(Q51787579)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16955230%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome (English)

1 reference

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29 December 2019

9

1 reference

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29 December 2019

Gabriella Sole

11

1 reference

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29 December 2019

author name string

Milena Cau

1

1 reference

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29 December 2019

Maria Addis

2

1 reference

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29 December 2019

Rita Congiu

3

1 reference

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29 December 2019

Cristiana Meloni

4

1 reference

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29 December 2019

Antonio Cao

5

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29 December 2019

Simona Santaniello

6

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29 December 2019

Mario Loi

7

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29 December 2019

Francesco Emma

8

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29 December 2019

Roberto Ciccone

10

1 reference

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29 December 2019

Maria Antonietta Melis

12

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29 December 2019

publication date

6 September 2006

1 reference

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Journal of Human Genetics

29 December 2019

published in

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29 December 2019

volume

51

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29 December 2019

issue

11

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29 December 2019

page(s)

1030-1036

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0049-6

29 December 2019

exact match

0 references

cites work

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1 reference

12 December 2020

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint

1 reference

12 December 2020

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

1 reference

12 December 2020

[A girl with Lowe's syndrome.]

1 reference

12 December 2020

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

1 reference

12 December 2020

Oculo-cerebro-renal syndrome. Report of a case in a baby girl

1 reference

12 December 2020

Glycosaminoglycan synthesis by cultured skin fibroblasts from a patient with Lowe's syndrome

1 reference

12 December 2020

Random X-chromosome inactivation: skewing lessons for mice and men.

1 reference

12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

12 December 2020

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

1 reference

12 December 2020

X chromosome choice occurs independently of asynchronous replication timing

1 reference

12 December 2020

Delving into the diversity of facultative heterochromatin: the epigenetics of the inactive X chromosome

1 reference

12 December 2020

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28

1 reference

12 December 2020

Renal function and morphology in a girl with oculocerebrorenal syndrome

1 reference

12 December 2020

Heritability of X chromosome--inactivation phenotype in a large family

1 reference

12 December 2020

OCRL mutation analysis in Italian patients with Lowe syndrome

1 reference

12 December 2020

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

1 reference

12 December 2020

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

1 reference

12 December 2020

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

1 reference

12 December 2020

Oculocerebrorenal syndrome in a female child

1 reference

12 December 2020

10.1007/S10038-006-0049-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16955230%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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