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

scientific article published on 20 July 2013

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2013.07.013
P698PubMed publication ID23920044

P50authorCaroline RooryckQ53856184
Didier LacombeQ53856195
Jerome ToutainQ59360629
P2093author name stringJérôme Toutain
Marie-Ange Delrue
Patricia Fergelot
Marie-Laure Vuillaume
Benoit Arveiler
Sophie Naudion
P2860cites workAnalysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosumQ28236613
Deletion of chromosome 3q proximal region gives rise to a variable phenotypeQ28273897
A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in miceQ28506099
A case of de novo interstitial deletion 3qQ33674918
Dopamine receptors in human adipocytes: expression and functionsQ34038390
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthQ34328586
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.Q34568745
Boy with a chromosome del (3)(q12q23) and blepharophimosis syndromeQ35534016
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of diseaseQ35649549
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresQ35682160
GAP-43 gene expression regulates information storage.Q35850597
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosumQ36587439
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disordersQ36856478
Dopamine receptors in human lymphocytes: radioligand binding and quantitative RT-PCR assaysQ37087395
Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasisQ37192098
Novel dopamine receptors half a decade laterQ40372450
GAP-43 is critical for normal development of the serotonergic innervation in forebrain.Q43972742
Association between dopamine receptor D3 gene BalI polymorphism and cognitive impulsiveness in alcohol-dependent men.Q46527212
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.Q51924308
A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.Q51930226
Congenital arhinia: molecular-genetic analysis of five patients.Q52577069
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traitsQ77572380
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)Q80573725
Delineation of the proximal 3q microdeletion syndromeQ81413540
OEIS complex with del(3)(q12.2q13.2)Q81736226
Microdeletion and microduplication syndromesQ83587486
P433issue1-2
P304page(s)90-97
P577publication date2013-07-20
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleExpanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
P478volume110

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cites work (P2860)
Q52968187A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
Q33617380Adult expression of a 3q13.31 microdeletion
Q88335260Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia
Q57083771Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
Q49270535Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Q48636884Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
Q89767614Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Q42735227Zbtb20 modulates the sequential generation of neuronal layers in developing cortex

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