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X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations
Detailed molecular characterization of chromosomal rearrangements involving X‐chromosome has been a key strategy in identifying X‐linked intellectual disability‐causing genes. We fine‐mapped theExpand
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Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements
X-chromosome inactivation occurs randomly in normal female cells. However, the inactivation can be skewed in patients with alterations in X-chromosome. In balanced X-autosome translocations, normal XExpand
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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations
We report five individuals with loss‐of‐function of the X‐linked AMMECR1: a girl with a balanced X‐autosome translocation and inactivation of the normal X‐chromosome; two boys with maternallyExpand
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22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization
We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes.Expand
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The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
Abstract Gonadal sex determination is a complex genetic process by which an embryonic primordium is driven to form an ovary or a testis, which requires a delicate dosage balance involving many genes.Expand
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Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
Oculo‐auriculo‐vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second pharyngeal arches. The clinically heterogeneous phenotypeExpand
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Novel homozygous ALX4 mutation causing frontonasal dysplasia‐2 in a patient with meningoencephalocele
Fig. 1. Frontal facial appearance of the proband at 5 months of age (a). 3-D computerized tomographic (CT) scan of proband at 1 day old showing microcranium, brachycephaly, hypertelorism andExpand
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Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.
OBJECTIVE To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility. DESIGNExpand
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Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo.
qRT-PCR requires reliable internal control genes stably expressed in different samples and experimental conditions. The stability of reference genes is rarely tested experimentally, especially inExpand
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Position effect modifying gene expression in a patient with ring chromosome 14
The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence ofExpand
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