(Q24670101)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

16 September 2022

4

P. I. Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

16 September 2022

author name string

L. Pentao

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

16 September 2022

R. A. Lewis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

16 September 2022

D. H. Ledbetter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

16 September 2022

J. R. Lupski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

full work available at URL

16 September 2022

language of work or name

English

0 references

publication date

April 1992

0 references

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1347967/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1347967/?tool=EBI

16 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

https://europepmc.org/articles/PMC1682625

16 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

https://europepmc.org/articles/PMC1682625?pdf=render

16 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347967

American Journal of Human Genetics

16 September 2022

published in

0 references

volume

50

0 references

page(s)

690-9

0 references

issue

4

0 references

cites work

Uniparental disomy as a mechanism for human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q).

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

The origin of mosaic Down syndrome: four cases with chromosome markers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Differential activity of maternally and paternally derived chromosome regions in mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Transgenes as molecular probes for genomic imprinting.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence (pHHH208) on chromosome 14 [D14S19].

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence (pMCT118) on chromosome 1p [D1S80]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence (pMCOC12) on chromosome 14 [D14S20]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence (pCMM62) on chromosome 14 [D14S21]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence pMLJ14 on chromosome 14 [D14S13]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence pEFZ18.2 on chromosome 14 [D14S17]

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isolation and mapping of a polymorphic DNA sequence pYNH24 on chromosome 2 (D2S44).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

A human single-copy DNA probe (DR 47) detects a Taq I RFLP on chromosome 9 (D9S5).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Dinucleotide repeat polymorphism at the D14S43 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Dinucleotide repeat polymorphism at the D14S45 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Maternal uniparental disomy for chromosome 14

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Typical total monochromacy. A histological and psychophysical study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Uniparental disomy and gene localization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Molecular characterization of a patient with del(1)(q23-q25).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682625

Congenital total color blindness: a clincopathological report

30 May 2018

1 reference

12 December 2020

Paradoxical pupil in congenital achromatopsia

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Receptors in the monochromat eye

1 reference

12 December 2020

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

1 reference

12 December 2020

Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis

1 reference

12 December 2020

Color vision deficiency

1 reference

12 December 2020

Homologous 14q14q Robertsonian translocation in man

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

How parents make their mark on genes

1 reference

12 December 2020