Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. (Q45784882)

16 December 2017

title

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. (English)

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16 December 2017

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Carlo Manno

6

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Ilaria Meloni

object named as

Ilaria Meloni

4

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Alessandra Renieri

object named as

Alessandra Renieri

10

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Francesca Mari

object named as

Francesca Mari

8

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author name string

Vera Uliana

1

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16 December 2017

Elena Marcocci

2

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16 December 2017

Mafalda Mucciolo

3

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16 December 2017

Claudia Izzi

5

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16 December 2017

Mirella Bruttini

7

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16 December 2017

Francesco Scolari

9

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16 December 2017

Leonardo Salviati

11

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16 December 2017

publication date

14 December 2010

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16 December 2017

published in

Pediatric Nephrology

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16 December 2017

volume

26

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16 December 2017

page(s)

717-724

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16 December 2017

issue

5

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16 December 2017

https://scigraph.springernature.com/pub.10.1007/s00467-010-1693-9

exact match

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

2q24-q31 deletion: report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Esophageal leiomyomatosis in children: report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Chromatin insulators: regulatory mechanisms and epigenetic inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-010-1693-9

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

21 January 2018

1 reference

12 December 2020

1 reference

12 December 2020

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

12 December 2020

Alport syndrome with diffuse leiomyomatosis

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12 December 2020

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

1 reference

12 December 2020

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

1 reference

12 December 2020

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

12 December 2020

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus

1 reference

12 December 2020

Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

1 reference

12 December 2020

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

1 reference

12 December 2020

10.1007/S00467-010-1693-9

Identifiers

DOI

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16 December 2017

Dimensions Publication ID

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16 December 2017