(Q33680557)

28 July 2017

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome (English)

1 reference

28 July 2017

1 reference

van Asperen CJ

1

1 reference

28 July 2017

Overweg-Plandsoen WC

2

1 reference

28 July 2017

Cnossen MH

3

1 reference

28 July 2017

van Tijn DA

4

1 reference

28 July 2017

Hennekam RC

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

1 reference

28 July 2017

4

1 reference

28 July 2017

323-327

1 reference

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Position effects and genetic disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Sotos syndrome: a study of the diagnostic criteria and natural history

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Neurofibromatosis and hypertelorism.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Weaver-Smith syndrome. A case study with long-term follow-up

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Further delineation of Weaver syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Identification and characterization of the neurofibromatosis type 1 protein product

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Deletion of the entire NF1 gene causing distinct manifestations in a family.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Siblings with Weaver syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051283

Extending the overlap of three congenital overgrowth syndromes

30 October 2018

1 reference

12 December 2020

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

1 reference

12 December 2020

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

1 reference

12 December 2020

Novel findings in a patient with Weaver or a Weaver-like syndrome

1 reference

12 December 2020

[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)]

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

A distinctive facial appearance in neurofibromatosis von Recklinghausen

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

A new autosomal recessive disorder resembling Weaver syndrome

1 reference

12 December 2020

Twins and their mildly affected mother with Weaver syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.4.323

1 reference

28 July 2017

1 reference

28 July 2017

1 reference