Publications by authors named "David Viskochil"

99Publications

Further Lessons Learned From a Child With NF1 and Classical Hodgkin Lymphoma.

J Pediatr Hematol Oncol 2020 Sep 9. Epub 2020 Sep 9.

Division of Pediatric Hematology Oncology.

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http://dx.doi.org/10.1097/MPH.0000000000001936DOI Listing
September 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Am J Med Genet A 2019 12 22;179(12):2425-2432. Epub 2019 Oct 22.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.61378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899772PMC
December 2019

NF1 Somatic Mutation in Dystrophic Scoliosis.

J Mol Neurosci 2019 May 18;68(1):11-18. Epub 2019 Feb 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr., H315, Stanford, CA, 94305, USA.

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http://dx.doi.org/10.1007/s12031-019-01277-0DOI Listing
May 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Neurocutaneous disorders.

Authors:
David Viskochil

Am J Med Genet C Semin Med Genet 2018 09 23;178(3):278-280. Epub 2018 Sep 23.

Division of Medical Genetics, University of Utah, Pediatrics, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.c.31650DOI Listing
September 2018

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

Cancer Epidemiol 2018 06 21;54:90-94. Epub 2018 Apr 21.

Department of Pediatrics and Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT 84112, United States. Electronic address:

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http://dx.doi.org/10.1016/j.canep.2018.04.005DOI Listing
June 2018

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

J Neurooncol 2018 Aug 16;139(1):69-75. Epub 2018 Apr 16.

Department of Pediatrics and Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA.

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http://dx.doi.org/10.1007/s11060-018-2842-4DOI Listing
August 2018

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

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38648DOI Listing
April 2018

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

Eur J Med Genet 2018 Jul 9;61(7):403-410. Epub 2018 Feb 9.

Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2018.02.005DOI Listing
July 2018

Volumetric MRI in Neurofibromatosis Type 1 (NF1) Comes of Age to Help Determine Initiation and Monitoring of Targeted Therapies for Plexiform Neurofibromas.

Acad Radiol 2018 02 13;25(2):141-143. Epub 2017 Dec 13.

Pediatric Radiologist and Neuroradiologist, University of Utah, Primary Children's Hospital, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.acra.2017.11.003DOI Listing
February 2018

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

J Natl Cancer Inst 2017 08;109(8)

Rare Tumor Initiative, Laboratory of Pathology, and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD; Neurofibromatosis Center, Department of Neurology Guy's Hospital London, London, UK; Department of Neurology, Washington University School of Medicine, St. Louis, MO; Department of Human Genetics, University of Leuven, Leuven, Belgium; Hunstman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH; Bill and Melinda Gates Foundation, Seattle, WA; Children's Tumor Foundation, New York, NY; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.

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http://dx.doi.org/10.1093/jnci/djx124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057517PMC
August 2017

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.

Dev Med Child Neurol 2017 12 11;59(12):1269-1275. Epub 2017 Sep 11.

Department of Orthopedics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1111/dmcn.13545DOI Listing
December 2017

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

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.

Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38369DOI Listing
October 2017

Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.

Sarcoma 2017 16;2017:7429697. Epub 2017 May 16.

National Cancer Institute, Pediatric Oncology Branch, 10 Center Drive, Room 1-3742, Building 10, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1155/2017/7429697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448069PMC
May 2017

Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1.

J Clin Densitom 2018 Apr - Jun;21(2):179-184. Epub 2017 Apr 21.

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.jocd.2017.03.004DOI Listing
November 2019

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.

Neurology 2016 Dec 9;87(24):2575-2584. Epub 2016 Nov 9.

From the Murdoch Children's Research Institute (J.M.P., S.J.C.H., K.N.N.), Royal Children's Hospital; Department of Paediatrics (J.M.P., K.N.N.), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne; Children's Hospital Education Research Institute (B.B.), Children's Hospital at Westmead; Discipline of Paediatrics and Child Health (B.B.), University of Sydney, Australia; Department of Neurology (N.J.U., C.R.-C.), Boston Children's Hospital, MA; Department of Preventative Medicine (A.C.), School of Public Health (G.C.), Department of Psychology (J.D.A.), and Department of Genetics (B.K.), University of Alabama at Birmingham; Department of Neurology (T.R., S.H.O.), Children's Hospital of Los Angeles, CA; Center for Neuroscience and Behavioral Medicine (K.S.W., G.A.G., R.J.P., M.T.A.), Children's National Health System, Washington, DC; Pediatric Oncology Branch Center for Cancer Research (P.L.W.), National Cancer Institute, Bethesda, MD; Division of Neurology (J.T., S.J.H.), University of Chicago Medicine Comer Children's Hospital, IL; Human Genetics (E.S.) and Division of Neurology (A.W.B.), Cincinnati Children's Hospital Medical Center, OH; Department of Genetics (D.V.), University of Utah, Salt Lake City; Department of Pediatrics (L.K.), University of Texas Southwestern Medical Center, Dallas; Division of Oncology (M.F., C.L.A.), Children's Hospital of Philadelphia, PA; Department of Neurology (D.H.G., J.I.), Washington University School of Medicine in St Louis, MO; Gonda Neuroscience and Genetics Center (A.J.S.), University of California Los Angeles; Primary Children's Hospital (N.L.C.), Salt Lake City, UT; and University of Texas MD Anderson Cancer Center (P.L.S.), Houston.

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http://dx.doi.org/10.1212/WNL.0000000000003435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207004PMC
December 2016

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

Am J Med Genet A 2017 Mar 14;173(3):647-653. Epub 2016 Nov 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38058DOI Listing
March 2017

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

Am J Med Genet A 2015 May 8;167A(5):974-82. Epub 2015 Mar 8.

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36971DOI Listing
May 2015

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

J Pediatr Orthop 2016 Jan;36(1):96-100

*Salt Lake City Shriners Hospitals for Children ‡Division of Medical Genetics §ARUP Laboratories, Department of Pathology, University of Utah, Salt Lake City, UT †Gillette Children's Specialty Healthcare, Saint Paul, MN ∥Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1097/BPO.0000000000000403DOI Listing
January 2016

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

J Med Genet 2015 Apr 22;52(4):256-61. Epub 2015 Jan 22.

ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA Department of Pathology, University of Utah, School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102815DOI Listing
April 2015

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.

Neuro Oncol 2015 Apr 14;17(4):596-603. Epub 2014 Oct 14.

Division of Oncology, Cincinnati Children's Hospital Medical Center, Cancer and Blood Diseases Institute, Cincinnati, Ohio (B.W., J.P.); Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio (E.S.); Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio (A.V.); National Cancer Institute, Pediatric Oncology Branch, Bethesda, Maryland (B.C.W, E.D., P.W.); Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama (B.K.); Department of Preventitive Medicine, University of Alabama at Birmingham, Birmingham, Alabama (A.C.); Department of Neurology, Boston Children's Hospital, Boston, Massachusetts (N.U.); Department of Neurology, Washington University, St. Louis, Missouri (D.H.G.); Children's National Health System, Center for Neuroscience and Behavioral Medicine, Washington, DC (R.J.P.); Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (M.J.F.); Division of Genetics, Primary Children's Hospital, Salt Lake City, Utah (D.V.); Division of Neurology, The University of Chicago Medicine Comer Children's Hospital, Chicago, Illinois (J.T.).

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http://dx.doi.org/10.1093/neuonc/nou235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483073PMC
April 2015

The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma.

J Surg Oncol 2014 Dec 11;110(7):813-6. Epub 2014 Aug 11.

Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/jso.23736DOI Listing
December 2014

Ophthalmologic features of Vici syndrome.

J Pediatr Ophthalmol Strabismus 2014 Jul 30;51(4):214-20. Epub 2014 Apr 30.

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http://dx.doi.org/10.3928/01913913-20140423-02DOI Listing
July 2014

Screening children with neurofibromatosis type 1 for autism spectrum disorder.

Am J Med Genet A 2014 Jul 8;164A(7):1706-12. Epub 2014 Apr 8.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36549DOI Listing
July 2014

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Am J Med Genet A 2014 May 24;164A(5):1304-9. Epub 2014 Mar 24.

Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36447DOI Listing
May 2014

Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect.

Cancers (Basel) 2013 May 8;5(2):519-28. Epub 2013 May 8.

Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute and Primary Childrens Medical Center, University of Utah, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.3390/cancers5020519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3730330PMC
May 2013

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

Am J Med Genet A 2013 May 25;161A(5):921-6. Epub 2013 Mar 25.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.35541DOI Listing
May 2013

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

Am J Med Genet A 2013 Mar 7;161A(3):467-72. Epub 2013 Feb 7.

Department of Pathology, University of Utah, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.35718DOI Listing
March 2013

Peripheral muscle weakness in RASopathies.

Muscle Nerve 2012 Sep;46(3):394-9

University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/mus.23324DOI Listing
September 2012

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

Fetal Pediatr Pathol 2011 ;30(6):397-404

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.3109/15513815.2011.618870DOI Listing
March 2012

Disorders of the ras pathway: an introduction.

Am J Med Genet C Semin Med Genet 2011 May 14;157C(2):79-82. Epub 2011 Apr 14.

Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, 2C412, 50 Mario Capecchi Drive, Salt Lake City, UT 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30301
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http://dx.doi.org/10.1002/ajmg.c.30301DOI Listing
May 2011

Variable expression of neurofibromatosis 1 in monozygotic twins.

Am J Med Genet A 2011 Mar 18;155A(3):478-85. Epub 2011 Feb 18.

Eastern Maine Medical Center, Bangor, Maine, USA.

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http://dx.doi.org/10.1002/ajmg.a.33851DOI Listing
March 2011

SPRED 1 mutations in a neurofibromatosis clinic.

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

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1177/0883073809359540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243064PMC
October 2010

Speech-language characteristics of children with neurofibromatosis type 1.

Am J Med Genet A 2010 Feb;152A(2):284-90

Department of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT 84112-0252, USA.

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http://dx.doi.org/10.1002/ajmg.a.33235DOI Listing
February 2010

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

Neurosurg Focus 2010 Jan;28(1):E8

Department of Neurosurgery, Division of Genetics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.3171/2009.11.FOCUS09221DOI Listing
January 2010

Familial predisposition to developmental dysplasia of the hip.

J Pediatr Orthop 2009 Jul-Aug;29(5):463-6

Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.

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https://insights.ovid.com/crossref?an=01241398-200907000-000
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http://dx.doi.org/10.1097/BPO.0b013e3181aa586bDOI Listing
September 2009

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

J Pediatr Orthop 2009 Jun;29(4):385-92

Shriners Hospitals for Children, Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1097/BPO.0b013e3181a567e3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745207PMC
June 2009

Brain anomalies in encephalocraniocutaneous lipomatosis.

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

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32074DOI Listing
December 2007

Status of the human malformation map: 2007.

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

Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.32103DOI Listing
December 2007

Neurofibromatosis type 1 is a genetic skeletal disorder.

Am J Med Genet A 2007 Sep;143A(17):2082-3; author reply 2084

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http://doi.wiley.com/10.1002/ajmg.a.31758
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http://dx.doi.org/10.1002/ajmg.a.31758DOI Listing
September 2007

Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis.

Pediatr Dev Pathol 2006 Jul-Aug;9(4):297-306

Departments of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA. Cammon.

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http://dx.doi.org/10.2350/06-01-0014.1DOI Listing
September 2006

Double inactivation of NF1 in tibial pseudarthrosis.

Am J Hum Genet 2006 Jul 10;79(1):143-8. Epub 2006 May 10.

Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA.

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http://dx.doi.org/10.1086/504441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474128PMC
July 2006

Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications.

Neurosurgery 2006 Jan;58(1):1-16; discussion 1-16

Department of Neurosurgery, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1227/01.neu.0000190651.45384.8bDOI Listing
January 2006

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

Am J Med Genet A 2005 Mar;133A(3):326-30

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.30562DOI Listing
March 2005

Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome?

Am J Med Genet A 2004 Jul;128A(1):52-6

Department of Pediatrics, University of Utah School of Medicine, Health Sciences Center, 50 North Medical Drive, Salt Lake City, UT 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30006
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http://dx.doi.org/10.1002/ajmg.a.30006DOI Listing
July 2004

Elevated catecholamine metabolites in patients with Costello syndrome.

Am J Med Genet A 2004 Jul;128A(1):48-51

Division of Medical Genetics, A. I. duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA.

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http://dx.doi.org/10.1002/ajmg.a.30100DOI Listing
July 2004

Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1.

Am J Med Genet A 2004 May;127A(1):40-3

Department of Pathology, The University of Utah School of Medicine, 100 North Medical Drive, Salt Lake City, UT 84113, USA.

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http://dx.doi.org/10.1002/ajmg.a.20651DOI Listing
May 2004

It takes two to tango: mast cell and Schwann cell interactions in neurofibromas.

J Clin Invest 2003 Dec;112(12):1791-3

Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1172/JCI20503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC297005PMC
December 2003