(Q50631353)

16 March 2018

title

Copy-number variation associated with congenital anomalies of the kidney and urinary tract. (English)

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16 March 2018

author

John F. Bertram

9

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16 March 2018

author name string

Georgina Caruana

1

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16 March 2018

Milagros N Wong

2

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16 March 2018

Amanda Walker

3

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16 March 2018

Yves Heloury

4

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16 March 2018

Nathalie Webb

5

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16 March 2018

Lilian Johnstone

6

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16 March 2018

Paul A James

7

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16 March 2018

Trent Burgess

8

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16 March 2018

publication date

1 October 2014

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16 March 2018

published in

Pediatric Nephrology

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16 March 2018

volume

30

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16 March 2018

issue

3

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16 March 2018

page(s)

487-495

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16 March 2018

https://scigraph.springernature.com/pub.10.1007/s00467-014-2962-9

exact match

0 references

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

21 January 2018

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12 December 2020

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

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Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

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Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability

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12 December 2020

10.1007/S00467-014-2962-9

Identifiers

DOI

1 reference

16 March 2018

1 reference

16 March 2018