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1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35256403
2.
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Genes Chromosomes Cancer
; 61(11): 689-695, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35778969
3.
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Clin Genet
; 99(5): 719-723, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33506498
4.
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.
Clin Genet
; 100(5): 624-627, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34402524
5.
Functional evidence of mTORß splice variant involvement in the pathogenesis of congenital heart defects.
Clin Genet
; 99(3): 425-429, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33236357
6.
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
Am J Med Genet A
; 179(7): 1319-1324, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31058421
7.
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Genet Med
; 23(11): 2223-2224, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34234302
8.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Eur J Hum Genet
; 31(11): 1333-1336, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37365400
9.
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Cancers (Basel)
; 14(2)2022 Jan 12.
Article
in English
| MEDLINE | ID: mdl-35053526
10.
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Orphanet J Rare Dis
; 16(1): 109, 2021 02 27.
Article
in English
| MEDLINE | ID: mdl-33639990
11.
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report.
World J Clin Cases
; 9(25): 7472-7477, 2021 Sep 06.
Article
in English
| MEDLINE | ID: mdl-34616814
12.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Genes (Basel)
; 11(12)2020 12 18.
Article
in English
| MEDLINE | ID: mdl-33353066
13.
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Mol Genet Genomic Med
; 7(8): e845, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31290289
14.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Eur J Med Genet
; 60(12): 655-657, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28867506
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