(Q52656481)

5 May 2018

title

Evidence of digenic inheritance in Alport syndrome. (English)

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5 May 2018

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Helen Storey

3

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Laurence Heidet

Laurence Heidet

2

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Francesca Ariani

Francesca Ariani

15

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Alessandra Renieri

Alessandra Renieri

20

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Francesca Mari

Francesca Mari

13

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Corinne Antignac

Corinne Antignac

18

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author name string

Maria Antonietta Mencarelli

1

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5 May 2018

Michel van Geel

4

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5 May 2018

Bertrand Knebelmann

5

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5 May 2018

Chiara Fallerini

6

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5 May 2018

Nunzia Miglietti

7

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5 May 2018

Maria Fatima Antonucci

8

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5 May 2018

Francesco Cetta

9

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5 May 2018

John A Sayer

10

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5 May 2018

Arthur van den Wijngaard

11

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5 May 2018

Shu Yau

12

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5 May 2018

Mirella Bruttini

14

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Karin Dahan

16

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5 May 2018

Bert Smeets

17

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5 May 2018

Frances Flinter

19

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5 May 2018

language of work or name

English

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publication date

9 January 2015

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5 May 2018

Journal of Medical Genetics

published in

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5 May 2018

volume

52

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5 May 2018

issue

3

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5 May 2018

page(s)

163-174

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5 May 2018

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

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Genetic heterogeneity of Alport syndrome.

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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

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Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

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Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

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Modification of human hearing loss by plasma-membrane calcium pump PMCA2

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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

21 January 2018

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

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Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

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Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy

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The Alport syndrome COL4A5 variant database

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Clinical utility gene card for: Alport syndrome

21 January 2018

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Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

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Basement membranes: structure, assembly and role in tumour angiogenesis

21 January 2018

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Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

21 January 2018

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Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

21 January 2018

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Salt wasting and deafness resulting from mutations in two chloride channels

21 January 2018

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Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

21 January 2018

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Natural history of Ullrich congenital muscular dystrophy.

21 January 2018

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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

21 January 2018

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Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

21 January 2018

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Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

21 January 2018

1 reference

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10.1136/JMEDGENET-2014-102822

21 January 2018

Identifiers

DOI

1 reference

5 May 2018

1 reference

5 May 2018