(Q71788829)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923931%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923931%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

21 October 2019

main subject

1 reference

1 reference

Walter CA

1

1 reference

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21 October 2019

Shaffer LG

2

1 reference

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21 October 2019

Kaye CI

3

1 reference

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21 October 2019

Huff RW

4

1 reference

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21 October 2019

Ghidoni PD

5

1 reference

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21 October 2019

McCaskill C

6

1 reference

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21 October 2019

McFarland MB

7

1 reference

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21 October 2019

Moore CM

8

1 reference

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21 October 2019

publication date

1 November 1996

1 reference

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American Journal of Medical Genetics Part A

21 October 2019

published in

1 reference

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21 October 2019

volume

65

1 reference

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21 October 2019

issue

4

1 reference

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21 October 2019

page(s)

259-265

1 reference

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Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically

21 October 2019

cites work

1 reference

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How do human isochromosomes arise?

21 January 2018

1 reference

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

21 January 2018

1 reference

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Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR

21 January 2018

1 reference

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Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

21 January 2018

1 reference

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A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

21 January 2018

1 reference

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Composite structure of the human thyrotropin receptor gene

21 January 2018

1 reference

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Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

21 January 2018

1 reference

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Distinct phenotype in maternal uniparental disomy of chromosome 14.

21 January 2018

1 reference

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Cloning of the gene encoding the delta subunit of the human T-cell receptor reveals its physical organization within the alpha-subunit locus and its involvement in chromosome translocations in T-cell malignancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

Isolation of a human placenta cDNA coding for a protein related to the vascular permeability factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

The natural history of hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

21 January 2018

1 reference

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

21 January 2018

1 reference

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Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

21 January 2018

1 reference

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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations

21 January 2018

1 reference

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Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

21 January 2018

1 reference

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Maternal uniparental disomy of chromosome 13 in a phenotypically normal child

21 January 2018

1 reference

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A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

21 January 2018

1 reference

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Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome

21 January 2018

1 reference

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Sequence and organization of the human T cell delta chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

Maternal uniparental disomy for chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961111%2965%3A4%3C259%3A%3AAID-AJMG2%3E3.0.CO%3B2-K

10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K

21 January 2018

Identifiers

DOI

0 references

1 reference