic aberration
mutations of GCK and HNF1B in patients with MODY in Japan 2012/09
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203.
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Original article
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Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. 2012/06
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204.
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Original article
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Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). 2012/06
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205.
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Original article
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8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. 2012/05
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206.
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Original article
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Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 2012/03
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207.
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Case report
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Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. 2012/03
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208.
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Case report
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Jacobsen Syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. 2012/01
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209.
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Original article
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Growth profiles of 34 patients with Wolf-Hirschhorn Syndrome. 2012
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210.
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Original article
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Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay. 2011/12
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211.
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Original article
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Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. 2011/11
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212.
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Original article
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CDKL5 alterations lead to early epileptic encephalopathy in both genders. 2011/10
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213.
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Case report
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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. 2011/10
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214.
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Case report
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Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. 2011/09
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215.
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Original article
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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 2011/08
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216.
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Original article
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Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extra axial space. 2011/08
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217.
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Original article
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SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis. 2011/08
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218.
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Original article
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Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. 2011/07
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219.
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Original article
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Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. 2011/07
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220.
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Case report
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9q22 Deletion--first familial case. 2011/06
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221.
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Original article
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A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. 2011/04
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222.
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Case report
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Spondylometaphyseal dysplasia with cone-rod dystrophy. 2011/04
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223.
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Case report
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Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB 2011
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224.
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Original article
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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 2011
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225.
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Original article
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STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study. 2010/12
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226.
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Case report
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Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale. 2010/12
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227.
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Case report
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A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. 2010/11
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228.
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Original article
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Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia. 2010/10
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229.
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Case report
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Co-occurrence of Prader-Willi and Sotos syndromes. 2010/08
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230.
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Original article
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Genomic copy number variations at 17p13.3 and epileptogenesis. 2010/05
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231.
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Original article
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Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. 2010/05
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232.
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Case report
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Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3. including ITGB6. 2010/04
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233.
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Original article
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zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. 2010/04
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234.
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Original article
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A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. 2010/03
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235.
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Original article
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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. 2010/03
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236.
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Original article
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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2010
|
237.
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Original article
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TULIP1 (RALGAPA1) haploinsufficiency with brain development delay 2009/12
|
238.
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Original article
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A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay 2009
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239.
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Original article
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A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including Rubinstein-Taybi region but no relation with psychiatric traits 2009
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240.
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Original article
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A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae 2009
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241.
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Original article
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A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features: a new patient with 3.2-Mb deletion 2009
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242.
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Original article
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Clinical features of microdeletion 9q22.3 (pat) 2009
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243.
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Original article
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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2009
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244.
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Original article
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Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH 2009
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245.
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Original article
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Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2) 2009
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246.
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Original article
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Serum levels of CA15-3, KL-6 and BCA225 are positively correlated with each other in general population 2009
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247.
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Original article
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Variations in Clinical Findings of Patients with Identical Tuberous Sclerosis Gene Mutations 2009
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248.
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Original article
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Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome 2009
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