Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation. (Q35203064)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6881140%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation (English)

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21 October 2019

author name string

Cohen MM

1

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21 October 2019

Charrow J

2

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21 October 2019

Balkin NE

3

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21 October 2019

Harris CJ

4

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21 October 2019

language of work or name

English

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publication date

1 July 1983

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American Journal of Human Genetics

21 October 2019

published in

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21 October 2019

volume

35

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21 October 2019

issue

4

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21 October 2019

page(s)

635-644

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ANOTHER LOOK AT THE SINGLE-ACTIVE-X HYPOTHESIS

21 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=1685733

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review

28 July 2018

1 reference

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Failure of X inactivation in the autosomal segment of an X/A translocation

28 July 2018

1 reference

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Inactivation centers in the human X chromosome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X-chromosome inactivation and the Xg locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Two human X-autosome translocations identified by autoradiography and fluorescence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X-autosome translocation in normal mother and effectively 21-monosomic daughter.

28 July 2018

1 reference

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Banding analysis of abnormal karyotypes in spontaneous abortion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Familial x/x translocation: t(x;x)(p22;q13)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

A familial X-22 translocation with an extra X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Trisomy 13 with a 13-X translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Mosaic 14 trisomy in a female child with multiple abnormalities

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

A possible active segment on the inactive human X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Replication pattern of the X chromosomes in three X/autosomal translocations.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

46,XX/47XX, + 14 mosaicism in a liveborn infant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Partial trisomy 14q due to familial t(14q-,11q+) translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

A 5/X chromosomal translocation in a patient with premature menopause

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X-inactivation pattern in three cases of X/autosome translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Trisomy 14 mosaicism: case report and review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Non-inactivation of an X-Chromosome Locus in Man

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685733

Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+)

26 September 2018

1 reference

12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

12 December 2020

Mammalian X-chromosome inactivation

1 reference

12 December 2020

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1 reference

12 December 2020

A dynamic study in two new cases of X chromosome translocations

1 reference

12 December 2020

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

12 December 2020

Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)

1 reference

12 December 2020

DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES

1 reference

12 December 2020

[Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)]

1 reference

12 December 2020

An inhertited X‐autosome translocation in man

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6881140%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

6881140

1 reference