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Items: 1 to 20 of 97

1.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.

Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.

2.

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.

Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23.

3.

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 15;13(3):6287-92. doi: 10.4238/2014.August.15.11.

4.

Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.

Lee JW.

Clin Genet. 2013 Oct;84(4):340-1. doi: 10.1111/cge.12238. Epub 2013 Jul 31. No abstract available.

PMID:
23865785
5.

[Autosomal dominant (familial) infantile myofibromatosis: The causative role of mutations in PDGFRB and NOTCH3].

Dereure O.

Ann Dermatol Venereol. 2013 Dec;140(12):833-4. doi: 10.1016/j.annder.2013.08.004. Epub 2013 Sep 26. French. No abstract available.

PMID:
24315235
6.

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):643-8. doi: 10.1016/j.ejmg.2014.08.010. Epub 2014 Sep 18.

7.

Autosomal dominant inheritance of infantile myofibromatosis.

Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH.

Am J Med Genet A. 2004 Apr 30;126A(3):261-6. Review.

PMID:
15054839
8.

Infantile myofibromatosis: two families supporting autosomal dominant inheritance.

Smith A, Orchard D.

Australas J Dermatol. 2011 Aug;52(3):214-7. doi: 10.1111/j.1440-0960.2011.00730.x. Epub 2011 Mar 1.

PMID:
21834820
9.

Infantile myofibromatosis: support for autosomal dominant inheritance.

Ikediobi NI, Iyengar V, Hwang L, Collins WE, Metry DW.

J Am Acad Dermatol. 2003 Aug;49(2 Suppl Case Reports):S148-50.

PMID:
12894106
10.

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.

Kulkarni K, Desai S, Grundy P, Sergi C.

J Pediatr Surg. 2012 Dec;47(12):2312-5. doi: 10.1016/j.jpedsurg.2012.09.046.

PMID:
23217896
11.

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 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.

12.

[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].

Wang ZX, Lu H, Zhang Y, Bu DF, Niu XY, Zhang Z, Huang YN, Yuan Y.

Zhonghua Yi Xue Za Zhi. 2004 Jul 17;84(14):1175-80. Chinese.

PMID:
15387979
13.

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.

PMID:
23255827
14.

Congenital myofibromatosis in two siblings.

Arcangeli F, Calista D.

Eur J Dermatol. 2006 Mar-Apr;16(2):181-3.

PMID:
16581573
15.

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; French IBGC Study Group.

Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24.

16.

[Identification of a novel NOTCH3 mutation in a family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].

Zhu Y, Wang J, Wu Y, Wang G, Hu B, Xu A.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):578-81. doi: 10.3760/cma.j.issn.1003-9406.2014.01.008. Chinese.

PMID:
25297585
17.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

18.

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 23;35(25):3239-48. doi: 10.1038/onc.2015.383. Epub 2015 Oct 12.

PMID:
26455322
19.

Familial occurrence of infantile myofibromatosis.

Bracko M, Cindro L, Golouh R.

Cancer. 1992 Mar 1;69(5):1294-9. Review.

20.

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV.

Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.

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