(Q35881781)

10 August 2017

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

1 reference

10 August 2017

Floridia G

1

1 reference

10 August 2017

Piantanida M

2

1 reference

10 August 2017

Minelli A

3

1 reference

10 August 2017

Dellavecchia C

4

1 reference

10 August 2017

Bonaglia C

5

1 reference

10 August 2017

Rossi E

6

1 reference

10 August 2017

Gimelli G

7

1 reference

10 August 2017

Croci G

8

1 reference

10 August 2017

Franchi F

9

1 reference

10 August 2017

Gilgenkrantz S

10

1 reference

10 August 2017

Grammatico P

11

1 reference

10 August 2017

Dalprá L

12

1 reference

10 August 2017

Wood S

13

1 reference

10 August 2017

Danesino C

14

1 reference

10 August 2017

Zuffardi O

15

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

58

1 reference

10 August 2017

785-796

1 reference

10 August 2017

4

1 reference

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

A first-generation physical map of the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Inverted duplication of 8p: ten new patients and review of the literature

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Clinical and molecular analysis of five inv dup(15) patients.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Order of six loci at 2q24-q31 and orientation of the HOXD locus.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Report and abstracts of the second international workshop on human chromosome 8 mapping 1994. Oxford, United Kingdom, September 16-18, 1994.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Integrated mapping analysis of the Werner syndrome region of chromosome 8.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Inv dup(15) supernumerary marker chromosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Specific association of human telomerase activity with immortal cells and cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Healing of broken human chromosomes by the addition of telomeric repeats

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Meiotic chromosome pairing in the normal human female.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

A genetic linkage map of the human genome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Isolation and characterization of human defensin cDNA clones

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

The human tissue plasminogen activator gene.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

RFLP for the human lipoprotein lipase (LPL) gene: HindIII.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Sequence of human DNA polymerase beta mRNA obtained through cDNA cloning

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Telomeres shorten during ageing of human fibroblasts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Distal 8p deletion (8p23.1----8pter): a common deletion?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914661

Gene dose effect: regional mapping of human glutathione reductase on chromosome 8

14 November 2018

1 reference

12 December 2020

Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8)

1 reference

12 December 2020

High resolution R- and G-banding on the same preparation

1 reference

12 December 2020

A genetic map of human chromosome 17p

1 reference

12 December 2020

Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes

1 reference

12 December 2020

Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

1 reference