A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents (Q57161501)

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5 February 2020

title

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents (English)

1 reference

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5 February 2020

main subject

nail-patella syndrome

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2

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5 February 2020

Francesca Mari

17

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5 February 2020

Giacomo Colussi

18

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5 February 2020

Stilianos Antonarakis

20

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5 February 2020

Marco Seri

21

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5 February 2020

19

Krzysztof Szczaluba

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5 February 2020

23

Roberto Ravazzolo

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5 February 2020

author name string

Monica Marini

1

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5 February 2020

Stefania Gimelli

3

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5 February 2020

Marco Di Duca

4

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5 February 2020

Maria T Divizia

5

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5 February 2020

Anwar Baban

6

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Harald Gaspar

7

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Isabella Mammi

8

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Roberto Cerone

10

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Francesco Emma

11

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5 February 2020

Maria F Bedeschi

12

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5 February 2020

Romano Tenconi

13

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Alberto Sensi

14

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Andrea Salmaggi

15

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Mario Bengala

16

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Margherita Lerone

22

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Livia Garavelli

9

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language of work or name

English

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publication date

1 July 2010

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5 February 2020

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5 February 2020

volume

12

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5 February 2020

issue

7

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5 February 2020

page(s)

431-439

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181e21afa

5 February 2020

exact match

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cites work

Nail patella syndrome revisited: 50 years after linkage.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Nail-patella syndrome. Overview on clinical and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E21AFA