13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review (Q35809316)

10 August 2017

1 reference

title

13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review (English)

1 reference

10 August 2017

1 reference

Gregory Costain

1

1 reference

10 August 2017

Candice K Silversides

2

1 reference

10 August 2017

Christian R Marshall

3

1 reference

10 August 2017

Mary Shago

4

1 reference

10 August 2017

Nicholas Costain

5

1 reference

10 August 2017

Anne S Bassett

6

1 reference

10 August 2017

3 July 2010

1 reference

International Journal of Cardiology

10 August 2017

1 reference

10 August 2017

146

1 reference

10 August 2017

2

1 reference

10 August 2017

134-139

1 reference

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Genetic syndromes and congenital heart defects: how is surgical management affected?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Chromosomal abnormalities among children born with conotruncal cardiac defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Genes in congenital heart disease: atrioventricular valve formation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Radial aplasia and chromosome 22q11 deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Unbalanced 13;18 translocation and Williams syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Sporadic bilateral retinoblastoma and 13q- chromosomal deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Chromosomal anomalies in patients with retinoblastoma.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Interstitial deletion 13q syndromes: a report on two unrelated patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Interstital deletion of 13q associated with retinoblastoma and congenital malformations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Ethical authorship and publishing.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Retinoblastoma and chromosome 13 deletion.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295832

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism

15 November 2018

1 reference

12 December 2020

The VATER association. Analysis of 46 patients

1 reference

12 December 2020

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux

1 reference

12 December 2020

Frequent association of 22q11.2 deletion with tetralogy of Fallot

1 reference

12 December 2020

Circulatory effects of acute bradycardia in the human fetus as studied by Doppler ultrasound

1 reference

12 December 2020

Aneurysm of the ductus arteriosus in a neonate with 13q-deletion

1 reference

12 December 2020

Dq-, Dr and retinoblastoma

1 reference

12 December 2020

Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13

1 reference

12 December 2020

[Retinoblastoma and interstitial deletion of 13q (author's transl)]

1 reference

12 December 2020

Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D

1 reference

12 December 2020

Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14

1 reference

12 December 2020

Deletion of 13q in two patients with retinoblastoma, one probably due to 13q- mosaicism in the mother

1 reference

12 December 2020

A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q

1 reference

12 December 2020

10.1016/J.IJCARD.2010.05.070

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference