(Q51970717)

19 April 2018

title

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. (English)

1 reference

19 April 2018

author

Jonathan Flint

6

1 reference

19 April 2018

author name string

de Vries BB

1

1 reference

19 April 2018

Bitner-Glindzicz M

2

1 reference

19 April 2018

Knight SJ

3

1 reference

19 April 2018

Tyson J

4

1 reference

19 April 2018

MacDermont KD

5

1 reference

19 April 2018

Malcolm S

7

1 reference

19 April 2018

Winter RM

8

1 reference

19 April 2018

publication date

1 December 2000

1 reference

19 April 2018

published in

Clinical Genetics

1 reference

19 April 2018

volume

58

1 reference

19 April 2018

page(s)

483-487

1 reference

19 April 2018

issue

6

1 reference

19 April 2018

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

1 reference

Fragile X mutation and FG syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

STS for minisatellite MS607 (D22S163).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

A gene for FG syndrome maps in the Xq12-q21.31 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

inferred from DOI database lookup

7 January 2021

based on heuristic

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580610.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2000.580610.X

1 reference

19 April 2018

PubMed ID

11149619

1 reference

19 April 2018