High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. (Q41935110)

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scientific article published on 29 July 2011

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

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English	High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.	scientific article published on 29 July 2011	High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. (English)

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14 October 2017

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Blake C Ballif

1

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Jill A Rosenfeld

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Ryan Traylor

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Aaron Theisen

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Patricia I Bader

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Roger L Ladda

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Susan L Sell

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Michelle Steinraths

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Urvashi Surti

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Marianne McGuire

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Shelley Williams

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Sandra A Farrell

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James Filiano

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Rhonda E Schnur

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Lauren B Coffey

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Raymond C Tervo

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Tracy Stroud

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Michael Marble

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Michael Netzloff

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Kristen Hanson

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Arthur S Aylsworth

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J S Bamforth

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Deepti Babu

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Dmitriy M Niyazov

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J Britt Ravnan

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Roger A Schultz

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Allen N Lamb

27

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Beth S Torchia

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Bassem A Bejjani

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Lisa G Shaffer

30

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29 July 2011

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1073-y

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

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Molecular cloning and mapping of a novel developmentally regulated human C2H2-type zinc finger.

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A portrait of AKT kinases: human cancer and animal models depict a family with strong individualities

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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

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A human protein kinase Bgamma with regulatory phosphorylation sites in the activation loop and in the C-terminal hydrophobic domain

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21 January 2018

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

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21 January 2018

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

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Role for Akt3/protein kinase Bgamma in attainment of normal brain size

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FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

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Characterising and predicting haploinsufficiency in the human genome.

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Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.

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Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

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Telomeric position effect: from the yeast paradigm to human pathologies?

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Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

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Hypomorphic mutation in hnRNP U results in post-implantation lethality

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

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Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

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Further delineation of the chromosome 14q terminal deletion syndrome

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Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

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21 January 2018

Chromosome 1q42 deletion and agenesis of the corpus callosum

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A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

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Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy

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12 December 2020

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Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female

1 reference

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12 December 2020

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Association of terminal chromosome 1 deletion with sertoli cell-only syndrome

1 reference

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12 December 2020

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10.1007/S00439-011-1073-Y

1 reference

Europe PubMed Central

14 October 2017

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14 October 2017

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