133 related articles for article (PubMed ID: 33382209)
1. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
Takenouchi T; Kodo K; Yamazaki F; Nakatomi H; Kosaki K
Am J Med Genet A; 2021 Mar; 185(3):999-1003. PubMed ID: 33382209
[TBL] [Abstract][Full Text] [Related]
2. Expansion of the phenotype of Kosaki overgrowth syndrome.
Minatogawa M; Takenouchi T; Tsuyusaki Y; Iwasaki F; Uehara T; Kurosawa K; Kosaki K; Curry CJ
Am J Med Genet A; 2017 Sep; 173(9):2422-2427. PubMed ID: 28639748
[TBL] [Abstract][Full Text] [Related]
3. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
Takenouchi T; Okuno H; Kosaki K
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):650-657. PubMed ID: 31710779
[TBL] [Abstract][Full Text] [Related]
4. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J; Hu Y; Hetts S; Cooke D; Dowd C; Devine P; ; Russell B; Kang SHL; Chang VY; Abla AA; Cornett P; Yeh I; Lee H; Martinez-Agosto JA; Frieden IJ; Shieh JT
Am J Med Genet A; 2021 May; 185(5):1430-1436. PubMed ID: 33683022
[TBL] [Abstract][Full Text] [Related]
5. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Zarate YA; Boccuto L; Srikanth S; Pauly R; Ocal E; Balmakund T; Hinkle K; Stefans V; Schaefer GB; Collins RT
Am J Med Genet A; 2019 Jun; 179(6):1047-1052. PubMed ID: 30941910
[TBL] [Abstract][Full Text] [Related]
6. Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A; Chalot B; Antoniadi T; Schaefer E; Keelagher R; Ryan G; Thomas Q; Philippe C; Bruel AL; Sorlin A; Thauvin-Robinet C; Bardou M; Luu M; Quenardelle V; Wolff V; Woodley J; Vabres P; Lim D; Igbokwe R; Joseph A; Walker H; Jester A; Ellenbogen J; Johnson D; Rooke B; Moss C; Cole T; Faivre L
Clin Genet; 2020 Jul; 98(1):19-31. PubMed ID: 32291752
[TBL] [Abstract][Full Text] [Related]
7. Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.
Parada CA; El-Ghazali FM; Toglia D; Ruzevick J; McAvoy M; Emerson S; Karasozen Y; Busald T; Nazem AA; Suranowitz SM; Shalhub S; Marshall DA; Gonzalez-Cuyar LF; Dorschner MO; Ferreira M
J Am Heart Assoc; 2022 Feb; 11(4):e024289. PubMed ID: 35156398
[TBL] [Abstract][Full Text] [Related]
8. A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Guimier A; Gordon CT; Hully M; Blauwblomme T; Minard-Colin V; Bole-Feysot C; Nitschké P; Oufadem M; Boddaert N; Sarnacki S; Amiel J
Am J Med Genet A; 2019 Jul; 179(7):1304-1309. PubMed ID: 31004414
[TBL] [Abstract][Full Text] [Related]
9. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
Karasozen Y; Osbun JW; Parada CA; Busald T; Tatman P; Gonzalez-Cuyar LF; Hale CJ; Alcantara D; O'Driscoll M; Dobyns WB; Murray M; Kim LJ; Byers P; Dorschner MO; Ferreira M
Am J Hum Genet; 2019 May; 104(5):968-976. PubMed ID: 31031011
[TBL] [Abstract][Full Text] [Related]
10. Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P; Pelc M; Ciara E; Jhangiani S; Jurkiewicz E; Gambin T; Różdżyńska-Świątkowska A; Dawidziuk M; Coban-Akdemir ZH; Guilbride DL; Muzny D; Lupski JR; Krajewska-Walasek M
Clin Genet; 2018 Apr; 93(4):919-924. PubMed ID: 29226947
[TBL] [Abstract][Full Text] [Related]
11. Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.
Hao L; Ya X; Wu J; Tao C; Ma R; Zheng Z; Mou S; Ling Y; Yang Y; Wang J; Zhang Y; Lin Q; Zhao J
J Biomed Sci; 2024 May; 31(1):51. PubMed ID: 38741091
[TBL] [Abstract][Full Text] [Related]
12. STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.
He C; Medley SC; Kim J; Sun C; Kwon HR; Sakashita H; Pincu Y; Yao L; Eppard D; Dai B; Berry WL; Griffin TM; Olson LE
Genes Dev; 2017 Aug; 31(16):1666-1678. PubMed ID: 28924035
[TBL] [Abstract][Full Text] [Related]
13. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL; Bly RA; Wu N; Albert CM; Park J; Shieh J; Chenbhanich J; Heike CL; Adam MP; Chang I; Sun A; Miller DE; Beck AE; Gupta D; Boos MD; Zackai EH; Everman D; Ganapathi S; Wilson M; Christodoulou J; Zarate YA; Curry C; Li D; Guimier A; Amiel J; Hakonarson H; Webster R; Bhoj EJ; Perkins JA; Dahl JP; Dobyns WB
Am J Med Genet A; 2020 Jul; 182(7):1576-1591. PubMed ID: 32500973
[TBL] [Abstract][Full Text] [Related]
14. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Hernández Dorronsoro U; Gawlinski P; Lasa-Aranzasti A; Martínez-Soroa I; Artola Aizalde E; Saez Villaverde R; Aguirre Rodríguez C; Satrustegi Aritziturri M
Clin Genet; 2022 Jan; 101(1):144-145. PubMed ID: 34708400
[No Abstract] [Full Text] [Related]
15. Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.
Mazzella JM; Frank M; Collignon P; Langeois M; Legrand A; Jeunemaitre X; Albuisson J
Clin Genet; 2017 Mar; 91(3):458-462. PubMed ID: 27440102
[TBL] [Abstract][Full Text] [Related]
16. Kosaki Overgrowth Syndrome: Report of a Family with a Novel
Mutlu Albayrak H; Calder AD
Mol Syndromol; 2022 Feb; 13(1):38-44. PubMed ID: 35221873
[TBL] [Abstract][Full Text] [Related]
17. Skeletal stem cell fate defects caused by Pdgfrb activating mutation.
Kwon HR; Kim JH; Woods JP; Olson LE
Development; 2021 Dec; 148(23):. PubMed ID: 34738614
[TBL] [Abstract][Full Text] [Related]
18. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
Kiliç E; Alanay Y; Utine E; Ozgen-Mocan B; Robinson PN; Boduroğlu K
Turk J Pediatr; 2012; 54(2):198-202. PubMed ID: 22734312
[TBL] [Abstract][Full Text] [Related]
19. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
[TBL] [Abstract][Full Text] [Related]
20. Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
Nédélec A; Guérit EM; Dachy G; Lenglez S; Wong LS; Arts FA; Demoulin JB
J Cell Mol Med; 2022 Jul; 26(14):3902-3912. PubMed ID: 35689379
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
