(Q70795702)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7239523%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Structural anomalies of the X chromosome and inactivation center (English)

1 reference

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13 October 2019

author name string

M G Mattei

1

1 reference

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13 October 2019

J F Mattei

2

1 reference

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13 October 2019

I Vidal

3

1 reference

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13 October 2019

F Giraud

4

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13 October 2019

publication date

1 January 1981

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13 October 2019

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13 October 2019

volume

56

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13 October 2019

issue

3

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13 October 2019

page(s)

401-408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7239523%20AND%20SRC:MED&resulttype=core&format=json

Abnormalities of human sex chromosomes. II. Turner's syndrome associated with the mosaicism 45,X-46, XX-p

13 October 2019

cites work

1 reference

12 December 2020

Familial X-autosomal translocation t (X, 2)

1 reference

12 December 2020

Deletion mapping of the human X chromosome

1 reference

12 December 2020

Dicentric X isochromosomes in man

1 reference

12 December 2020

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

1 reference

12 December 2020

Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis

1 reference

12 December 2020

X short arm deletion in a female subject with spontaneous sexual development

1 reference

12 December 2020

Short-arm deletion of an X chromosome (45,XO/46,XX p--)

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a dicentric isochromosome (X dic qi) in a case of gonadal dysgenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Position of the human X inactivation center on Xq

1 reference

12 December 2020

A case of partial trisomy 17 resulting from X-autosomal translocation

1 reference

12 December 2020

[Morphologically abnormal X-chromosomes]

1 reference

12 December 2020

Dicentric human X chromosomes

1 reference

12 December 2020

X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations

1 reference

12 December 2020

Spreading of inactivation in an (X;14) translocation

1 reference

12 December 2020

Cytogenetic studies in seven individuals with an i(Xq) karyotype

1 reference

12 December 2020

A second example of telomeric fusion 2 X chromosomes

1 reference

12 December 2020

Two human X-autosome translocations identified by autoradiography and fluorescence

1 reference

12 December 2020

Chromosome studies in 30 children with Turner's syndrome

1 reference

12 December 2020

A dynamic study in two new cases of X chromosome translocations

1 reference

12 December 2020

Structural aberrations of the X chromosome in man

1 reference

12 December 2020

Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism

1 reference

12 December 2020

Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter leads to cen leads to p22::p11 leads to qter)

1 reference

12 December 2020

Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Short arm deletion of an X chromosome, 46,XXp-

1 reference

12 December 2020

A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea

1 reference

12 December 2020

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

1 reference

12 December 2020

Differences in human X isochromosomes

1 reference

12 December 2020

Isochromosome X in man: different DNA replication patterns in the long arms

1 reference

12 December 2020

Cytogenetic studies in primary amenorrhoea

1 reference

12 December 2020

Gonadal dysgenesis in phenotypic female subjects. A review of eighty-seven cases, with cytogenetic studies in fifty-three

1 reference

12 December 2020

Isochromosome for the Short Arm of X with Primary Amenorrhoea and a Pituitary Tumour

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

X chromosome with deletion of the long arm

1 reference

12 December 2020

An inhertited X‐autosome translocation in man

1 reference

12 December 2020

Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)

1 reference

12 December 2020

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

1 reference

12 December 2020

Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi

1 reference

12 December 2020

Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Apparent deletion of X chromosome in a prepuberal girl

1 reference

12 December 2020

Apparently isodicentric but functionally monocentric X chromosome in man.

1 reference

12 December 2020

A case of 46,X,t(X;X)(pter to q27::q27 to pter)/47,X,t(X;X) (pter to q27::q27 to pter), + mar/48,XX,t(X;X)(pter to q27::q27 to pter), + mar and a functionally monocentric translocation X

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-

1 reference

12 December 2020

An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

1 reference

12 December 2020

BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

1 reference

12 December 2020

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter))

1 reference

12 December 2020

Turner syndrome with rare karyotypes

1 reference

12 December 2020

Center for Barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter)

1 reference

12 December 2020

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

1 reference

12 December 2020

Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes

1 reference

12 December 2020

Chromosomal and clinical findings in 110 females with Turner syndrome

1 reference

12 December 2020

Genetic and clinical considerations of long-arm deletion of the X chromosome

1 reference

12 December 2020

Reappraisal of a 46, X, i(Xp) karyotype as 46, X, del (Xq)

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

Gonadal dysgenesis with lymphocytic thyroiditis and deletion of the long arm of the X chromosome

1 reference

12 December 2020

Fusion of two apparently intact human X chromosomes

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00274702

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7239523%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference