(Q35669501)

9 August 2017

1 reference

title

22q13 deletion syndrome: an update and review for the primary pediatrician (English)

1 reference

9 August 2017

22q13 deletion syndrome

1 reference

2

Jeannie Visootsak

1 reference

9 August 2017

Joaquim M Havens

1

1 reference

9 August 2017

Mary C Phelan

series ordinal

3

1 reference

9 August 2017

John M Graham

series ordinal

4

1 reference

9 August 2017

language of work or name

1 reference

1 January 2004

1 reference

9 August 2017

1 reference

9 August 2017

43

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9 August 2017

1

1 reference

9 August 2017

43-53

1 reference

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

9 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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/10.1177%2F000992280404300106

Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

21 January 2018

22q13 deletion syndrome

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

FISH-mapping of a 100-kb terminal 22q13 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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/10.1177%2F000992280404300106

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Enlightening the postsynaptic density

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Signal-processing machines at the postsynaptic density

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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/10.1177%2F000992280404300106

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

Intracranial arachnoid cysts in children: related signs and associated anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992280404300106

10.1177/000992280404300106

21 January 2018

Identifiers

DOI

0 references

1 reference