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(cat cry syndrome)
750 results
  • Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. [Journal Article]
    Mol Genet Genomic Med 2019; :e957Chehimi SN, Zanardo ÉA, … Kulikowski LD
  • CONCLUSIONS: With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype-phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.
  • Targeted Analysis Reveals Alteration in Pathway in 5p minus Individuals. [Journal Article]
    Biomed Chromatogr 2019; :e4673Furtado DZS, Leite FBVM, … Assunção NA
  • Cri du Chat or 5p minus syndrome is characterized by a deletion located on the chromosome 5 short (-p) arm and has an incidence rate of 1 in 50,000 individuals worldwide. This disease manifests in disturbances across a range of systems biochemicals. Therefore, a targeted metabolomics analysis was evaluated in patients with 5p minus syndrome to help unravel the biochemical changes that occur in th…
  • Skin picking disorder in 97 Italian and Spanish Cri du chat patients. [Journal Article]
    Am J Med Genet A 2019; 179(8):1525-1530Spunton M, Guala A, … Danesino C
  • Skin picking (SP) disorder is characterized by recurrent SP resulting in skin lesions. Several studies estimated its prevalence as approximately 2-4 % of the general population. It is also present in a high percentage of patients with intellectual and developmental disabilities, such as Cri du chat (CdC) syndrome, a rare genetic disorder caused by variable size deletions of the short arm of chrom…
  • Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. [Journal Article]
    Genet Mol Biol 2019; 42(1 suppl 1):186-196Corrêa T, Feltes BC, Riegel M
  • Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein-protein interaction (PPI) network within the critical chromosomal region 5p15.3-p15.2 associated with CdCs using systemsbiology. Data were extracted from cytogenomic find…
  • Improved memory and reduced anxiety in δ-catenin transgenic mice. [Journal Article]
    Exp Neurol 2019; 318:22-31Ryu T, Park HJ, … Kim K
  • δ-Catenin is abundant in the brain and affects its synaptic plasticity. Furthermore, loss of δ-catenin is related to the deficits of learning and memory, mental retardation (cri-du-chat syndrome), and autism. A few studies about δ-catenin deficiency mice were performed. However, the effect of δ-catenin overexpression in the brain has not been investigated as yet. Therefore we generated a δ-cateni…
  • Prenatal diagnosis of 5p deletion syndrome: Report of five cases. [Case Reports]
    J Obstet Gynaecol Res 2019; 45(4):923-926Mak ASL, Ma TWL, … Leung KY
  • It is difficult to prenatally identify 5p deletion (-) syndrome. Here, we report five cases of 5p- syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cas…
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