Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. (Q50438352)

14 March 2018

title

Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. (English)

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14 March 2018

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Kazumoto Iijima

1

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14 March 2018

Kandai Nozu

2

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14 March 2018

Koichi Kamei

3

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14 March 2018

Makiko Nakayama

4

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14 March 2018

Shuichi Ito

5

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14 March 2018

Kentaro Matsuoka

6

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Tsutomu Ogata

7

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Hiroshi Kaito

8

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Koichi Nakanishi

9

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14 March 2018

Masafumi Matsuo

10

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14 March 2018

publication date

13 April 2010

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14 March 2018

published in

Pediatric Nephrology

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14 March 2018

volume

25

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14 March 2018

issue

10

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14 March 2018

page(s)

2165-2170

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https://scigraph.springernature.com/pub.10.1007/s00467-010-1514-1

exact match

0 references

cites work

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

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Crossref

https://api.crossref.org/works/10.1007%2FS00467-010-1514-1

The critical region on the human Xq.

21 January 2018

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Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

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Pathologic characteristics of hereditary nephritis

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Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency

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Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)

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X-chromosome inactivation: molecular mechanisms and genetic consequences

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Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction

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Alport's syndrome. Emphasizing electron microscopic studies of the glomerulus

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X inactivation, female mosaicism, and sex differences in renal diseases

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An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

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Genetic, clinical, and morphologic heterogeneity in Alport's syndrome

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Genetics of classic Alport's syndrome

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Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

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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

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12 December 2020

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

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12 December 2020

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

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Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome.

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Epitope-defined monoclonal antibodies against type-IV collagen for diagnosis of Alport's syndrome

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X chromosome inactivation and the diagnosis of X linked disease in females

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

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10.1007/S00467-010-1514-1

Identifiers

DOI

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14 March 2018

PubMed ID

20386926

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14 March 2018