scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGME.2013.07.013 |
P698 | PubMed publication ID | 23920044 |
P50 | author | Caroline Rooryck | Q53856184 |
Didier Lacombe | Q53856195 | ||
Jerome Toutain | Q59360629 | ||
P2093 | author name string | Jérôme Toutain | |
Marie-Ange Delrue | |||
Patricia Fergelot | |||
Marie-Laure Vuillaume | |||
Benoit Arveiler | |||
Sophie Naudion | |||
P2860 | cites work | Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 |
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum | Q28236613 | ||
Deletion of chromosome 3q proximal region gives rise to a variable phenotype | Q28273897 | ||
A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice | Q28506099 | ||
A case of de novo interstitial deletion 3q | Q33674918 | ||
Dopamine receptors in human adipocytes: expression and functions | Q34038390 | ||
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth | Q34328586 | ||
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 syndrome | Q35534016 | ||
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease | Q35649549 | ||
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features | Q35682160 | ||
GAP-43 gene expression regulates information storage. | Q35850597 | ||
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum | Q36587439 | ||
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Dopamine receptors in human lymphocytes: radioligand binding and quantitative RT-PCR assays | Q37087395 | ||
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Novel dopamine receptors half a decade later | Q40372450 | ||
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 traits | Q77572380 | ||
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2) | Q80573725 | ||
Delineation of the proximal 3q microdeletion syndrome | Q81413540 | ||
OEIS complex with del(3)(q12.2q13.2) | Q81736226 | ||
Microdeletion and microduplication syndromes | Q83587486 | ||
P433 | issue | 1-2 | |
P304 | page(s) | 90-97 | |
P577 | publication date | 2013-07-20 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication | |
P478 | volume | 110 |
Q52968187 | A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q. |
Q33617380 | Adult expression of a 3q13.31 microdeletion |
Q88335260 | Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia |
Q57083771 | Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion |
Q49270535 | Identification of novel genomic imbalances in Saudi patients with congenital heart disease. |
Q48636884 | Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes. |
Q89767614 | Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 |
Q42735227 | Zbtb20 modulates the sequential generation of neuronal layers in developing cortex |
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