Partial trisomy 13q21?qter de novo due to a recombinant chromosome rec(13)dup q (Q66985290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:527979%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

title

Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:527979%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

Partial trisomy 13q21?qter de novo due to a recombinant chromosome rec(13)dup q (English)

1 reference

26 June 2023

main subject

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A527979

9 July 2022

trisomy

1 reference

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9 July 2022

1 reference

26 June 2023

author name string

M. Habedank

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A527979

9 July 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=527979

9 July 2022

publication date

1 November 1979

1 reference

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full work available at URL

1 September 2019

http://link.springer.com/content/pdf/10.1007/BF00284602.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00284602/fulltext.html

26 June 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00284602

26 June 2023

1 reference

26 June 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:527979%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:527979%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

issue

1

1 reference

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1 September 2019

page(s)

91-99

1 reference

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Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy

1 September 2019

cites work

1 reference

12 December 2020

Translocation-normal mosaicism in D1 trisomy

1 reference

12 December 2020

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy

1 reference

12 December 2020

Autosomal chromosome aberrations

1 reference

12 December 2020

Trisomy 13 with a 13-X translocation

1 reference

12 December 2020

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

1 reference

12 December 2020

Patau's syndrome with D1 duplication‐deficiency derived from a maternal D group pericentric inversion

1 reference

12 December 2020

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

1 reference

12 December 2020

Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family

1 reference

12 December 2020

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13

1 reference

12 December 2020

A family with balanced D1?Cs-translocation carriers and unbalanced offspring

1 reference

12 December 2020

Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim

1 reference

12 December 2020

Partial trisomy 13: karyotype 46,XY,-6, plus t(13q,6q)

1 reference

12 December 2020

Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

1 reference

12 December 2020

Clinical and Neuropathological Investigations of Four Cases of Holoprosencephaly with Arhinencephaly

1 reference

12 December 2020

Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over

1 reference

12 December 2020

A Chromosome 13q+in a patient with characteristics of the trisomy 13 syndrome

1 reference

12 December 2020

[Partial trisomy 13 (13q14 leads to 13qter) in mosaic (author's transl)]

1 reference

12 December 2020

Localization of genes on chromosome 13: analysis of two kindreds

1 reference

12 December 2020

Trisomy for the distal segment of chromosome 13: a new syndrome

1 reference

12 December 2020

Inherited pericentric inversion of a group D (13-15) chromosome

1 reference

12 December 2020

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals

1 reference

12 December 2020

Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndrome

1 reference

12 December 2020

Deoxyribonucleic acid replication and mapping of the D-1 chromosome. A study of two patients with partial trisomy D-1

1 reference

12 December 2020

Elucidation of a pericentric inversion of a D-group chromosome in the mother of a child with Patau's syndrome

1 reference

12 December 2020

An unusual partial trisomy 13

1 reference

12 December 2020

Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.

1 reference

12 December 2020

Partial trisomy 13 due to maternal translocation t(2;13)

1 reference

12 December 2020