(Q51972949)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

S Aftimos

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Oei

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

311-315

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

Further delineation of the C (trigonocephaly) syndrome

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Structure and polymorphism of human telomere-associated DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Partial trisomy of the short arm of chromosome 3 (3p25 to 3pter). A distinct clinical entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

C syndrome with apparently normal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Brief clinical report: two children with de novo del(9p).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

"C" trigonocephaly syndrome: two additional cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Optiz trigonocephaly syndrome: report of two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

The 13q- deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Opitz trigonocephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Probable Opitz trigonocephaly C syndrome with medulloblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C311%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

10.1002/1096-8628(20001002)94:4<311::AID-AJMG9>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11038445%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference