(Q36488731)

14 August 2017

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title

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

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14 August 2017

Eric Engel

1

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14 August 2017

publication date

17 May 2006

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European Journal of Human Genetics

14 August 2017

published in

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14 August 2017

volume

14

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14 August 2017

issue

11

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14 August 2017

page(s)

1158-1169

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Spontaneous abortion and confined chromosomal mosaicism

14 August 2017

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UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13

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Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.

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Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

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Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

21 January 2018

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Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

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Maternal UPD 20 in a hyperactive child with severe growth retardation

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Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

21 January 2018

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Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

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Rare etiology of autosomal recessive disease in a child with noncarrier parents

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Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child

21 January 2018

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Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

21 January 2018

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Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

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Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

21 January 2018

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Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

21 January 2018

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Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

21 January 2018

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Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

21 January 2018

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Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

21 January 2018

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Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia

21 January 2018

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Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

21 January 2018

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Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

21 January 2018

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Uniparental paternal disomy in a genetic cancer-predisposing syndrome

21 January 2018

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

21 January 2018

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Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease

21 January 2018

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Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities

21 January 2018

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A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

21 January 2018

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Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter

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Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

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Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

21 January 2018

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Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

21 January 2018

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Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera

21 January 2018

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Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

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The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2.

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21 January 2018

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Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

21 January 2018

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Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

21 January 2018

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A new genetic concept: uniparental disomy and its potential effect, isodisomy

21 January 2018

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7 January 2021

A cytogenetic study of spontaneous abortions in Hawaii

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7 January 2021

Complementation studies with mouse translocations

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms

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7 January 2021

Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation

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7 January 2021

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

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7 January 2021

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Uniparental maternal disomy 6 in a renal transplant patient

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

First confirmed case with paternal uniparental disomy of chromosome 16

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

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7 January 2021

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201619

7 January 2021

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201619

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14 August 2017

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