Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model (Q22337253)

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English	Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model	scientific article

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23 January 2020

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model (English)

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23 January 2020

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23 January 2020

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23 January 2020

Thomas W Frazier

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23 January 2020

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23 January 2020

Lisa A Rybicki

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23 February 2011

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23 January 2020

European Journal of Human Genetics

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23 January 2020

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23 January 2020

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

19 March 2017

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

19 March 2017

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

19 March 2017

Cancer phenomics: RET and PTEN as illustrative models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

19 March 2017

Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

19 March 2017

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

ATP modulates PTEN subcellular localization in multiple cancer cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

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27 September 2017

Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis

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27 September 2017

Growth in North American white children with neurofibromatosis 1 (NF1)

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27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

27 September 2017

Standards for selected anthropometric measurements in males with the fragile X syndrome

1 reference

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27 September 2017

Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome

1 reference

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30 May 2018

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I.

1 reference

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30 May 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.20

21 January 2018

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.20

21 January 2018

Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.20

21 January 2018

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.20

21 January 2018

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137495

29 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21343951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lhermitte-duclos disease and cowden disease: A single phakomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21343951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21343951

12 December 2020

based on heuristic

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Identifiers

10.1038/EJHG.2011.20

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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23 January 2020

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21343951%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21343951%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

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Springer Nature article ID

10.1038/ejhg.2011.20

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