A de novo 1.9‐Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

No abstract is available for this paper.

• Publication year

  2009

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2009-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32963PMID 19610083
• 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.

• From dopaminergic genes to psychiatric disorders

  2009cited by this paper
• Developmental characteristics of very low‐birthweight infants at 18 months’ corrected age according to birthweight

  2008cited by this paper
• Dopaminergic mechanism of reward-related incentive learning: Focus on the dopamine d3 receptor

  2008cited by this paper
• Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

  2008cited by this paper
• Delineation of the proximal 3q microdeletion syndrome

  2008cited by this paper
• Congenital arhinia: Molecular‐genetic analysis of five patients

  2007cited by this paper
• Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

  2006cited by this paper
• OEIS complex with del(3)(q12.2q13.2)

  2005cited by this paper
• Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)

  2004cited by this paper
• Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation

  2003cited by this paper
• BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation

  2002cited by this paper
• Dopamine receptors: from structure to function.

  1998cited by this paper
• Deletion of chromosome 3q proximal region gives rise to a variable phenotype

  1998cited by this paper
• A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice.

  1996cited by this paper
• A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

  1994cited by this paper
• Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

  1992cited by this paper
• Dopamine receptor genes: new tools for molecular psychiatry.

  1992cited by this paper
• A case of de novo interstitial deletion 3q.

  1987cited by this paper
• Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome.

  1985cited by this paper

• Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders

  2021cites this paper
• Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

  2019cites this paper
• A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q

  2017cites this paper
• Female patient with autistic disorder, intellectual disability, and co‐morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion

  2015influential citation
• Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

  2014influential citation
• Adult expression of a 3q13.31 microdeletion

  2014influential citation
• De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.

  2013cites this paper
• Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

  2013cites this paper
• A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

  2013cites this paper
• Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

  2013cites this paper
• A new case of rare proximal 3q13 interstitial deletion

  2011cites this paper
• A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

  2011cites this paper