(Q37886251)

24 August 2017

1 reference

title

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer (English)

1 reference

24 August 2017

1 reference

Pablo Lapunzina

1

1 reference

PubMed ID

21651501

24 August 2017

David Monk

series ordinal

2

1 reference

24 August 2017

1 July 2011

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24 August 2017

15

1 reference

based on heuristic

inferred from page(s)

published in

Biology of the Cell

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24 August 2017

103

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24 August 2017

7

1 reference

24 August 2017

303-317

1 reference

Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1

24 August 2017

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Uniparental disomy revisited: the first twelve years

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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/10.1042%2FBC20110013

Genome-wide DNA copy number analysis in pancreatic cancer using high-density single nucleotide polymorphism arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Confined placental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

The human retinoblastoma gene is imprinted

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Cytogenetic contribution to uniparental disomy (UPD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Molecular karyotyping of human hepatocellular carcinoma using single-nucleotide polymorphism arrays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Unexpected fertility and paternal UPD 22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal uniparental disomy 7 in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Genomic analysis reveals few genetic alterations in pediatric acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Involvement of homologous recombination in carcinogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Mechanisms underlying losses of heterozygosity in human colorectal cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10K single nucleotide polymorphism mapping array

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Acquired copy number alterations in adult acute myeloid leukemia genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

Single nucleotide polymorphism array analysis of chromosomal instability patterns discriminates rectal adenomas from carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBC20110013

21 January 2018

Identifiers

DOI

10.1042/BC20110013

1 reference

24 August 2017

1 reference

PubMed ID

21651501