|1.||Ruivenkamp, Claudia A L: 1 article (07/2015)|
|2.||Bakker, Bert: 1 article (07/2015)|
|3.||van den Boogaard, Marlinde L: 1 article (07/2015)|
|4.||Lemmers, Richard J L F: 1 article (07/2015)|
|5.||van der Vliet, Patrick J: 1 article (07/2015)|
|6.||Donlin-Smith, Colleen M: 1 article (07/2015)|
|7.||Tapscott, Stephen: 1 article (07/2015)|
|8.||van der Maarel, Silvère M: 1 article (07/2015)|
|9.||Tawil, Rabi: 1 article (07/2015)|
|10.||Cody, Jannine D: 1 article (07/2015)|
|1.||Dystonia (Limb Dystonia)
12/01/2009 - "Objective of the present study was to evaluate the possible pathophysiology and clinical characteristics of dystonia in patients with the 18p deletion syndrome by describing a new case and reviewing the literature. "
03/01/2014 - "GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome."
12/01/2009 - "However, dystonia may also be secondary to structural brain changes often seen in patients with the 18p deletion syndrome."
12/01/2009 - "Deletion of 2 known dystonia loci on chromosome 18p, DYT7 and DYT15, or the deletion of another dystonia gene just above the centromere of chromosome 18p may be the cause of dystonia in patients with the 18p deletion syndrome. "
12/01/2009 - "Dystonia in patients with the 18p deletion syndrome seems to present heterogeneously with a variable age of onset and distribution of symptoms. "
|2.||Chromosome Aberrations (Chromosome Abnormalities)
06/01/2006 - "The deletion 18p syndrome is one of the most common chromosome abnormalities. "
08/01/1976 - "On the other hand an absence of visceral malformations does not exclude chromosomal aberrations; thus 18p- syndrome, where cebocephaly is frequent, may have no visceral abnormalities."
03/01/2004 - "The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely."
|3.||Turner Syndrome (Turner's Syndrome)
09/01/1979 - "Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. "
01/01/2008 - "In young children, deletion 18p syndrome may be vaguely evocative of either Turner syndrome or trisomy 21. "
01/01/2007 - "Based on these data, we propose a phenotype map for several clinical features of the 18p- syndrome: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and seizures to the distal 8 Mb and ptosis and short neck to the proximal half of 18p."
10/31/1978 - "The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. "
|2.||Pneumococcal Vaccines (Pneumococcal Polysaccharide Vaccine)
|3.||Growth Hormone (Somatotropin)
|4.||Genetic Markers (Genetic Marker)
|5.||Adrenocorticotropic Hormone (ACTH)
|6.||Chromosome 18 deletion syndrome