(Q52537104)

2 May 2018

title

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. (English)

1 reference

2 May 2018

main subject

patient

0 references

nail-patella syndrome

1 reference

Clough MV

1

1 reference

2 May 2018

Hamlington JD

series ordinal

2

1 reference

2 May 2018

McIntosh I

series ordinal

3

1 reference

2 May 2018

publication date

1 January 1999

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2 May 2018

published in

Human Mutation

1 reference

2 May 2018

volume

14

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2 May 2018

issue

6

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2 May 2018

page(s)

459-465

1 reference

2 May 2018

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

cites work

1 reference

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Multiple calvarial defects in lmx1b mutant mice.

21 January 2018

1 reference

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21 January 2018

DeLIMiting development

1 reference

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

21 January 2018

1 reference

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Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

21 January 2018

1 reference

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Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9

21 January 2018

1 reference

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Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity

21 January 2018

1 reference

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Cosegregation of open-angle glaucoma and the nail-patella syndrome

21 January 2018

1 reference

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

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Nail-patella syndrome: evidence for modification by alleles at the main locus.

21 January 2018

1 reference

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Genetical linkage between the ABO and nail-patella loci

21 January 2018

1 reference

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Induction of the LIM homeobox gene Lmx1 by WNT6a establishes dorsoventral pattern in the vertebrate limb

21 January 2018

1 reference

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

21 January 2018

1 reference

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Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

21 January 2018

1 reference

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Prenatal diagnosis of nail-patella syndrome

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

2 May 2018

PubMed ID

10571942

1 reference

2 May 2018