Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (Q71639110)

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scientific article published on 01 January 1982

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English	Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation	scientific article published on 01 January 1982

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scholarly article

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Europe PubMed Central

PubMed publication ID

6818132

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

title

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (English)

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stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

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20 October 2019

main subject

agenesis of the corpus callosum

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author

Orsetta Zuffardi

series ordinal

2

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Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

author name string

H H Ropers

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

E Bianchi

series ordinal

3

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stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

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20 October 2019

L Tiepolo

series ordinal

4

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stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

publication date

1 January 1982

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Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

published in

Human Genetics

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stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

volume

61

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Europe PubMed Central

PubMed publication ID

6818132

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

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20 October 2019

issue

4

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Europe PubMed Central

PubMed publication ID

6818132

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

page(s)

364-368

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Europe PubMed Central

PubMed publication ID

6818132

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

cites work

Pneumographic demonstration of subependymal heterotopic cortical gray matter in children.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Letter: Half chromatid mutations may explain incontinentia pigmenti in males

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Preferential expression of the maternally derived X chromosome in the mouse yolk sac

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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inferred from PubMed ID database lookup

Regional assignment of the gene locus for steroid sulfatase

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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inferred from PubMed ID database lookup

X-chromosome inactivation and selection in somatic cells

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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The Aicardi Syndrome

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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[Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Aicardi syndrome in a male infant

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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A simple procedure for obtaining autoradiographs of G-banded chromosomes

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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inferred from PubMed ID database lookup

Preferential X inactivation in human placenta membranes: is the paternal X inactive in early embryonic development of female mammals?

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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X-autosome translocations: a review

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid sulfatase activity in cultured fibroblasts of XX males

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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inferred from PubMed ID database lookup

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

retrieved

12 December 2020

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Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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inferred from PubMed ID database lookup

Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/6818132

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12 December 2020

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Identifiers

DOI

10.1007/BF00276602

1 reference

stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

PubMed publication ID

6818132

1 reference

stated in

Europe PubMed Central

PubMed publication ID

6818132

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6818132%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 October 2019

 

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