NSTL国家科技图书文献中心

1. Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Kobayashi,S. | Onuma,A.... - 《Pediatric neurology》 - 2014,51(3) - 414～416 - 共3页

摘要：Background Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associate...

关键词： Allan-Herndon-Dudley syndrome | brain MRI | cerebral palsy | monocarboxylate transporter 8 (MCT8) gene

2. 3p interstitial deletion including prickle2 in identical twins with autistic features SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Okumura,A. | Yamamoto,T.... - 《Pediatric neurology》 - 2014,51(5) - 730～733 - 共4页

摘要：Background Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays.Patients We describe the clinical course an...

关键词： 3p14 microdeletion | autistic features | identical twins | PRICKLE2

3. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Yamamoto,T. | Wilsdon,A.... - 《Journal of human genetics》 - 2014,59(6) - 300～306 - 共7页

摘要：The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result ...

关键词： behavioral abnormality | brain expressed X-linked 3 (BEX3) | intellectual disability | interleukin 1 receptor accessory proteinlike 2 (IL1RAPL2) | microdeletion Xq22 | PelizaeusMerzbacher disease (PMD) | proteolipid protein 1 (PLP1)

4. 109kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Okamoto,N. | Ohmachi,K.... - 《American journal of medical genetics, Part A》 - 2013,161A(6) - 1465～1469 - 共5页

摘要：Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with growth retardation, developmental disabilities, epileptic seizures, and distinct facial features resulting from a ...

关键词： LETM1 | WHSC1 | WHSCR1 | WHSCR2 | Wolf-Hirschhorn syndrome

5. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Shimojima,K. | Tanaka,R.... - 《Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology》 - 2013,330(1/2) - 123～126 - 共4页

摘要：Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, motor developmental delay, ataxia, and progressive...

关键词： GJC2 (GJA12) | Loss-of-heterozygosity (LOH) | Mutation | Pelizaeus-Merzbacher-like disease | SNP genotyping microarray | Uniparental disomy (UPD)

6. 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 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Shichiji,M. | Ito,Y.... - 《American journal of medical genetics, Part A》 - 2013,161A(4) - 850～855 - 共6页

摘要：The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl-CpG-binding...

关键词： 2q23.1 deletion syndrome | Cryptic deletion | Methyl-CpG-binding domain 5 gene (MBD5) | Obesity | Pachygyria

7. 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 NSTL国家科技图书文献中心

Shimada,S. | Okamoto,N.... - 《American journal of medical genetics, Part A》 - 2013,161A(8) - 2078～2083 - 共6页

摘要：We observed a patient with a Saethre-Chotzen-like phenotype with severe neurological features. Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant cra...

关键词： Autism | Concurrent chromosomal deletions | Intellectual disability | Saethre-Chotzen syndrome | TWIST1

8. Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior NSTL国家科技图书文献中心

Usui,D. | Shimada,S.... - 《American journal of medical genetics, Part A》 - 2013,161A(5) - 1078～1084 - 共7页

摘要：Duplications of the 2q33 region are rare; to date, only 13 patients have been reported to have this chromosomal abnormality. The reported duplications are of varying size, and the patients shared deve...

关键词： 2q32-q33 duplication | Autistic behavior | Epilepsy | Psychomotor developmental delay | SATB2

9. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation NSTL国家科技图书文献中心

Okumura,A. | Hayashi,M.... - 《Brain & Development》 - 2013,35(3) - 274～279 - 共6页

摘要：We described the clinical course and pathological findings in a child with TUBA1A mutation. MRI revealed marked ventricular dilation with thin cortex, poorly differentiated basal ganglia, agenesis of ...

关键词： Cerebellar hypoplasia | Lissencephaly | TUBA1A | Ventricular dilation

10. PRRT2 mutation in Japanese children with benign infantile epilepsy SCIE Web of Science核心 NSTL国家科技图书文献中心

Okumura,A. | Shimojima,K.... - 《Brain & Development》 - 2013,35(7) - 641～646 - 共6页

摘要：Mutations in PRRT2 genes have been identified as a major cause of benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. We explored mutations in PRRT2 in Japanese patients with BIE as we...