Gonadal dysgenesis in a patient with an X;3 translocation: case report and review (Q33668032)

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17 October 2019

title

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401133%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

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N J Carpenter

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17 October 2019

B Say

series ordinal

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17 October 2019

D Browning

series ordinal

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17 October 2019

language of work or name

English

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publication date

1 June 1980

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Journal of Medical Genetics

17 October 2019

published in

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17 October 2019

volume

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17 October 2019

issue

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17 October 2019

page(s)

216-221

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Possible X-autosomal translocation in a girl with gonadal dysgenesis

17 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=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Two human X-autosome translocations identified by autoradiography and fluorescence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Letter: A case of primary amenorrhea associated with X-autosomal translocation (46,X,t(Xq minus;5q plus))

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

X inactivation in man: a woman with t(Xq--;12q+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Cytogenetic and clinical study on 100 cases of primary amenorrhoea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

A familial X-22 translocation with an extra X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Center for Barr body condensation on the proximal part of the human Xq: a hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

An analysis of the break points of structural rearrangements in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Retinoblastoma and D-chromosome deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Follow-up on a human X-autosome translocation first studied in 1963 and 1964

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

X-autosome translocations: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Four new cases of X-autosome translocation in man (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048550

An inhertited X‐autosome translocation in man

21 June 2018

1 reference

12 December 2020

[Sterility and familial t (1q-;Xq+) translocation]

1 reference

12 December 2020

Banding patterns and autoradiographic studies of cells with an X-autosome translocation

1 reference

12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

12 December 2020

[X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange]

1 reference

12 December 2020

Secondary amenorrhea associated with balanced X-autosome translocation

1 reference

12 December 2020

Presumptive evidence of two active X chromosomes in somatic cells of a human female

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

Identifiers

DOI

10.1136/JMG.17.3.216

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401133%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401133%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

PubMed publication ID

7401133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401133%20AND%20SRC:MED&resulttype=core&format=json