Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error (Q35200911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

title

Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

author name string

Schwartz S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

Schwartz MF

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

Panny SR

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

Peterson CJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

Waters E

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

Cohen MM

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

language of work or name

English

0 references

publication date

1 May 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

page(s)

741-750

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND NONSPHEROCYTIC CONGENITAL HEMOLYTIC ANEMIA

27 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

A possible exception to the critical region hypothesis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Translocation t(X;1) and the "critical region hypothesis".

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Inherited partial X chromosome duplication in a mentally retarded male

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Glucose-6-phosphate dehydrogenase deficiency and related disorders of the pentose phosphate pathway

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Fluorometric assay of proteins in the nanogram range

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

High Resolution of Human Chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Possible intrachromosomal duplication in a case of trisomy 9p.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Insertional translocation into the X chromosome of a 46,XY male

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Pilot scale purification of α-galactosidase A from Cohn Fraction IV-1 of human plasma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Factors involved in differential Giemsa-staining of sister chromatids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Tissue-specific heterogeneity in DNA replication patterns of human X chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684824

Deletion mapping of the human X chromosome

26 September 2018

1 reference

12 December 2020

Probable inverted tandem duplication of Xp in a 46,Xp Y boy

1 reference

12 December 2020

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

1 reference

12 December 2020

Duplication 12q mosaicism in two unrelated patients with a similar syndrome

1 reference

12 December 2020

X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter

1 reference

12 December 2020

A de novo tandem duplication 15(q21 leads to qter) mosaic

1 reference

12 December 2020

The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm

1 reference

12 December 2020

Regional localization of α-galactosidase ( GLA ) to Xpter→q22, hexosaminidase B ( HEXB ) to 5q13→qter, and arylsulfatase B ( ARSB ) to5pter→q13

1 reference

12 December 2020

Inherited tandem duplication dup(X) (q131-q212) in a male proband

1 reference

12 December 2020

Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3459356 AND SRC:MED&resulttype=core&format=json

27 September 2019

PubMed publication ID

3459356

1 reference