Molecular analysis of the 18q- syndrome--and correlation with phenotype. (Q35194073)

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13 October 2019

review article

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title

Molecular analysis of the 18q- syndrome--and correlation with phenotype (English)

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13 October 2019

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A D Kline

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13 October 2019

M E White

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13 October 2019

R Wapner

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13 October 2019

K Rojas

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13 October 2019

L G Biesecker

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13 October 2019

J Kamholz

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13 October 2019

E H Zackai

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13 October 2019

M Muenke

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13 October 2019

C I Scott

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13 October 2019

J Overhauser

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13 October 2019

language of work or name

English

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publication date

1 May 1993

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American Journal of Human Genetics

13 October 2019

published in

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13 October 2019

volume

52

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13 October 2019

issue

5

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13 October 2019

page(s)

895-906

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describes a project that uses

13 October 2019

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Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5

1 reference

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Isolation and characterization of interspecific heat-resistant hybrids between a temperature-sensitive chinese hamster cell asparaginyl-tRNA synthetase mutant and normal human leukocytes: assignment of human asnS gene to chromosome 18.

13 July 2018

1 reference

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Use of cultured human cells for biochemical analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

1 reference

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Parental origin of chromosome 15 deletion in Prader-Willi syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation

13 July 2018

1 reference

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Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult

13 July 2018

1 reference

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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome

13 July 2018

1 reference

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Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Human gastrin-releasing peptide gene maps to chromosome band 18q21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

A fine structure physical map of the short arm of chromosome 5

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Structure of the gene for human plasminogen activator inhibitor-2. The nearest mammalian homologue of chicken ovalbumin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

The human myelin-basic-protein gene: chromosomal localization and RFLP analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Identification of a chromosome 18q gene that is altered in colorectal cancers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Late hydrocephalus after arrest and resolution of neonatal post-hemorrhagic hydrocephalus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Neurologic manifestations in 18q- syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Repetitive DNA (TGGA)n 5′ to the human myelin basic protein gene: A new form of oligonucleotide repetitive sequence showing length polymorphism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Somatic cell hybrid deletion map of human chromosome 18

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

High Resolution of Human 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=1682039

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

18q- syndrome in mother and daughter

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

A child with 18q- syndrome and cerebellar astrocytoma.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682039

Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter)

27 September 2018

1 reference

12 December 2020

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome

1 reference

12 December 2020

Familial 18 q- syndrome

1 reference

12 December 2020

Familial occurrence of 18q

1 reference

12 December 2020

Clinical and chromosomal studies of the 18q-syndrome

1 reference

12 December 2020

Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings

1 reference

12 December 2020

Routine application of high resolution chromosome analysis

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8488839 AND SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8488839

1 reference