(Q71639110)

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

1 reference

Europe PubMed Central

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

20 October 2019

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

1 reference

Europe PubMed Central

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

20 October 2019

agenesis of the corpus callosum

1 reference

based on heuristic

inferred from title

Orsetta Zuffardi

2

1 reference

Europe PubMed Central

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20 October 2019

author name string

H H Ropers

1

1 reference

Europe PubMed Central

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20 October 2019

E Bianchi

3

1 reference

Europe PubMed Central

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20 October 2019

L Tiepolo

4

1 reference

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20 October 2019

publication date

1 January 1982

1 reference

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20 October 2019

1 reference

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20 October 2019

61

1 reference

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20 October 2019

364-368

1 reference

Europe PubMed Central

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20 October 2019

4

1 reference

Europe PubMed Central

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20 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00276602

0 references

Pneumographic demonstration of subependymal heterotopic cortical gray matter in children.

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Half chromatid mutations may explain incontinentia pigmenti in males

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional assignment of the gene locus for steroid sulfatase

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-chromosome inactivation and selection in somatic cells

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Aicardi Syndrome

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aicardi syndrome in a male infant

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple procedure for obtaining autoradiographs of G-banded chromosomes

1 reference

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

12 December 2020

based on heuristic

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?

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-autosome translocations: a review

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid sulfatase activity in cultured fibroblasts of XX males

1 reference

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

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00276602

1 reference

Europe PubMed Central

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

20 October 2019

1 reference

Europe PubMed Central

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

20 October 2019

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