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   Articles with "overgrowth" as a keyword



Autism is a prenatal disorder: Evidence from late gestation brain overgrowth

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recommendations! Published in 2018 at "Autism Research"

DOI: 10.1002/aur.2036

Abstract: This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic… read more here.

Keywords: autism; disorder; overgrowth; brain ... See more keywords

Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.536

Abstract: Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber syndrome, and PIK3CA‐related overgrowth spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in… read more here.

Keywords: somatic overgrowth; overgrowth conditions; diagnosis somatic; conditions single ... See more keywords

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.845

Abstract: Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients… read more here.

Keywords: variant pik3ca; pathogenic variant; leading symmetrical; pik3ca leading ... See more keywords

Genetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders

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recommendations! Published in 2024 at "Skeletal Radiology"

DOI: 10.1007/s00256-024-04772-7

Abstract: Somatic overgrowth disorders comprise a wide range of rare conditions that present with focal enlargement of one or more tissue types. The PI3K-AKT-mTOR pathway is a signalling pathway that induces angiogenesis and cell proliferation, and… read more here.

Keywords: overgrowth; somatic overgrowth; akt mtor; overgrowth disorders ... See more keywords

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

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recommendations! Published in 2017 at "Human Genetics"

DOI: 10.1007/s00439-017-1832-5

Abstract: Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4–11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2… read more here.

Keywords: microdeletion; deletion; nf1 patient; gene ... See more keywords

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

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recommendations! Published in 2017 at "Archives of oral biology"

DOI: 10.1016/j.archoralbio.2017.04.002

Abstract: OBJECTIVE Gingival overgrowth is a side effect associated with some distinct classes of drugs, such as anticonvulsants, immunosuppressants, and calcium channel blockers. One of the main drugs associated with gingival overgrowth is the antiepileptic phenytoin,… read more here.

Keywords: sos1 gene; gingival overgrowth; phenytoin; overgrowth ... See more keywords
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Effect of secondary arm orientation on unusual overgrowth at converging grain boundary during directional solidification in 3D

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recommendations! Published in 2020 at "Computational Materials Science"

DOI: 10.1016/j.commatsci.2020.109531

Abstract: Abstract The competitive growth of two converging grains with multiple dendrite rows during directional solidification in three dimensions (3D) was investigated through phase-field simulations. We studied the effect of secondary arm orientation on the overgrowth… read more here.

Keywords: arm orientation; secondary arm; unusual overgrowth; overgrowth ... See more keywords

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

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recommendations! Published in 2018 at "Nature"

DOI: 10.1038/s41586-018-0217-9

Abstract: CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related… read more here.

Keywords: cloves syndrome; pros cloves; related overgrowth; pik3ca related ... See more keywords

Counteracting wetland overgrowth increases breeding and staging bird abundances

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recommendations! Published in 2017 at "Scientific Reports"

DOI: 10.1038/srep41391

Abstract: Human actions have led to loss and degradation of wetlands, impairing their suitability as habitat especially for waterbirds. Such negative effects may be mitigated through habitat management. To date scientific evidence regarding the impacts of… read more here.

Keywords: bird abundances; habitat management; conservation; management ... See more keywords

PA04 Germline activating variants in PIK3CA result in a diffuse overgrowth phenotype characterized by macrocephaly, cardiovascular and renal anomalies: recommendations for screening and monitoring

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recommendations! Published in 2024 at "British Journal of Dermatology"

DOI: 10.1093/bjd/ljae090.259

Abstract: Somatic activating mutations in PIK3CA cause a wide spectrum of clinical phenotypes characterized by mosaic pattern overgrowth of tissues. These are grouped under the umbrella term ‘PIK3CA-related overgrowth syndrome’ (PROS). Mosaic PROS has a reported… read more here.

Keywords: overgrowth; mosaic pros; developmental delay; monitoring ... See more keywords

Vascular malformations syndromes: an update.

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recommendations! Published in 2019 at "Current Opinion in Pediatrics"

DOI: 10.1097/mop.0000000000000812

Abstract: PURPOSE OF REVIEW To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification.… read more here.

Keywords: vascular malformations; overgrowth; syndromes update; malformations syndromes ... See more keywords