(Q36627230)

15 August 2017

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures (English)

1 reference

15 August 2017

microdeletion syndrome

1 reference

26

1 reference

15 August 2017

Lucia Castiglia

24

0 references

Manuela De Gregori

Manuela De Gregori

9

0 references

Francesca Novara

Francesca Novara

8

0 references

Marco Fichera

Marco Fichera

23

0 references

Roberto Giorda

Roberto Giorda

19

0 references

Corrado Romano

Corrado Romano

30

0 references

Orsetta Zuffardi

Orsetta Zuffardi

31

0 references

Evan E. Eichler

34

Evan E Eichler

1 reference

15 August 2017

2

Heather C Mefford

1 reference

15 August 2017

10

Roberto Ciccone

1 reference

15 August 2017

25

Pinella Failla

1 reference

15 August 2017

4

Carl Baker

1 reference

15 August 2017

27

Zhaoshi Jiang

1 reference

15 August 2017

12

Iris Casuga

1 reference

15 August 2017

11

Adam Broomer

1 reference

15 August 2017

20

Regina Regan

1 reference

15 August 2017

5

Cindy Skinner

1 reference

15 August 2017

33

Charles E Schwartz

1 reference

Bernardo Dalla Bernardina

15 August 2017

17

Bernardo Dalla Bernardina

1 reference

15 August 2017

18

Claudia Torniero

1 reference

15 August 2017

Andrew J Sharp

1

1 reference

15 August 2017

Kelly Li

3

1 reference

15 August 2017

Roger E Stevenson

6

1 reference

15 August 2017

Richard J Schroer

7

1 reference

15 August 2017

Yu Wang

13

1 reference

15 August 2017

Chunlin Xiao

14

1 reference

15 August 2017

Catalin Barbacioru

15

1 reference

15 August 2017

Giorgio Gimelli

16

1 reference

15 August 2017

Victoria Murday

21

1 reference

15 August 2017

Sahar Mansour

22

1 reference

15 August 2017

Gregory M Cooper

28

1 reference

15 August 2017

Samantha J L Knight

29

1 reference

15 August 2017

Caifu Chen

32

1 reference

15 August 2017

language of work or name

English

0 references

publication date

17 February 2008

1 reference

15 August 2017

1 reference

15 August 2017

40

1 reference

15 August 2017

322-328

1 reference

15 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.93

15 August 2017

0 references

cites work

Germ-line DNA copy number variation frequencies in a large North American population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

A comprehensive analysis of common copy-number variations in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Structural variation of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Analysis of the DNA sequence and duplication history of human chromosome 15

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Diagnostic genome profiling in mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Segmental duplications and copy-number variation in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Detection of large-scale variation in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Large-scale copy number polymorphism in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genome architecture, rearrangements and genomic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genome structural variation and sporadic disease traits.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genetic syndromes among individuals with mental retardation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 National Health Interview Survey Disability Supplements.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2365467

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

20 September 2018

1 reference

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 national health interview survey disability supplements.

21 January 2018

1 reference

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG.93

1 reference

Dimensions Publication ID

15 August 2017

0 references

1001121458

0 references

Fatcat ID

release_uc434qnnavhnblhcxtqg42w6lu

0 references

Mendeley publication ID

a106e124-1829-309e-97e1-ef8e1bf81ce0

0 references

Microsoft Academic ID

0 references

0 references

0 references

1 reference

15 August 2017

1 reference