(Q62573991)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680362%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680362%20AND%20SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

16 December 2019

main subject

1 reference

1 reference

11

1 reference

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16 December 2019

Ferdinand von Eggeling

23

1 reference

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16 December 2019

6

Britta Belitz

1 reference

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16 December 2019

author name string

Heike Starke

1

1 reference

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16 December 2019

Angela Nietzel

2

1 reference

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16 December 2019

Anja Weise

3

1 reference

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16 December 2019

Anita Heller

4

1 reference

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16 December 2019

Kristin Mrasek

5

1 reference

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16 December 2019

Christine Kelbova

7

1 reference

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16 December 2019

Marianne Volleth

8

1 reference

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16 December 2019

Beate Albrecht

9

1 reference

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16 December 2019

Beate Mitulla

10

1 reference

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16 December 2019

Iris Bartels

12

1 reference

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16 December 2019

Sabine Adolph

13

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16 December 2019

Andreas Dufke

14

1 reference

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16 December 2019

Sylke Singer

15

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16 December 2019

Markus Stumm

16

1 reference

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16 December 2019

Rolf-Dieter Wegner

17

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16 December 2019

Jörg Seidel

18

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16 December 2019

Angela Schmidt

19

1 reference

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16 December 2019

Alma Kuechler

20

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16 December 2019

Isolde Schreyer

21

1 reference

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16 December 2019

Uwe Claussen

22

1 reference

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16 December 2019

Thomas Liehr

24

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16 December 2019

publication date

16 September 2003

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16 December 2019

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16 December 2019

volume

114

1 reference

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16 December 2019

issue

1

1 reference

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16 December 2019

page(s)

51-67

1 reference

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Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications

16 December 2019

cites work

1 reference

12 December 2020

Pitfalls of rapid prenatal diagnosis using the interphase nucleus

1 reference

12 December 2020

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

1 reference

12 December 2020

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.

1 reference

12 December 2020

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

1 reference

12 December 2020

Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8.

1 reference

12 December 2020

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

12 December 2020

Small marker chromosome identification in metaphase and interphase using centromeric multiplex fish (CM-FISH).

1 reference

12 December 2020

AcroM fluorescent in situ hybridization analyses of marker chromosomes

1 reference

12 December 2020

A supernumerary marker chromosome originating from two different regions of chromosome 18.

1 reference

12 December 2020

Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.

1 reference

12 December 2020

Chromatin modification and epigenetic reprogramming in mammalian development

1 reference

12 December 2020

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p

1 reference

12 December 2020

Centromeres and variant histones: what, where, when and why?

1 reference

12 December 2020

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)

1 reference

12 December 2020

Maternal UPD 20 in a hyperactive child with severe growth retardation

1 reference

12 December 2020

Mosaic pericentric inversion of chromosome 2.

1 reference

12 December 2020

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

12 December 2020

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

1 reference

12 December 2020

Origins of accessory small ring marker chromosomes derived from chromosome 1.

1 reference

12 December 2020

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases

1 reference

12 December 2020

Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.

1 reference

12 December 2020

Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB).

1 reference

12 December 2020

Neocentromeres: role in human disease, evolution, and centromere study

1 reference

12 December 2020

A search for uniparental disomy in carriers of supernumerary marker chromosomes

1 reference

12 December 2020

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

1 reference

12 December 2020

Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis

1 reference

12 December 2020

De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature

1 reference

12 December 2020

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

1 reference

12 December 2020

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes

1 reference

12 December 2020

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

1 reference

12 December 2020

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

1 reference

12 December 2020

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

1 reference

12 December 2020

Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

1 reference

12 December 2020

Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report

1 reference

12 December 2020

1 reference

12 December 2020

Enlarged chromosome 13 p‐arm hiding a cryptic partial trisomy 6p22.2‐pter

1 reference

12 December 2020

Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting

1 reference

12 December 2020

Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities

1 reference

12 December 2020

Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia.

1 reference

12 December 2020

Forty four probands with an additional "marker" chromosome.

1 reference

12 December 2020

A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).

1 reference

12 December 2020

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

12 December 2020

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes

1 reference

12 December 2020

Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11

1 reference

12 December 2020

Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes

1 reference

12 December 2020

First patient with trisomy 21 accompanied by an additional der(4)(:p11 ? q11:) plus partial uniparental disomy 4p15-16

1 reference

12 December 2020

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

1 reference

12 December 2020

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

1 reference

12 December 2020

Identification of de novo chromosomal markers and derivatives by spectral karyotyping

1 reference

12 December 2020

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

1 reference

12 December 2020