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Items: 1 to 50 of 84

1.

NF1 Somatic Mutation in Dystrophic Scoliosis.

Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA.

J Mol Neurosci. 2019 May;68(1):11-18. doi: 10.1007/s12031-019-01277-0. Epub 2019 Feb 18.

PMID:
30778836
2.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

3.

Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Peckham-Gregory EC, Montenegro RE, Stevenson DA, Viskochil DH, Scheurer ME, Lupo PJ, Schiffman JD.

Cancer Epidemiol. 2018 Jun;54:90-94. doi: 10.1016/j.canep.2018.04.005. Epub 2018 Apr 21.

PMID:
29684801
4.

Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Peckham-Gregory EC, Montenegro RE, Stevenson DA, Viskochil DH, Scheurer ME, Lupo PJ, Schiffman JD.

J Neurooncol. 2018 Aug;139(1):69-75. doi: 10.1007/s11060-018-2842-4. Epub 2018 Apr 16.

PMID:
29663170
5.

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC.

Am J Med Genet A. 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648.

PMID:
29575629
6.

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP; TSC Study Group of the San Paolo Hospital of Milan.

Eur J Med Genet. 2018 Jul;61(7):403-410. doi: 10.1016/j.ejmg.2018.02.005. Epub 2018 Feb 9.

PMID:
29432982
7.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

8.

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Schorry EK.

Am J Med Genet A. 2017 Mar;173(3):647-653. doi: 10.1002/ajmg.a.38058. Epub 2016 Nov 14.

PMID:
27862945
9.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study, Bejerano G, Bernstein JA, Chitayat D.

J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.

10.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.

Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25.

11.

Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.

Tvrdik T, Mason D, Dent KM, Thornton L, Hornton SN, Viskochil DH, Stevenson DA.

Am J Med Genet A. 2015 May;167A(5):974-82. doi: 10.1002/ajmg.a.36971. Epub 2015 Mar 8.

PMID:
25755074
12.

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.

Carroll KL, Schiffern AN, Murray KA, Stevenson DA, Viskochil DH, Toydemir R, MacWilliams BA, Roach JW.

J Pediatr Orthop. 2016 Jan;36(1):96-100. doi: 10.1097/BPO.0000000000000403.

PMID:
25705807
13.

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ, Elefteriou F, Hennessey T, Mao R.

J Med Genet. 2015 Apr;52(4):256-61. doi: 10.1136/jmedgenet-2014-102815. Epub 2015 Jan 22.

PMID:
25612910
14.

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12.

15.

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, Rios JJ.

J Bone Miner Res. 2014 Dec;29(12):2636-42. doi: 10.1002/jbmr.2298.

16.

Ophthalmologic features of Vici syndrome.

Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ.

J Pediatr Ophthalmol Strabismus. 2014 Jul 1;51(4):214-20. doi: 10.3928/01913913-20140423-02. Epub 2014 Apr 30.

PMID:
24779424
17.

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Hopman SM, Merks JH, de Borgie CA, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam RC.

Eur J Cancer. 2013 Oct;49(15):3247-54. doi: 10.1016/j.ejca.2013.06.015. Epub 2013 Jul 12.

18.

Fractures in children with neurofibromatosis type 1 from two NF clinics.

George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry EK.

Am J Med Genet A. 2013 May;161A(5):921-6. doi: 10.1002/ajmg.a.35541. Epub 2013 Mar 25.

PMID:
23529831
19.

Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium.

Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F.

J Pediatr Orthop. 2013 Apr-May;33(3):269-75. doi: 10.1097/BPO.0b013e31828121b8. Review.

PMID:
23482262
20.

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B.

Am J Med Genet A. 2013 Mar;161A(3):467-72. doi: 10.1002/ajmg.a.35718. Epub 2013 Feb 7.

PMID:
23401230
21.

Peripheral muscle weakness in RASopathies.

Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.

Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.

PMID:
22907230
22.

Total hip arthroplasty, hip osteoarthritis, total knee arthroplasty, and knee osteoarthritis in patients with developmental dysplasia of the hip and their family members: a kinship analysis report.

Schiffern AN, Stevenson DA, Carroll KL, Pimentel R, Mineau G, Viskochil DH, Roach JW.

J Pediatr Orthop. 2012 Sep;32(6):609-12. doi: 10.1097/BPO.0b013e31825fa7f2.

PMID:
22892624
23.

Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly.

Furtado LV, Putnam AR, Viskochil DH, Lowichik A, Erickson LK, Dries DC, Opitz JM.

Fetal Pediatr Pathol. 2011;30(6):397-404. doi: 10.3109/15513815.2011.618870.

PMID:
22059460
24.

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1.

Johnson BA, Macwilliams B, Carey JC, Viskochil DH, D'Astous JL, Stevenson DA.

Hum Mov Sci. 2012 Feb;31(1):247-54. doi: 10.1016/j.humov.2011.05.004. Epub 2011 Sep 8.

25.

Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1.

Stevenson DA, Viskochil DH, Carey JC, Sheng X, Murray M, Moyer-Mileur L, Shelton J, Roberts WL, Bunker AM, Hanson H, Bauer S, D'Astous JL.

J Pediatr Endocrinol Metab. 2011;24(3-4):169-74.

26.

Disorders of the ras pathway: an introduction.

Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):79-82. doi: 10.1002/ajmg.c.30301. Epub 2011 Apr 14. No abstract available.

PMID:
21495180
27.

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14.

28.

Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.

Stevenson DA, Yan J, He Y, Li H, Liu Y, Zhang Q, Jing Y, Guo Z, Zhang W, Yang D, Wu X, Hanson H, Li X, Staser K, Viskochil DH, Carey JC, Chen S, Miller L, Roberson K, Moyer-Mileur L, Yu M, Schwarz EL, Pasquali M, Yang FC.

Am J Med Genet A. 2011 May;155A(5):1050-9. doi: 10.1002/ajmg.a.33965. Epub 2011 Apr 4.

29.

Variable expression of neurofibromatosis 1 in monozygotic twins.

Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK.

Am J Med Genet A. 2011 Mar;155A(3):478-85. doi: 10.1002/ajmg.a.33851. Epub 2011 Feb 18.

PMID:
21337692
30.

Back to the future: proceedings from the 2010 NF Conference.

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG.

Am J Med Genet A. 2011 Feb;155A(2):307-21. doi: 10.1002/ajmg.a.33804. Epub 2010 Dec 22.

31.

Bone resorption in syndromes of the Ras/MAPK pathway.

Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M.

Clin Genet. 2011 Dec;80(6):566-73. doi: 10.1111/j.1399-0004.2010.01619.x. Epub 2011 Jan 19.

32.

Motor proficiency in children with neurofibromatosis type 1.

Johnson BA, MacWilliams BA, Carey JC, Viskochil DH, D'Astous JL, Stevenson DA.

Pediatr Phys Ther. 2010 Winter;22(4):344-8. doi: 10.1097/PEP.0b013e3181f9dbc8.

33.

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.

Am J Med Genet A. 2010 Aug;152A(8):1973-8. doi: 10.1002/ajmg.a.33525.

34.

SPRED 1 mutations in a neurofibromatosis clinic.

Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao.

J Child Neurol. 2010 Oct;25(10):1203-9. doi: 10.1177/0883073809359540. Epub 2010 Feb 22.

35.

Speech-language characteristics of children with neurofibromatosis type 1.

Thompson HL, Viskochil DH, Stevenson DA, Chapman KL.

Am J Med Genet A. 2010 Feb;152A(2):284-90. doi: 10.1002/ajmg.a.33235.

PMID:
20101681
36.

Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications.

Gottfried ON, Viskochil DH, Couldwell WT.

Neurosurg Focus. 2010 Jan;28(1):E8. doi: 10.3171/2009.11.FOCUS09221.

PMID:
20043723
37.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T.

Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183.

38.

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA.

Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Review.

PMID:
19764036
39.

Familial predisposition to developmental dysplasia of the hip.

Stevenson DA, Mineau G, Kerber RA, Viskochil DH, Schaefer C, Roach JW.

J Pediatr Orthop. 2009 Jul-Aug;29(5):463-6. doi: 10.1097/BPO.0b013e3181aa586b.

PMID:
19568018
40.

Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1.

Stevenson DA, Carey JC, Viskochil DH, Moyer-Mileur LJ, Slater H, Murray MA, D'Astous JL, Murray KA.

J Pediatr Orthop. 2009 Jun;29(4):385-92. doi: 10.1097/BPO.0b013e3181a567e3.

41.

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.

Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS.

J Med Genet. 2009 Jan;46(1):68-72. doi: 10.1136/jmg.2008.060152.

42.

Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography.

Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur LJ.

Bone. 2009 Apr;44(4):585-9. doi: 10.1016/j.bone.2008.12.002. Epub 2008 Dec 11.

43.

Bone mineral density in children with neurofibromatosis type 1.

Stevenson DA, Murray M, Viskochil DH, Carey JC, Moyer-Mileur LJ.

J Pediatr Orthop. 2008 Oct-Nov;28(7):791; author reply 791-2. doi: 10.1097/BPO.0b013e3181857ebe. No abstract available.

PMID:
18812910
44.

Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis.

Stevenson DA, Schwarz EL, Viskochil DH, Moyer-Mileur LJ, Murray M, Firth SD, D'Astous JL, Carey JC, Pasquali M.

Pediatr Res. 2008 Jun;63(6):697-701. doi: 10.1203/PDR.0b013e31816fee45.

45.

Brain anomalies in encephalocraniocutaneous lipomatosis.

Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB.

Am J Med Genet A. 2007 Dec 15;143A(24):2963-72.

PMID:
18000987
46.

Status of the human malformation map: 2007.

Carey JC, Viskochil DH.

Am J Med Genet A. 2007 Dec 15;143A(24):2868-85.

PMID:
18000914
47.

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr.

Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008.

PMID:
18000912
48.

Neurofibromatosis type 1 is a genetic skeletal disorder.

Stevenson DA, Viskochil DH, Carey JC.

Am J Med Genet A. 2007 Sep 1;143A(17):2082-3; author reply 2084. No abstract available.

PMID:
17702004
49.

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.

Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D'Astous J, Murray KA, Friedman JM, Armstrong L, Carey JC.

Genet Med. 2007 Jul;9(7):409-12. Review.

50.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG.

Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.

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