A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder

2018-10-09 09:35:13 | BioPortfolio

Published on BioPortfolio: 2018-10-09T09:35:13-0400

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Non-Invasive Chromosomal Evaluation of 22q11.2

This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...

Biobanking of Rett Syndrome and Related Disorders

The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDK...

Rare Diseases Clinical Research Network: Neurophysiological Correlates

The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, F...

Frequency of Metabolic Syndrome in Down Syndrome Patients

The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down ...

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Spectrum and time course of epilepsy and the associated cognitive decline in duplication syndrome.

We characterized the epilepsy features and contribution to cognitive regression in 47 patients with duplication syndrome (MDS) and reviewed these characteristics in over 280 MDS published cases.

Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.

Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome,...

Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.

Xia-Gibbs syndrome is a rare genetic condition characterized by intellectual disability, growth retardation, delayed psychomotor development with absent or poor expressive language, distinctive facial...

Psychiatric disorders in children with 16p11.2 deletion and duplication.

Deletion and duplication of 16p11.2 (BP4-BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a bro...

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Medical and Biotech [MESH] Definitions

Processes occurring in various organisms by which new genes arise, i.e. the duplication of a single gene. In contiguous gene duplication, the duplicated sequence coexists within the boundaries set by the start and stop signals for protein synthesis of the original, resulting in a larger transcription product and protein at the expense of the preexisting protein. In discrete gene duplication, the duplicated sequence is outside the start and stop signals, resulting in two independent genes (GENES, DUPLICATE) and gene products. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

A telecommunication system combining the transmission of a document scanned at a transmitter, its reconstruction at a receiving station, and its duplication there by a copier.

Thin sheets made from wood pulp and other fibrous substances, used for writing, drawing, printing, image duplication or wrapping.

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