A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly (Q33178819)

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A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly

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English	A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly	scientific article	A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly (English)

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

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author name string

Joyce CA

1

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

Cabral de Almeida JC

2

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

Santa Rose AA

3

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

Correia P

4

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

Moraes L

5

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

Bastos E

6

1 reference

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23 July 2017

Llerena J Jr

7

1 reference

Europe PubMed Central

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23 July 2017

publication date

1 July 1999

1 reference

Europe PubMed Central

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23 July 2017

Clinical Genetics

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Europe PubMed Central

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23 July 2017

56

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Europe PubMed Central

PubMed publication ID

23 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

86-92

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature

1 reference

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21 January 2018

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

1 reference

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21 January 2018

Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Complex chromosomal rearrangement and multiple spontaneous abortions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

De novo complex chromosomal rearrangement in a woman with recurrent spontaneous abortion and one healthy daughter

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Familial complex chromosome rearrangement ascertained by in situ hybridisation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

The chromosomal basis of human infertility

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

21 January 2018

Complex chromosome rearrangements. Report of a new case and literature review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Complex chromosome rearrangements and congenital anomalies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A three way translocation in mother and daughter

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of a complex translocation in a newborn infant

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Complex chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560113.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.1999.560113.X

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 July 2017

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