(Q35566202)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

Bannayan-Riley-Ruvalcaba syndrome

20 December 2019

main subject

1 reference

11

1 reference

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20 December 2019

author name string

Y M C Hendriks

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

J T C M Verhallen

2

1 reference

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20 December 2019

J J van der Smagt

3

1 reference

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20 December 2019

S G Kant

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Y Hilhorst

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

L Hoefsloot

6

1 reference

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20 December 2019

K B-M Hansson

7

1 reference

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20 December 2019

P J C van der Straaten

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

H Boutkan

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

M H Breuning

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

A H J T Bröcker-Vriends

12

1 reference

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20 December 2019

publication date

1 January 2003

1 reference

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20 December 2019

1 reference

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20 December 2019

volume

2

1 reference

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20 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14574156%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

79-85

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1025713815924

20 December 2019

exact match

0 references

cites work

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

1 reference

12 December 2020

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

1 reference

12 December 2020

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene

1 reference

12 December 2020

Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Discussion: genetics of multiple primary tumors: a clinical etiologic approach illustrated by three patients

1 reference

12 December 2020

The Cowden syndrome: a clinical and genetic study in 21 patients

1 reference

12 December 2020

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

1 reference

12 December 2020

Mutations of the human PTEN gene

1 reference

12 December 2020

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

1 reference

12 December 2020

Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature

1 reference

12 December 2020

The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.

1 reference

12 December 2020

Multiple hamartoma syndrome (Cowden's disease) associated with renal cell carcinoma and primary neuroendocrine carcinoma of the skin (Merkel cell carcinoma)

1 reference

12 December 2020

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

1 reference

12 December 2020

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

1 reference

12 December 2020

Macrocephaly with hamartomas: Bannayan-Zonana syndrome

1 reference

12 December 2020

Macrocephaly with multiple lipomas and hemangiomas

1 reference

12 December 2020

Breast cancer in Cowden's disease: a case report with review of the literature

1 reference

12 December 2020

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

1 reference

12 December 2020

Male breast cancer in Cowden syndrome patients with germline PTEN mutations

1 reference

12 December 2020

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

1 reference

12 December 2020

1 reference

12 December 2020

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN

1 reference

12 December 2020

Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease

1 reference

12 December 2020

Cowden disease. Report of two additional cases

1 reference

12 December 2020

Gastrointestinal manifestations of Cowden's disease. Report of four cases

1 reference

12 December 2020

Will the real Cowden syndrome please stand up: revised diagnostic criteria

1 reference

12 December 2020

Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease).

1 reference

12 December 2020

Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.

1 reference

12 December 2020

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

1 reference

12 December 2020

Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?

1 reference

12 December 2020

1 reference

12 December 2020

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

1 reference

12 December 2020

Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome

1 reference

12 December 2020

Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection

1 reference

12 December 2020

Hereditary gastrointestinal polyposis syndromes

1 reference

12 December 2020

The hamartomatous polyposis syndromes: clinical and radiologic features

1 reference

12 December 2020

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity

1 reference

12 December 2020

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome

1 reference

12 December 2020

Germline mutations in PTEN are present in Bannayan-Zonana syndrome

1 reference

12 December 2020