(Q41074063)

26 September 2017

title

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes (English)

1 reference

26 September 2017

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

author name string

J. A. Crolla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

P. Howard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

C. Mitchell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

F. L. Long

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

N. R. Dennis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9375728

25 November 2024

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=9375728

25 November 2024

publication date

1 November 1997

1 reference

26 September 2017

12 November 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9375728

full work available at URL

25 November 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

25 November 2024

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

American Journal of Medical Genetics Part A

25 November 2024

published in

1 reference

26 September 2017

volume

72

1 reference

26 September 2017

issue

4

1 reference

26 September 2017

page(s)

440-447

1 reference

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

26 September 2017

cites work

1 reference

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Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel

21 January 2018

1 reference

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Forty four probands with an additional "marker" chromosome

21 January 2018

1 reference

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A microsatellite-based multipoint index map of human chromosome 22.

21 January 2018

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Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16

21 January 2018

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A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man

21 January 2018

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Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

21 January 2018

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Identification of marker chromosomes in thirteen patients using FISH probing

21 January 2018

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Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

21 January 2018

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Quantitative comparison of FMR1 gene expression in normal and premutation alleles

21 January 2018

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The 1993-94 Généthon human genetic linkage map

21 January 2018

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Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

21 January 2018

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Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

21 January 2018

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Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome

21 January 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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

21 January 2018

1 reference

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Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Dinucleotide repeat polymorphism at the D22S351 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Maternal uniparental disomy 22 has no impact on the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Prenatal identification of small mosaic markers of different chromosomal origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

21 January 2018

1 reference

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A second-generation linkage map of the human genome

21 January 2018

1 reference

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Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes

21 January 2018

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Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22

21 January 2018

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Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridization

21 January 2018

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A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Cat-eye syndrome with different marker chromosomes in a mother and daughter

21 January 2018

1 reference

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Characterization of the supernumerary chromosome in cat eye syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome

21 January 2018

1 reference

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Variations in alphoid DNA sequences escape detection of aneuploidy at interphase by FISH technique

21 January 2018

1 reference

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Archives of ophthalmology (Chicago, Ill. : 1929)

21 January 2018

19

34

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Duane

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1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

A search for uniparental disomy in carriers of supernumerary marker chromosomes

25 November 2024

27

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

25 November 2024

31

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

25 November 2024

35

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

Clinical and molecular analysis of five inv dup(15) patients.

25 November 2024

43

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

25 November 2024

Identifiers

10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

1 reference

26 September 2017

1 reference