(Q81524502)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17971834%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17971834%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1

Barbara R Migeon

1 reference

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9 January 2020

author name string

Kara Pappas

2

1 reference

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9 January 2020

Gail Stetten

3

1 reference

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9 January 2020

Carolyn Trunca

4

1 reference

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9 January 2020

Patricia A Jacobs

5

1 reference

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9 January 2020

publication date

31 October 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17971834%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 January 2020

published in

1 reference

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9 January 2020

volume

16

1 reference

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9 January 2020

issue

2

1 reference

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9 January 2020

page(s)

153-162

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201944

9 January 2020

exact match

0 references

cites work

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Nuclear sex in triploid XXY human cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Stability of the “two active X” phenotype in triploid somatic cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

X chromosome inactivation: theme and variations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Studies of X-chromosome inactivation in trisomies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Parental and meiotic origin of triploidy in the embryonic and fetal periods

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Phenotype of triploid embryos.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Karyotype, phenotype and parental origin in 19 cases of triploidy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Species differences in TSIX/Tsix reveal the roles of these genes in X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Origin of human trisomics and polyploids

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

The sex-chromosome constitution and early postimplantation development of diandric triploid mouse embryos.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Parental source of chromosome imprinting and its relevance for X chromosome inactivation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Trisomy 1 in a clinically recognized IVF pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Trisomy 1 in a case of a missed abortion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Duplication of distal 19q: clinical report and review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Confirmation of proximal 1q duplication using fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Cytogenetic recognition of chromosomal duplication [dup(l)(p31.4 -? p22.1)] and the detection of three different alleles at the PGM1locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Epilepsy and trisomy 19q--different seizure patterns in a brother and a sister

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Duplication of 5q15-q23.2: case report and literature review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Proximal trisomy 1q in a girl with developmental delay and minor anomalies.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial trisomy for 19q due to paternal 17/19 reciprocal translocation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Duplication of part of chromosome 1q: clinical report and review of literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Duplication within chromosome 5q characterized by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Prenatal diagnosis of complete sole trisomy 1q.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

A rare case of a de novo dup(19q) associated with a mild phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

De novo complete trisomy 5p: clinical report and FISH studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial trisomy 5q: three different phenotypes depending on different duplication segments

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Trisomy for the distal third of the long arm of chromosome 19 in brother and sister

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Interstitial duplication 19p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Trisomy 5p. A case report and review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Distal 19q duplication

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Interchromosomal interactions and olfactory receptor choice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201944

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201944

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17971834%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference