(Q37120979)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

Margherita Cirillo Silengo

4 January 2020

author

14

1 reference

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4 January 2020

Mariano Rocchi

25

1 reference

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4 January 2020

Manuela De Gregori

1

1 reference

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4 January 2020

Francesca Novara

7

1 reference

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4 January 2020

Annalisa Vetro

8

1 reference

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4 January 2020

Elena Rossi

9

1 reference

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4 January 2020

Maria Clara Bonaglia

11

1 reference

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Giovanni Battista Ferrero

4 January 2020

13

1 reference

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4 January 2020

Elisa Fazzi

15

1 reference

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4 January 2020

Mariluce Riegel

24

1 reference

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4 January 2020

Corrado Romano

29

1 reference

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4 January 2020

Marco Fichera

30

1 reference

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4 January 2020

Teresa Mattina

31

1 reference

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4 January 2020

Sabrina Giglio

34

1 reference

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4 January 2020

Fortunato Lonardo

35

1 reference

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4 January 2020

Orsetta Zuffardi

43

1 reference

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4 January 2020

author name string

R Ciccone

2

1 reference

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4 January 2020

P Magini

3

1 reference

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4 January 2020

T Pramparo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

S Gimelli

5

1 reference

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4 January 2020

J Messa

6

1 reference

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4 January 2020

P Maraschio

10

1 reference

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4 January 2020

C Anichini

12

1 reference

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4 January 2020

A Zatterale

16

1 reference

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4 January 2020

R Fischetto

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

C Previderé

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

S Belli

19

1 reference

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4 January 2020

A Turci

20

1 reference

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4 January 2020

G Calabrese

21

1 reference

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4 January 2020

F Bernardi

22

1 reference

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4 January 2020

E Meneghelli

23

1 reference

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4 January 2020

S Guerneri

26

1 reference

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4 January 2020

F Lalatta

27

1 reference

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4 January 2020

L Zelante

28

1 reference

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4 January 2020

G Arrigo

32

1 reference

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4 January 2020

M Zollino

33

1 reference

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4 January 2020

A Bonfante

36

1 reference

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4 January 2020

A Ferlini

37

1 reference

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4 January 2020

F Cifuentes

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

H Van Esch

39

1 reference

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4 January 2020

L Backx

40

1 reference

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4 January 2020

A Schinzel

41

1 reference

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4 January 2020

J R Vermeesch

42

1 reference

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4 January 2020

language of work or name

English

0 references

publication date

31 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

4 January 2020

published in

1 reference

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4 January 2020

volume

44

1 reference

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4 January 2020

issue

12

1 reference

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4 January 2020

page(s)

750-762

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

DNA damage checkpoints: from initiation to recovery or adaptation

4 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Chromosomal translocations mediated by palindromic DNA.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

DNA structures at chromosomal translocation sites

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Male infertility in reciprocal translocation carriers: the sex body affair.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

The new cytogenetics: blurring the boundaries with molecular biology

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Parental origin and timing of de novo Robertsonian translocation formation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

14 September 2017

Sex matters in meiosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Recombinational DNA double-strand breaks in mice precede synapsis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Synaptonemal complex analysis in human male infertility

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Genetic variation affects de novo translocation frequency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Cytogenetics of infertile men.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Reciprocal translocations: a trap for cytogenetists?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652810

Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex

4 December 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

Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient

1 reference

12 December 2020

Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency

1 reference

12 December 2020

Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation

1 reference

12 December 2020

Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility

1 reference

12 December 2020

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.052787

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17766364%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

17766364

1 reference