E A Janssen
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Explore the profile of E A Janssen including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
246
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Recent Articles
1.
Soreide K, Janssen E, Korner H, Baak J
J Pathol
. 2006 May;
209(2):147-56.
PMID: 16691544
Trypsin is involved in colorectal carcinogenesis and promotes proliferation, invasion, and metastasis. Although a well-known pancreatic digestive enzyme, trypsin has also been found in other tissues and various cancers, most...
2.
Barth P, Wanders R, Vreken P, Janssen E, Lam J, Baas F
J Inherit Metab Dis
. 1999 Jul;
22(4):555-67.
PMID: 10407787
X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic acid-uria type II, endocardial fibroelastosis type 2) has been reported in patients and families from Europe, North...
3.
DAdamo P, Fassone L, GEDEON A, Janssen E, Bione S, Bolhuis P, et al.
Am J Hum Genet
. 1997 Oct;
61(4):862-7.
PMID: 9382096
Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in...
4.
Janssen E, Kemp S, Hensels G, Sie O, de Die-Smulders C, Hoogendijk J, et al.
Hum Genet
. 1997 Apr;
99(4):501-5.
PMID: 9099841
Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy...
5.
Hu L, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, et al.
Hum Mol Genet
. 1996 Jan;
5(1):139-43.
PMID: 8789451
We have recently described a female patient with myotubular myopathy (MTM1) and an interstitial deletion at Xq28. Characterisation of the deletion allowed us to position the MTM1 gene to a...
6.
Snater E, Janssen E, van der Valk P, van de Kerkhof P
Br J Dermatol
. 1995 Jun;
132(6):908-12.
PMID: 7662568
Dithranol is established as a very successful treatment for psoriasis. Its main disadvantages are irritation and staining at sites of application. The aim of the present study was to elucidate...
7.
Janssen E, Hensels G, van Oost B, Hamel B, Kemp S, Baas F, et al.
Neuromuscul Disord
. 1994 Sep;
4(5-6):455-61.
PMID: 7881289
X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two...
8.
Hensels G, Janssen E, Hoogendijk J, Valentijn L, Baas F, Bolhuis P
Clin Chem
. 1993 Sep;
39(9):1845-9.
PMID: 8375058
Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the...
9.
Hoogendijk J, Janssen E, Gabreels-Festen A, Hensels G, Joosten E, Gabreels F, et al.
Neurology
. 1993 May;
43(5):1010-5.
PMID: 8492918
The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401....
10.
Janssen E, Brocaar M, van Zanten G
Audiology
. 1993 May;
32(3):153-63.
PMID: 8489476
The aim of this study was to assess the conductive loss component (CLC) by brainstem electric response audiometry. A bone-conducted noise was used to mask out the response to a...