Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q27691998)
Watch
English
Overgrowth Syndromes
scientific article
In more languages
default values for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
PubMed
review article
1 reference
stated in
Europe PubMed Central
title
Overgrowth Syndromes
(English)
1 reference
stated in
PubMed
author name string
Edmondson AC
series ordinal
1
1 reference
stated in
PubMed
Kalish JM
series ordinal
2
1 reference
stated in
PubMed
publication date
September 2015
1 reference
stated in
PubMed
published in
Journal of Pediatric Genetics
1 reference
stated in
PubMed
volume
4
1 reference
stated in
PubMed
issue
3
1 reference
stated in
PubMed
page(s)
136-43
1 reference
stated in
PubMed
cites work
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
A single subunit, Dis3, is essentially responsible for yeast exosome core activity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
Proteus syndrome review: molecular, clinical, and pathologic features
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
20 March 2017
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
7 April 2017
Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
24 May 2017
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Molecular findings in Beckwith-Wiedemann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
The NSD1 and EZH2 overgrowth genes, similarities and differences
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Lifetime cancer risks in individuals with germline PTEN mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Aberrations of EZH2 in cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
McCune-Albright syndrome and disorders due to activating mutations of GNAS1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Identification of eight novel NSD1 mutations in Sotos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Haploinsufficiency of NSD1 causes Sotos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Cervical spine anomalies and tumors in Weaver syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Overgrowth syndromes: an update.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Perlman syndrome: four additional cases and review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
The neuroimaging findings in Sotos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
29 September 2017
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
2 June 2018
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
2 June 2018
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
When overgrowth bumps into cancer: the PTEN-opathies.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
MPPH syndrome: two new cases.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Perlman syndrome: report, prenatal findings and review.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4918719
retrieved
27 November 2018
Bannayan-Riley-Ruvalcaba syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Neuroimaging and echocardiographic findings in Sotos syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Beckwith-Wiedemann syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Weaver syndrome with neuroblastoma and cardiovascular anomalies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The Perlman familial nephroblastomatosis syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
When Overgrowth Bumps Into Cancer: The PTEN-Opathies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27617124
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1055/S-0035-1564440
0 references
PMC publication ID
4918719
1 reference
stated in
PubMed
PubMed publication ID
27617124
1 reference
stated in
PubMed
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit