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Overgrowth Syndromes
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PubMed
review article
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Europe PubMed Central
title
Overgrowth Syndromes
(English)
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PubMed
author name string
Edmondson AC
series ordinal
1
1 reference
stated in
PubMed
Kalish JM
series ordinal
2
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stated in
PubMed
publication date
September 2015
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stated in
PubMed
published in
Journal of Pediatric Genetics
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stated in
PubMed
volume
4
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stated in
PubMed
issue
3
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PubMed
page(s)
136-43
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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
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