Pages that link to "Q30445573"
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The following pages link to De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints (Q30445573):
Displaying 50 items.
- Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding (Q21202044) (← links)
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (Q24292830) (← links)
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation (Q24532155) (← links)
- Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans (Q24546374) (← links)
- Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing (Q24633977) (← links)
- Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive (Q26769649) (← links)
- Small supernumerary marker chromosomes and their correlation with specific syndromes (Q26795731) (← links)
- 2014 Presidential Address: The time of our lives (Q28651475) (← links)
- The population genetics of structural variation (Q28752151) (← links)
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies (Q28752220) (← links)
- Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication (Q28768531) (← links)
- A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man (Q30818512) (← links)
- Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. (Q30959347) (← links)
- Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report (Q33398165) (← links)
- Molecular cytogenetics and cytogenomics of brain diseases (Q33464340) (← links)
- Cytogenetic analysis in prenatal diagnosis. (Q33581918) (← links)
- De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene (Q33676401) (← links)
- Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH. (Q33677339) (← links)
- A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm (Q33688781) (← links)
- De novo balanced reciprocal translocation t(2;3)(q31;q27) in a fetus conceived using PGD in a t(2;14)(q35;q32.1) balanced reciprocal translocation carrier mother. (Q33760948) (← links)
- The effect of translocation-induced nuclear reorganization on gene expression (Q33812517) (← links)
- Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability (Q33845730) (← links)
- Biosafety assessment of site-directed transgene integration in human umbilical cord-lining cells (Q34025078) (← links)
- AT-rich palindromes mediate the constitutional t(11;22) translocation. (Q34043814) (← links)
- A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) (Q34050961) (← links)
- Multicolor FISH analysis of chromosomal breaks, duplications, deletions, and numerical abnormalities in the sperm of healthy men (Q34144151) (← links)
- A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation (Q34146321) (← links)
- Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review (Q34244428) (← links)
- Clinical diagnosis by whole-genome sequencing of a prenatal sample (Q34315784) (← links)
- Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. (Q34326696) (← links)
- Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing (Q34329023) (← links)
- Chromosomal dynamics of human neocentromere formation (Q34338174) (← links)
- The Prenatal Diagnosis of Genetic Diseases (Q34416763) (← links)
- Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly (Q34447099) (← links)
- Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes (Q34452268) (← links)
- Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study (Q34569537) (← links)
- Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay (Q34631519) (← links)
- Detection of chromosomal breakpoints in patients with developmental delay and speech disorders (Q35113414) (← links)
- Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (Q35257406) (← links)
- Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. (Q35406225) (← links)
- Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes (Q35432122) (← links)
- Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. (Q35434123) (← links)
- Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation (Q35441852) (← links)
- The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes (Q35446985) (← links)
- Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China (Q35560606) (← links)
- An analysis of human sperm chromosome breakpoints (Q35643129) (← links)
- A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. (Q35643794) (← links)
- Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis (Q35643964) (← links)
- Complex human chromosomal and genomic rearrangements (Q35731269) (← links)
- Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: Two case studies (Q35769979) (← links)