(Q57234978)

1

0 references

Ilana Kohl

2

0 references

Monica Castro Varela

3

0 references

Cláudia I.E. de Castro

4

0 references

Débora R. Bertola

6

0 references

Charles M. Lourenço

7

0 references

Célia P. Koiffmann

American Journal of Medical Genetics

8

0 references

language of work or name

English

0 references

publication date

23 December 2009

0 references

published in

0 references

volume

152A

0 references

issue

1

0 references

page(s)

102-110

0 references

cites work

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Monosomy 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Telomeric position effect: from the yeast paradigm to human pathologies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Persistent activation of the zeta isoform of protein kinase C in the maintenance of long-term potentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33160