(Q41341364)

29 September 2017

1 reference

title

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion (English)

1 reference

29 September 2017

Lorda-Sánchez I

1

1 reference

29 September 2017

Urioste M

2

1 reference

29 September 2017

Villa A

3

1 reference

29 September 2017

Carrascosa MC

4

1 reference

29 September 2017

Vázquez MS

5

1 reference

29 September 2017

Martínez A

6

1 reference

29 September 2017

Martínez-Frías ML

7

1 reference

29 September 2017

publication date

1 February 1997

1 reference

American Journal of Medical Genetics Part A

29 September 2017

published in

1 reference

29 September 2017

volume

68

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29 September 2017

issue

4

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29 September 2017

page(s)

476-480

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Insertional translocations: report of two new families and review of the literature

29 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Balanced nonacrocentric whole-arm reciprocal translocations: a de novo case and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Apparent Opitz BBBG syndrome with a partial duplication of 5p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Pure partial trisomy of the short arm of chromosome 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Duplication of a small segment of 5p due to maternal recombination within a paracentric shift.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

A clinical syndrome associated with dup(5p)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

A case report of a de novo tandem duplication (5p) (p14----pter)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Familial partial trisomy 5p resulting from segregation of an insertional translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970211%2968%3A4%3C476%3A%3AAID-AJMG21%3E3.0.CO%3B2-O

10.1002/(SICI)1096-8628(19970211)68:4<476::AID-AJMG21>3.0.CO;2-O

21 January 2018

Identifiers

DOI

1 reference

29 September 2017

1 reference