(Q51930316)

17 April 2018

title

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. (English)

1 reference

17 April 2018

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5

Kym M Boycott

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17 April 2018

Melissa T Carter

1

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17 April 2018

Stephanie A St Pierre

series ordinal

2

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17 April 2018

Elaine H Zackai

series ordinal

3

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17 April 2018

Beverly S Emanuel

series ordinal

4

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17 April 2018

language of work or name

English

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publication date

1 August 2009

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

149A

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17 April 2018

page(s)

1712-1721

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17 April 2018

issue

8

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17 April 2018

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Phenotypic variability of the cat eye syndrome. Case report and review of the literature

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Partial 11q trisomy syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Familial occurrence of trisomy 22.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Comparative mapping of the constitutional and tumor-associated 11;22 translocations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

The problem of partial trisomy 22 reconsidered

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Trisomy 22. Two new cases and delineation of the phenotype

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Upper airway malformation associated with partial trisomy 11q.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Fine mapping of the constitutional translocation t(11;22)(q23;q11).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

[Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author's transl)]

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Tertiary trisomy (22q11q),47,+der(22),t(11;22).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733334

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32957

Partial trisomy 11q and familial translocation 11--22 (author's transl)

21 January 2018

1 reference

12 December 2020

Trisomy 22: a clinically identifiable syndrome

1 reference

12 December 2020

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

1 reference

12 December 2020

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

12 December 2020

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

Congenital heart disease in supernumerary der(22),t(11;22) syndrome

1 reference

12 December 2020

Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22

1 reference

12 December 2020

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint

1 reference

12 December 2020

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32957

1 reference

17 April 2018

PMCID

2733334

1 reference

17 April 2018

PubMed ID

19606488

1 reference

17 April 2018