(Q33936335)

30 July 2017

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

1 reference

ORCID Public Data File 2021

30 July 2017

1 reference

author name string

Giglio S

1

1 reference

30 July 2017

Broman KW

2

1 reference

30 July 2017

Matsumoto N

3

1 reference

30 July 2017

Calvari V

4

1 reference

30 July 2017

Gimelli G

5

1 reference

30 July 2017

Neumann T

6

1 reference

30 July 2017

Ohashi H

7

1 reference

30 July 2017

Voullaire L

8

1 reference

30 July 2017

Larizza D

9

1 reference

30 July 2017

Giorda R

10

1 reference

30 July 2017

Weber JL

11

1 reference

30 July 2017

Ledbetter DH

12

1 reference

30 July 2017

Zuffardi O

13

1 reference

30 July 2017

language of work or name

English

0 references

publication date

26 February 2001

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

68

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30 July 2017

874-883

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30 July 2017

4

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Many paths to the top of the mountain: diverse evolutionary solutions to centromere structure.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Sequence, structure, and evolution of a complete human olfactory receptor gene cluster

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Odorant receptor genes in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

A selective difference between human Y-chromosomal DNA haplotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275641

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

29 October 2018

1 reference

12 December 2020

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/319506

1 reference

30 July 2017

1 reference

30 July 2017

1 reference