(Q35080542)

6 August 2017

1 reference

title

Nail patella syndrome: a review of the phenotype aided by developmental biology (English)

1 reference

6 August 2017

main subject

developmental biology

1 reference

inferred from title

nail-patella syndrome

1 reference

1 reference

E Sweeney

1

1 reference

6 August 2017

A Fryer

2

1 reference

6 August 2017

R Mountford

3

1 reference

6 August 2017

A Green

4

1 reference

6 August 2017

I McIntosh

5

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 March 2003

1 reference

Journal of Medical Genetics

6 August 2017

published in

1 reference

6 August 2017

volume

40

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6 August 2017

issue

3

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6 August 2017

page(s)

153-162

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Genetical linkage between the ABO and nail-patella loci

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

An epidemiological survey of constipation in canada: definitions, rates, demographics, and predictors of health care seeking

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Meier-Gorlin syndrome: report of eight additional cases and review.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

LMX1B transactivation and expression in nail-patella syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The incidence and lifetime prevalence of neurological disorders in a prospective community-based study in the UK.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The Caenorhabditis elegans lim-6 LIM homeobox gene regulates neurite outgrowth and function of particular GABAergic neurons

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Mutation analysis of LMX1B gene in nail-patella syndrome patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Novel regulatory interactions revealed by studies of murine limb pattern in Wnt-7a and En-1 mutants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Molecular models for vertebrate limb development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Fine mapping of the nail-patella syndrome locus at 9q34

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Brachymorphism-onychodysplasia-dysphalangism syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Inherited diseases of the glomerular basement membrane.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Linkage analysis of the nail-patella syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Triangular lunulae. A clue to nail-patella syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The horn: a pathognomonic feature of paediatric bone dysplasias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Nail patella syndrome: a review of 44 orthopaedic patients.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Familial aplasia or hypoplasia of the patella

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The "small patella" syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Epidemiological aspects of irritable bowel syndrome in Europe and North America.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Sensorineural hearing loss and nail patella syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Dorsal cell fate specified by chick Lmx1 during vertebrate limb development

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The nail-patella syndrome-pathogenesis of the kidney lesion

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

Nail-patella syndrome: an incidental finding from abdominal discomfort

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

The Interval between Pregnancies and the Risk of Preeclampsia

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735400

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

9 December 2018

1 reference

12 December 2020

The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome

1 reference

12 December 2020

Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection

1 reference

12 December 2020

Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds

1 reference

12 December 2020

Lester's line in hereditary osteo-onychoysplasia

1 reference

12 December 2020

Renal disease in nail-patella syndrome: Clinical and morphologic studies

1 reference

12 December 2020

Familial absence of the patella

1 reference

12 December 2020

Radiographic Diagnosis of Osteo-onychodysostosis in Infancy

1 reference

12 December 2020

Familial colon carcinoma in nail-patella syndrome

1 reference

12 December 2020

Glomerular basement membrane changes in hereditary glomerular diseases

1 reference

12 December 2020

Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)

1 reference

12 December 2020

[The coxopodopatellar syndrome]

1 reference

12 December 2020

Familial recurrent dislocation of patella with autosomal dominant mode of inheritance

1 reference

12 December 2020

Renal histopathology of the nail-patella syndrome in a two-year-old boy

1 reference

12 December 2020

[The small patella syndrome. A combination of knee and pelvic dysplasia]

1 reference

12 December 2020

1 reference

12 December 2020

Ultrasound prenatal diagnosis of the Nail-Patella syndrome

1 reference

12 December 2020

[Hereditary osteo-onycho-dysplasia (albuminurica). Review of the literature and classification of a family in this abnormality syndrome.]

1 reference

12 December 2020

Hereditary arthro-osteo-onychodysplasia associated with iliac horns

1 reference

12 December 2020

HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD)

1 reference

12 December 2020

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

1 reference

12 December 2020

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

1 reference

12 December 2020

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.3.153

1 reference

release_7komf5bmffch5ekw6a6uwgeem4

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7komf5bmffch5ekw6a6uwgeem4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1735400

1 reference

6 August 2017

1 reference