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

No abstract is available for this paper.

• Publication year

  2012

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2012-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.35215PMID 22315208
• 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.

• A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

  2011cited by 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

  2011cited by this paper
• Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.

  2010cited by this paper
• Association of NPAS3 exonic variation with schizophrenia.

  2010influential reference
• A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia

  2010cited by this paper
• Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder

  2009cited by this paper
• TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

  2009cited by this paper
• Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

  2009cited by this paper
• Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

  2009cited by this paper
• Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.

  2008cited by this paper
• The iron–sulphur protein Ind1 is required for effective complex I assembly

  2008cited by this paper
• The NPAS3 gene--emerging evidence for a role in psychiatric illness.

  2006cited by this paper
• Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.

  2005cited by this paper
• Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

  2004cited by this paper
• Behavioral and regulatory abnormalities in mice deficient in the NPAS1 and NPAS3 transcription factors.

  2004cited by this paper
• Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.

  2004cited by this paper
• Disruption of the neuronal PAS3 gene in a family affected with schizophrenia

  2003cited by this paper
• Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

  2003cited by this paper
• Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

  2002cited by this paper
• Mutations in TITF-1 are associated with benign hereditary chorea.

  2002cited by this paper
• Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

  2001cited by this paper
• Abnormal myelination in a patient with deletion 14q11.2q13.1.

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

  1999cited by this paper
• Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

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

  1996cited by this paper
• First case of deletion 14q11.2q13: clinical phenotype.

  1994cited by this paper
• De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

  1994cited by this paper
• Nature Genetics Advance Online Publication High-throughput, Pooled Sequencing Identifies Mutations in Nubpl and Foxred1 in Human Complex I Deficiency

  year unknowncited by this paper

• A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker’s Voice

  2023cites this paper
• Connecting human voice profiling to genomics: A predictive algorithm for linking speech phenotypes to genetic microdeletion syndromes

  2022cites this paper
• 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

  2020cites this paper
• 14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

  2020cites this paper
• The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

  2018cites this paper
• 14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype

  2016cites this paper
• A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

  2016cites this paper
• UvA-DARE ( Digital Academic Repository ) Cancer predisposition in children : genetics , phenotypes & screening

  2014cites this paper
• Cancer predisposition in children: genetics, phenotypes & screening

  2014cites this paper
• Cancer predisposition in children : genetics , phenotypes & screening Hopman

  2014cites this paper
• Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes.

  2013cites this paper