(Q78513387)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

P Debeer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

R Mols

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

C Huysmans

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

K Devriendt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

W J M Van de Ven

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

J-P Fryns

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 November 2002

1 reference

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14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

410-414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

A deletion in chromosome 22 can cause DiGeorge syndrome

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

Segmental duplications: an 'expanding' role in genomic instability and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

AT-rich palindromes mediate the constitutional t(11;22) translocation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

The DNA sequence of human chromosome 22

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Neural tube defects as an X-linked condition

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Report of a third kindred with X-linked anencephaly/spina bifida

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Lack of mutations in ZIC3 in three families with neural tube defects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

X-linked situs abnormalities result from mutations in ZIC3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620510.X

7 January 2021

10.1034/J.1399-0004.2002.620510.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431258%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference