(Q28276610)

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

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

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Haploinsufficiency

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nail-patella syndrome

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Lies H. Hoefsloot

4

object named as

Lies H Hoefsloot

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author name string

Ernie Mhf Bongers

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Ilse J de Wijs

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Carlo Marcelis

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Nine Vam Knoers

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publication date

October 2008

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European Journal of Human Genetics

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16

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10

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1240-4

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

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

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

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

Mutation analysis of LMX1B gene in nail-patella syndrome patients

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

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

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

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

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

LMX1B transactivation and expression in nail-patella syndrome

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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https://api.crossref.org/works/10.1038/EJHG.2008.83

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

Nail-patella syndrome. Overview on clinical and molecular findings

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https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.

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https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

21 January 2018

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

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Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome

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https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

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Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy

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https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

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https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

inferred from DOI database lookup

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional characterization of LMX1B mutations associated with nail-patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

inferred from DOI database lookup

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.83

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/EJHG.2008.83

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