154 related articles for article (PubMed ID: 31004414)
1. 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]
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. 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]
5. 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]
6. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
Arts FA; Sciot R; Brichard B; Renard M; de Rocca Serra A; Dachy G; Noël LA; Velghe AI; Galant C; Debiec-Rychter M; Van Damme A; Vikkula M; Helaers R; Limaye N; Poirel HA; Demoulin JB
Hum Mol Genet; 2017 May; 26(10):1801-1810. PubMed ID: 28334876
[TBL] [Abstract][Full Text] [Related]
7. A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ; Sanchez-Contreras MY; Keppler-Noreuil KM; Sapp J; Crenshaw M; Finch NA; Cormier-Daire V; Rademakers R; Sybert VP; Biesecker LG
Am J Hum Genet; 2015 Sep; 97(3):465-74. PubMed ID: 26279204
[TBL] [Abstract][Full Text] [Related]
8. PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
Arts FA; Chand D; Pecquet C; Velghe AI; Constantinescu S; Hallberg B; Demoulin JB
Oncogene; 2016 Jun; 35(25):3239-48. PubMed ID: 26455322
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Bredrup C; Stokowy T; McGaughran J; Lee S; Sapkota D; Cristea I; Xu L; Tveit KS; Høvding G; Steen VM; Rødahl E; Bruland O; Houge G
Eur J Hum Genet; 2019 Apr; 27(4):574-581. PubMed ID: 30573803
[TBL] [Abstract][Full Text] [Related]
11. The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
Moura DAP; de Oliveira JRM
J Mol Neurosci; 2020 Dec; 70(12):2102-2106. PubMed ID: 32613555
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
Al Qawahmed R; Sawyer SL; Vassilyadi M; Qin W; Boycott KM; Michaud J
Pediatr Dev Pathol; 2019; 22(3):258-264. PubMed ID: 30103666
[TBL] [Abstract][Full Text] [Related]
14. [Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
Dereure O
Ann Dermatol Venereol; 2017; 144(8-9):574-575. PubMed ID: 28756885
[No Abstract] [Full Text] [Related]
15. Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
Linhares ND; Freire MC; Cardenas RG; Bahia M; Puzenat E; Aubin F; Pena SD
Genet Mol Res; 2014 Aug; 13(3):6287-92. PubMed ID: 25158255
[TBL] [Abstract][Full Text] [Related]
16. Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
Mudry P; Slaby O; Neradil J; Soukalova J; Melicharkova K; Rohleder O; Jezova M; Seehofnerova A; Michu E; Veselska R; Sterba J
BMC Cancer; 2017 Feb; 17(1):119. PubMed ID: 28183292
[TBL] [Abstract][Full Text] [Related]
17. A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW; Sørensen K; Fagerberg C; Bode M; Hertz JM
BMC Neurol; 2019 Apr; 19(1):60. PubMed ID: 30979360
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
Lepelletier C; Al-Sarraj Y; Bodemer C; Shaath H; Fraitag S; Kambouris M; Hamel-Teillac D; El Shanti H; Hadj-Rabia S
Acta Derm Venereol; 2017 Jul; 97(7):858-859. PubMed ID: 28417142
[No Abstract] [Full Text] [Related]
19. PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
Weller JM; Keil VC; Gielen GH; Herrlinger U; Schäfer N
Am J Med Genet A; 2019 Sep; 179(9):1895-1897. PubMed ID: 31291054
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G; Pottier C; Charbonnier C; Guyant-Maréchal L; Le Ber I; Pariente J; Labauge P; Ayrignac X; Defebvre L; Maltête D; Martinaud O; Lefaucheur R; Guillin O; Wallon D; Chaumette B; Rondepierre P; Derache N; Fromager G; Schaeffer S; Krystkowiak P; Verny C; Jurici S; Sauvée M; Vérin M; Lebouvier T; Rouaud O; Thauvin-Robinet C; Rousseau S; Rovelet-Lecrux A; Frebourg T; Campion D; Hannequin D;
Brain; 2013 Nov; 136(Pt 11):3395-407. PubMed ID: 24065723
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
