(Q35239185)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

Wong AC

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Ning Y

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Clark K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Ledbetter DH

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

McDermid HE

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Flint J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

language of work or name

English

0 references

publication date

1 January 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

113-120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

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

22 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Healing of broken human chromosomes by the addition of telomeric repeats

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Low acrosin activity in a subgroup of men with idiopathic infertility dose not correlate with sperm density, percent motility, curvilinear velocity, or linearity.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

The role of cytologic NOR variants in the etiology of trisomy 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Primary structure of human proacrosin deduced from its cDNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Systematic cloning of human minisatellites from ordered array charomid libraries.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

STS for minisatellite MS607 (D22S163).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

A TaqI RFLP for the human arylsulfatase A gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Acrosin, the peculiar sperm-specific serine protease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Origin of human chromosome 2: an ancestral telomere-telomere fusion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

A map of 22 loci on human chromosome 22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Molecular cloning, sequencing and restriction mapping of the genomic sequence encoding human proacrosin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Inhibition of acrosin activity with a trypsin inhibitor blocks human sperm penetration of the zona pellucida.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Evidence that acrosin activity is important for the development of fusibility of mammalian spermatozoa with the oolemma: inhibitor studies using the golden hamster.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

Labeling of the centromeric region on human chromosome 8 by in situ hybridization

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

A high-density YAC contig map of human chromosome 22

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712560

A study of sperm acrosin in patients with unexplained infertility

26 September 2018

1 reference

12 December 2020

Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint

1 reference

12 December 2020

How many genes in the human genome?

1 reference

12 December 2020

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

12 December 2020

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981954%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference