NSTL国家科技图书文献中心

1. Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens NSTL国家科技图书文献中心

Rosenfeld,J.A. | Morton,S.A.... - 《Fetal diagnosis and therapy》 - 2014,36(3) - 231～241 - 共11页 - 被引量：8

摘要：Background: While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of varia...

关键词： BACs-on-Beads assay | Chromosomal abnormalities | Low-risk pregnancy | Microdeletion | Microduplication | Rapid aneuploidy testing

2. Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Chowdhury,S. | Bandholz,A.M.... - 《American journal of medical genetics, Part A》 - 2014,164A(1) - 62～69 - 共8页 - 被引量：17

摘要：A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal...

关键词： 19q12 deletion | 19q13.11 deletion syndrome | ACGH | Developmental delay | Ectodermal dysplasia | Microarray testing | Microdeletion

3. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder NSTL国家科技图书文献中心

Mullegama,S.V. | Rosenfeld,J.A.... - 《European journal of human genetics: EJHG》 - 2014,22(1) - 57～63 - 共7页 - 被引量：33

摘要：Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We h...

关键词： 2q23.1 | autism spectrum disorder | gene dosage | MBD5 | microdeletion | microduplication

4. Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Shaffer,L.G. | Rosenfeld,J.A. - 《Expert Review of Molecular Diagnostics》 - 2013,13(6) - 601～611 - 共11页 - 被引量：13

摘要：The goal of prenatal cytogenetic testing is to provide reassurance to the couple seeking testing for their pregnancy, identify chromosome abnormalities in the fetus, if present, and provide treatments...

关键词： chromosome analysis | comparative genomic hybridization | copy number variant | karyotype | microarray | prenatal diagnosis | single nucleotide polymorphism

5. Genetic basis of intellectual disability SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Ellison,J.W. | Rosenfeld,J.A.... - 《Annual Review of Medicine》 - 2013,64 - 441～450 - 共10页 - 被引量：63

摘要：In the past decade, we have witnessed a flood of reports about mutations that cause or contribute to intellectual disability (ID). This rapid progress has been driven in large part by the implementati...

关键词： chromosome disorder | microarray analysis | neurodevelopmental phenotypes | next-generation sequencing

6. Estimates of penetrance for recurrent pathogenic copy-number variations SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Rosenfeld,J.A. | Coe,B.P.... - 《Genetics in medicine》 - 2013,15(6) - 478～481 - 共4页 - 被引量：194

摘要：Purpose: Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the penetrance of these copy-number variations remains...

关键词： copy-number variation | genomic disorder | microarray | penetrance | prenatal diagnosis

7. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients NSTL国家科技图书文献中心

Barber,J.C.K. | Rosenfeld,J.A.... - 《American journal of medical genetics, Part A》 - 2013,161A(3) - 487～500 - 共14页 - 被引量：30

摘要：The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another...

关键词： 8p23.1 | Candidate genes | Chromosome duplication | Chromosomes | Common features | DNA array | Genomic disorder | Human | Pair 8 | Variable penetrance

8. Recurrent HERV-H-Mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Shuvarikov,A. | Campbell,I.M.... - 《Human mutation》 - 2013,34(10) - 1415～1423 - 共9页 - 被引量：27

摘要：We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have...

关键词： 3q13 | Developmental delay | HERV-H | Hypotonia | Microarray | Microdeletion | NAHR | Recurrent

9. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways NSTL国家科技图书文献中心

Paciorkowski,A.R. | Traylor,R.N.... - 《Neurogenetics》 - 2013,14(2) - 99～111 - 共13页 - 被引量：59

摘要：MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients wit...

关键词： Autism | Deletion 5q14.3 | Hyperkinesis | Infant-onset myoclonic epilepsy | Infantile spasms | Intellectual disability | MEF2C haploinsufficiency

10. Investigation of NRXN1 deletions: Clinical and molecular characterization NSTL国家科技图书文献中心

Dabell,M.P. | Rosenfeld,J.A.... - 《American journal of medical genetics, Part A》 - 2013,161A(4) - 717～731 - 共15页 - 被引量：62

摘要：Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dys...