D Viskochil
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Explore the profile of D Viskochil including associated specialties, affiliations and a list of published articles.
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37
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2300
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Recent Articles
1.
Johnson K, Fisher M, Listernick R, North K, Schorry E, Viskochil D, et al.
Fam Cancer
. 2012 Jul;
11(4):653-6.
PMID: 22829012
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant cancer syndromes worldwide. Individuals with NF1 have a wide variety of clinical features including a strongly increased risk...
2.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, et al.
Am J Med Genet A
. 2009 Sep;
149A(10):2173-80.
PMID: 19764032
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among...
3.
Upadhyaya M, Huson S, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al.
Am J Hum Genet
. 2006 Dec;
80(1):140-51.
PMID: 17160901
Neurofibromatosis type 1 (NF1) is characterized by cafe-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the NF1 gene and a specific phenotype...
4.
Gutmann D, James C, Poyhonen M, Louis D, Ferner R, Guha A, et al.
Neurology
. 2003 Nov;
61(10):1397-400.
PMID: 14638962
Background: Fifteen to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade astrocytomas. Although brain tumors are less common in teenagers and adults with NF1, recent studies have suggested...
5.
Packer R, Gutmann D, Rubenstein A, Viskochil D, Zimmerman R, Vezina G, et al.
Neurology
. 2002 Jun;
58(10):1461-70.
PMID: 12041525
Neurofibromatosis type 1 (NF1) is one of the most common neurogenetic diseases affecting adults and children. Neurofibromas are one of the most common of the protean manifestations of NF1. Plexiform...
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7.
DeClue J, Heffelfinger S, Benvenuto G, Ling B, Li S, Rui W, et al.
J Clin Invest
. 2000 May;
105(9):1233-41.
PMID: 10791998
We have found that EGF-R expression is associated with the development of the Schwann cell-derived tumors characteristic of neurofibromatosis type 1 (NF1) and in animal models of this disease. This...
8.
Dobyns W, Berry-Kravis E, Havernick N, Holden K, Viskochil D
Am J Med Genet
. 1999 Sep;
86(4):331-7.
PMID: 10494089
Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior...
9.
10.
Leppig K, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K
Am J Med Genet
. 1997 Dec;
73(2):197-204.
PMID: 9409873
A notable subset of the recent literature on the disorder neurofibromatosis type 1 (NF1) describes patients with NF1, facial anomalies, and other unusual findings. We describe a molecular re-evaluation of...