(Q37217990)

19 August 2017

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation (English)

1 reference

19 August 2017

1 reference

12

1 reference

19 August 2017

Sabrina Giglio

1

1 reference

19 August 2017

Vladimiro Calvari

2

1 reference

19 August 2017

Giuliana Gregato

3

1 reference

19 August 2017

Giorgio Gimelli

4

1 reference

19 August 2017

Silvia Camanini

5

1 reference

19 August 2017

Roberto Giorda

6

1 reference

19 August 2017

Angela Ragusa

7

1 reference

19 August 2017

Silvana Guerneri

8

1 reference

19 August 2017

Angelo Selicorni

9

1 reference

19 August 2017

Marcus Stumm

10

1 reference

19 August 2017

Holger Tonnies

11

1 reference

19 August 2017

Marcella Zollino

13

1 reference

19 August 2017

Giovanni Neri

14

1 reference

19 August 2017

John Barber

15

1 reference

19 August 2017

Dagmar Wieczorek

16

1 reference

19 August 2017

Mariano Rocchi

17

1 reference

19 August 2017

Orsetta Zuffardi

18

1 reference

19 August 2017

language of work or name

English

0 references

publication date

10 June 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

71

1 reference

19 August 2017

2

1 reference

19 August 2017

276-285

1 reference

Segmental duplications and the evolution of the primate genome

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Genome architecture, rearrangements and genomic disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Recent duplication, domain accretion and the dynamic mutation of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Positive selection of a gene family during the emergence of humans and African apes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Segmental duplications: an 'expanding' role in genomic instability and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Epigenetic analysis of kinetochore assembly on variant human centromeres

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Structure of chromosomal duplicons and their role in mediating human genomic disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

A selective difference between human Y-chromosomal DNA haplotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Segmental duplications: organization and impact within the current human genome project assembly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379160

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12058347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12058347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/341610

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

12058347

1 reference