(Q41935110)

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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Europe PubMed Central

PubMed publication ID

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

2

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Ryan Traylor

3

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Aaron Theisen

4

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Patricia I Bader

5

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Roger L Ladda

6

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Susan L Sell

7

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Michelle Steinraths

8

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Urvashi Surti

9

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Marianne McGuire

10

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Shelley Williams

11

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Sandra A Farrell

12

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James Filiano

13

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Rhonda E Schnur

14

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Lauren B Coffey

15

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Raymond C Tervo

16

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Tracy Stroud

17

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Michael Marble

18

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Michael Netzloff

19

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Kristen Hanson

20

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Arthur S Aylsworth

21

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J S Bamforth

22

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Deepti Babu

23

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Dmitriy M Niyazov

24

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J Britt Ravnan

25

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Roger A Schultz

26

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Allen N Lamb

27

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Beth S Torchia

28

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Bassem A Bejjani

29

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14 October 2017

Lisa G Shaffer

30

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29 July 2011

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14 October 2017

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14 October 2017

131

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1

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145-156

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14 October 2017

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

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.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

Characterising and predicting haploinsufficiency in the human genome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

Hypomorphic mutation in hnRNP U results in post-implantation lethality

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

Further delineation of the chromosome 14q terminal deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

Chromosome 1q42 deletion and agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1073-Y

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-011-1073-Y

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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