Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? (Q28306227)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21358985%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? (English)

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23 January 2020

3

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23 January 2020

author name string

Maj A Hultén

series ordinal

1

1 reference

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23 January 2020

Jon Jonasson

series ordinal

2

1 reference

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23 January 2020

Erik Iwarsson

series ordinal

4

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23 January 2020

language of work or name

English

0 references

publication date

1 September 2010

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23 January 2020

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23 January 2020

volume

11

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23 January 2020

issue

6

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23 January 2020

page(s)

409-419

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23 January 2020

1 reference

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Molecular genetic analysis of Down syndrome

20 March 2017

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Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1

20 March 2017

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Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer.

20 March 2017

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Chromosome 21 and down syndrome: from genomics to pathophysiology

20 March 2017

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Revised estimates of the maternal age specific live birth prevalence of Down's syndrome

20 March 2017

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Cytogenetic contribution to uniparental disomy (UPD).

20 March 2017

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Cholesterol changes in Alzheimer's disease: methods of analysis and impact on the formation of enlarged endosomes

29 September 2017

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Truncated beta-amyloid peptide channels provide an alternative mechanism for Alzheimer's Disease and Down syndrome

29 September 2017

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Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue

29 September 2017

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The role of chromosome 21 in hematology and oncology

29 September 2017

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Increased fibrillar amyloid-{beta} burden in normal individuals with a family history of late-onset Alzheimer's

29 September 2017

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miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia

29 September 2017

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Evidence linking genetics, environment, and epigenetics to impaired DNA repair in Alzheimer's disease

29 September 2017

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Human interphase chromosomes: a review of available molecular cytogenetic technologies.

29 September 2017

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On the paternal origin of trisomy 21 Down syndrome

29 September 2017

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Acute leukemias in children with Down syndrome

29 September 2017

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

29 September 2017

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Alzheimer Abeta peptide induces chromosome mis-segregation and aneuploidy, including trisomy 21: requirement for tau and APP.

29 September 2017

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Cancer linked to Alzheimer disease but not vascular dementia

29 September 2017

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Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

29 September 2017

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GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny.

29 September 2017

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Down's syndrome: protection against cancer and the therapeutic potential of DSCR1.

29 September 2017

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Epiblast-derived stem cells in embryonic and adult tissues.

29 September 2017

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On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

29 September 2017

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Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology

29 September 2017

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

29 September 2017

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Aneuploidy: from a physiological mechanism of variance to Down syndrome

29 September 2017

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Comparison of modes of ascertainment for mosaic vs complete trisomy 21.

29 September 2017

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Constitutional aneuploidy and cancer predisposition

29 September 2017

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The TEL-AML1 leukemia fusion gene dysregulates the TGF-beta pathway in early B lineage progenitor cells

29 September 2017

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Backtracking of leukemic clones to birth

29 September 2017

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Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

29 September 2017

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Testicular dysgenesis syndrome: foetal origin of adult reproductive problems

29 September 2017

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Malignancy in children with trisomy 21.

29 September 2017

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Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome

29 September 2017

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Toward a genetics of cancer resistance

29 September 2017

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Chromosomal mosaicism goes global

29 September 2017

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Genetic susceptibility to childhood leukaemia

29 September 2017

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Aetiology of childhood acute leukaemias: current status of knowledge

29 September 2017

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Hydrops fetalis, thickened placenta and other sonographic findings in a low-level trisomy 21 mosaicism: a case report

29 September 2017

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On the origin of trisomy 21 Down syndrome

29 September 2017

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Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cells.

29 September 2017

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Epidemiology of Down syndrome

29 September 2017

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Haematology of Down syndrome

29 September 2017

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Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

29 September 2017

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29 September 2017

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Genetic abnormalities involved in t(12;21) TEL-AML1 acute lymphoblastic leukemia: analysis by means of array-based comparative genomic hybridization

29 September 2017

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The dysregulation of the cell cycle and the diagnosis of Alzheimer's disease.

29 September 2017

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Aneuploidy in the normal and diseased brain.

29 September 2017

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A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

29 September 2017

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Prenatal origin of childhood AML occurs less frequently than in childhood ALL.

29 September 2017

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29 September 2017

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29 September 2017

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An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics.

29 September 2017

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29 September 2017

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

29 September 2017

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Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy.

29 September 2017

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Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

29 September 2017

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Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes

29 September 2017

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Backtracking leukemia to birth: identification of clonotypic gene fusion sequences in neonatal blood spots

29 September 2017

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Down syndrome phenotypes: the consequences of chromosomal imbalance

29 September 2017

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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

29 September 2017

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Chromosome in situ suppression hybridisation in clinical cytogenetics

29 September 2017

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Review and hypothesis: Alzheimer disease and Down syndrome--chromosome 21 nondisjunction may underlie both disorders

29 September 2017

1 reference

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The chromosome complement of human gametes

29 September 2017

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On the Penrose hypothesis on fingerprint patterns

29 September 2017

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Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

29 September 2017

1 reference

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Palmar flexion creases in childhood neoplasia

29 September 2017

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The genetics of Alzheimer's disease: associations with hematologic malignancy and Down's syndrome

29 September 2017

1 reference

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TMPRSS2-ERG gene fusion is not associated with outcome in patients treated by prostatectomy

29 September 2017

1 reference

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Prenatal origin of hyperdiploid acute lymphoblastic leukemia in identical twins.

2 June 2018

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Molecular mapping of Alzheimer-type dementia in Down's syndrome.

2 June 2018

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Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease.

2 June 2018

1 reference

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Alzheimer's disease: Genetic aspects and associated clinical disorders

2 June 2018

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Survival of children with mosaic Down syndrome.

2 June 2018

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Both normal memory counts and decreased naive cells favor intrinsic defect over early senescence of Down syndrome T lymphocytes.

27 November 2018

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Recurrence risks for trisomies 13, 18, and 21

27 November 2018

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Susceptibility to aneuploidy in young mothers of Down syndrome children.

27 November 2018

1 reference

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Clonal evolution in chronic lymphocytic leukemia studied by interphase fluorescence in-situ hybridization.

27 November 2018

1 reference

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A systems biology approach to Down syndrome: identification of Notch/Wnt dysregulation in a model of stem cells aging.

27 November 2018

1 reference

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Chromosome instability is common in human cleavage-stage embryos.

27 November 2018

1 reference

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Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning

27 November 2018

1 reference

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The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.

27 November 2018

1 reference

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Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia.

27 November 2018

1 reference

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Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

27 November 2018

1 reference

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Commentary: Clustering in Down syndrome

27 November 2018

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Prenatal origin of childhood acute lymphoblastic leukemia, association with birth weight and hyperdiploidy

27 November 2018

1 reference

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Biochemical markers in persons with preclinical familial Alzheimer disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Initiating and cancer-propagating cells in TEL-AML1-associated childhood leukemia.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Trisomy represses Apc Min -mediated tumours in mouse models of Down’s syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Interphase chromosome-specific multicolor banding (ICS-MCB): a new tool for analysis of interphase chromosomes in their integrity.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Increased prevalence of Down's syndrome in individuals with type 1 diabetes in Denmark: A nationwide population-based study.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Non-disjunction of chromosome 21, alphoid DNA variation, and sociogenetic features of Down syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Cancer incidence of persons with down syndrome in Finland: A population-based study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Individual variation in the frequency of sperm aneuploidy in humans.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Mosaic Down's syndrome prevalence in a complete population study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Mosaicism in a mother with a mongol child.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Down syndrome: a study of chromosomal mosaicism.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Cytogenetic alterations in lymphocytes of Alzheimer's disease and Parkinson's disease patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Specificity of the fivefold increase in AD in mothers of adults with Down syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Follicle dynamics during ovarian ageing.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer disease patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

In utero rearrangements in the trithorax-related oncogene in infant leukaemias.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018721

Dermatoglyphics and acute lymphocytic leukemia in children

27 November 2018

1 reference

12 December 2020

Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies

1 reference

12 December 2020

GATA1 Mutation Analysis Demonstrates Two Distinct Primary Leukemias in a Child With Down Syndrome; Implications for Leukemogenesis

1 reference

12 December 2020

Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction

1 reference

12 December 2020

The distal triradius t on the hands of parents and sibs of mongol imbeciles

1 reference

12 December 2020

21-trisomy/normal mosaicism in an intelligent child with some mongoloid characters

1 reference

12 December 2020

Mongolism with mosaic chromosome pattern

1 reference

12 December 2020

Telomeres on chromosome 21 and aging in lymphocytes and gingival fibroblasts from individuals with Down syndrome

1 reference

12 December 2020

The utilization of interphase cytogenetic analysis for the detection of mosaicism

1 reference

12 December 2020

Second pregnancy of trisomy 21 in a mother with mosaicism

1 reference

12 December 2020

Childhood cancer near German nuclear power stations

1 reference

12 December 2020

The somatic chromosomes in mongolism

1 reference

12 December 2020

Intra-individual and inter-individual variations in sperm aneuploidy frequencies in normal men

1 reference

12 December 2020

Susceptibility to chromosome malsegregation in lymphocytes of women who had a Down syndrome child in young age

1 reference

12 December 2020

Trisomy 21 in neoplastic cells

1 reference

12 December 2020

Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions

1 reference

12 December 2020

Role of mitotic control in spermatogenesis

1 reference

12 December 2020

[Trisomy 21: fifty years between medicine and science]

1 reference

12 December 2020

Spontaneous and induced chromosome damage in somatic cells of sporadic and familial Alzheimer's disease patients

1 reference

12 December 2020

Increased nondisjunction of chromosome 21 with age in human peripheral lymphocytes

1 reference

12 December 2020

Paradox of a tumour repressor

1 reference

12 December 2020

Space-time analysis of Down syndrome: results consistent with transient pre-disposing contagious agent

1 reference

12 December 2020

10.2174/138920210793176056

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21358985%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21358985%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference