(Q35603620)

9 August 2017

0 references

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome (English)

1 reference

9 August 2017

2

Chong Ae Kim

1 reference

9 August 2017

Mary J Gray

1

1 reference

9 August 2017

Debora Romeo Bertola

3

1 reference

9 August 2017

Paula Ricci Arantes

4

1 reference

9 August 2017

Helen Stewart

5

1 reference

9 August 2017

Michael A Simpson

6

1 reference

9 August 2017

Melita D Irving

7

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9 August 2017

Stephen P Robertson

8

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9 August 2017

publication date

29 June 2011

1 reference

European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

20

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9 August 2017

issue

1

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9 August 2017

page(s)

122-124

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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

9 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=3234501

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Hajdu--Cheney syndrome: evolution of phenotype and clinical problems

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Mutation in ankyrin repeats of the mouse Notch2 gene induces early embryonic lethality.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Cystic kidney disease in Hajdu-Cheney syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Nosology and classification of genetic skeletal disorders: 2010 revision.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234501

Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21712856

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.125

1 reference

Dimensions Publication ID

9 August 2017

0 references

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9 August 2017

1 reference