Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature. (Q54551808)

31 May 2018

title

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature. (English)

1 reference

31 May 2018

author name string

Laura I Rudaks

1

1 reference

31 May 2018

Jillian K Nicholl

2

1 reference

31 May 2018

Drago Bratkovic

3

1 reference

31 May 2018

Christopher P Barnett

4

1 reference

31 May 2018

language of work or name

English

0 references

publication date

7 November 2011

1 reference

31 May 2018

American Journal of Medical Genetics

published in

1 reference

31 May 2018

volume

155A

1 reference

31 May 2018

issue

12

1 reference

31 May 2018

page(s)

3139-3143

1 reference

31 May 2018

Terminal deletion of chromosome 15q26.1: case report and brief literature review

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Two patients with ring chromosome 15 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Drayer's syndrome of intellectual disability, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34310

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34310

1 reference

31 May 2018

1 reference

31 May 2018