Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. (Q34811053)

4 August 2017

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title

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

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4 August 2017

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Dieter Kotzot

1

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4 August 2017

language of work or name

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1 September 2002

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American Journal of Medical Genetics Part A

4 August 2017

published in

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4 August 2017

volume

111

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4 August 2017

issue

4

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4 August 2017

page(s)

366-375

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

4 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.10569

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Inflated false-positive rates in Hardy-Weinberg and linkage-equilibrium tests are due to sampling on the basis of rare familial phenotypes in finite populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Pharmacogenetics of cancer therapy: getting personal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Confined placental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Uniparental disomy in congenital disorders: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Maternal uniparental disomy 7 in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

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%2FAJMG.10569

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

No evidence for uniparental disomy as a common cause of Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10569

21 January 2018

Identifiers

DOI

10.1002/AJMG.10569

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4 August 2017

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