(Q51927723)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16041583%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Reciprocal translocations: a trap for cytogenetists? (English)

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4 January 2020

2

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4 January 2020

Mariano Rocchi

11

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4 January 2020

Sabrina Giglio

5

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4 January 2020

Maria Clara Bonaglia

7

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4 January 2020

Orsetta Zuffardi

13

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4 January 2020

Elena Rossi

14

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4 January 2020

4

Renzo Guerrini

1 reference

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4 January 2020

9

Carmelo Laganà

1 reference

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4 January 2020

author name string

Roberto Ciccone

1

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4 January 2020

Giuliana Gregato

3

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4 January 2020

Romeo Carrozzo

6

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4 January 2020

Emanuela Priolo

8

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4 January 2020

Romano Tenconi

10

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4 January 2020

Tiziano Pramparo

12

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4 January 2020

publication date

23 July 2005

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4 January 2020

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4 January 2020

volume

117

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4 January 2020

issue

6

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4 January 2020

page(s)

571-582

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https://scigraph.springernature.com/pub.10.1007/s00439-005-1324-x

4 January 2020

exact match

0 references

cites work

Automated screening for genomic imbalances using matrix-based comparative genomic hybridization.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1324-X

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

21 January 2018

1 reference

12 December 2020

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity

1 reference

12 December 2020

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

1 reference

12 December 2020

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

1 reference

12 December 2020

Chromosomal abnormalities in mendelian disorders

1 reference

12 December 2020

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

12 December 2020

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

12 December 2020

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

1 reference

12 December 2020

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

1 reference

12 December 2020

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

1 reference

12 December 2020

De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature

1 reference

12 December 2020

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

12 December 2020

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23).

1 reference

12 December 2020

Detection of large-scale variation in the human genome

1 reference

12 December 2020

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

12 December 2020

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

1 reference

12 December 2020

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

12 December 2020

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

1 reference

12 December 2020

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1 reference

12 December 2020

High resolution R- and G-banding on the same preparation

1 reference

12 December 2020

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

12 December 2020

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

1 reference

12 December 2020

Mutations in SOX2 cause anophthalmia

1 reference

12 December 2020

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

12 December 2020

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

1 reference

12 December 2020

Prader-Willi syndrome is caused by disruption of the SNRPN gene

1 reference

12 December 2020

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)

1 reference

12 December 2020

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

1 reference

12 December 2020

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

1 reference

12 December 2020

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

12 December 2020

10.1007/S00439-005-1324-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16041583%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference