Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation (Q35889650)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

F A Eggerding

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S A Schonberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F F Chehab

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M E Norton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

V A Cox

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

C J Epstein

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 August 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

253-265

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental disomy for chromosome 16 in humans.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Maternal uniparental disomy 22 has no impact on the phenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental disomy as a mechanism for human genetic disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A high-resolution, fluorescence-based, semiautomated method for DNA fingerprinting

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Pericentromeric structure of human X "isochromosomes": evidence for molecular heterogeneity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Dinucleotide repeat polymorphism at the D4S174 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Five polymorphic microsatellite VNTRs on the human X chromosome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Genomic imprinting: review and relevance to human diseases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Physical map of the centromeric region of human chromosome 7: relationship between two distinct alpha satellite arrays

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Evolution and distribution of (GT)n repetitive sequences in mammalian genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

DNA typing and genetic mapping with trimeric and tetrameric tandem repeats

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Microsatellites for linkage analysis of genetic traits

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Structure of DNA near long tandem arrays of alpha satellite DNA at the centromere of human chromosome 7.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

A new strategy useful for rapid identification of microsatellites from DNA libraries with large size inserts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Uniparental disomy: a novel mechanism for thalassemia major

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Construction of a GT polymorphism map of human 9q

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Dinucleotide repeat polymorphism at the D7S547 locus.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and pro alpha 2 (I) collagen (COL1A2)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

High Resolution of Human Chromosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Physical growth: National Center for Health Statistics percentiles

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918369

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

24 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions

1 reference

12 December 2020

Morphology alone does not make an isochromosome

1 reference

12 December 2020

A simple technique for demonstrating centromeric heterochromatin

1 reference

12 December 2020

Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2

1 reference

12 December 2020

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

1 reference

12 December 2020

Isochromosome (18q) in siblings

1 reference

12 December 2020

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

1 reference

12 December 2020

Molecular studies of the parental origin and nature of human X isochromosomes

1 reference

12 December 2020

The parental origin and mechanism of formation of three dicentric X chromosomes

1 reference

12 December 2020

Molecular evidence for true isochromosome 21q

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

12 December 2020

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

12 December 2020

A molecular genetic approach to the identification of isochromosomes of chromosome 21

1 reference

12 December 2020

Autosomal and X-chromosome imprinting

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7913578%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference