Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Journal of the Formosan Medical Association = Taiwan yi zhi

• Publication date

  2004-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.29828/JFMA.200405.0011PMID 15216407
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Altered expression of Ape1/ref-1 in germ cell tumors and overexpression in NT2 cells confers resistance to bleomycin and radiation.

  2001cited by this paper
• Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

  2001cited by this paper
• High‐resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci

  2000cited by this paper
• De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings

  1999cited by this paper
• Loss of heterozygosity (LOH) at 17q and 14q in human lung cancers

  1998cited by this paper
• Deletion mapping of two potential chromosome 14 tumor suppressor gene loci in ovarian carcinoma.

  1997cited by this paper
• A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

  1997cited by this paper
• Another patient with a deletion 14q11.2q13.

  1996cited by this paper
• Novel suppressor loci on chromosome 14q in primary bladder cancer.

  1995cited by this paper
• First case of deletion 14q11.2q13: clinical phenotype.

  1994cited by this paper
• Human brain factor 1, a new member of the fork head gene family.

  1994cited by this paper
• Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

  1993cited by this paper

• A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

  2016cites this paper
• Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

  2012cites this paper
• A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

  2012cites this paper
• The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

  2011cites this paper
• Identification of genomic loci contributing to agenesis of the corpus callosum

  2010cites this paper
• TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

  2009cites this paper
• Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

  2009cites this paper
• Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

  2006cites this paper
• Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

  2005cites this paper