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Volume 44; Issue 8
Main
Journal of Medical Genetics
Volume 44; Issue 8
Journal of Medical Genetics
Volume 44; Issue 8
1
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon- receptor 1 and has a dominant-negative effect on interferon- signal transduction
Okada, S.
,
Ishikawa, N.
,
Shirao, K.
,
Kawaguchi, H.
,
Tsumura, M.
,
Ohno, Y.
,
Yasunaga, S.
,
Ohtsubo, M.
,
Takihara, Y.
,
Kobayashi, M.
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 572 KB
Your tags:
english, 2007
2
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
Sharif, S
,
Moran, A
,
Huson, S M
,
Iddenden, R
,
Shenton, A
,
Howard, E
,
Evans, D G R
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 168 KB
Your tags:
english, 2007
3
Correction
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2007
4
Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima media thickness
Dumont, J.
,
Zureik, M.
,
Cottel, D.
,
Montaye, M.
,
Ducimetiere, P.
,
Amouyel, P.
,
Brousseau, T.
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 232 KB
Your tags:
english, 2007
5
Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP
Suraweera, N.
,
Latchford, A.
,
McCart, A.
,
Rogers, P.
,
Spain, S.
,
Sieber, O.
,
Phillips, R.
,
Tomlinson, I.
,
Silver, A.
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 187 KB
Your tags:
english, 2007
6
Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics
Barwell, J
,
Pangon, L
,
Hodgson, S
,
Georgiou, A
,
Kesterton, I
,
Slade, T
,
Taylor, M
,
Payne, S J
,
Brinkman, H
,
Smythe, J
,
Sebire, N J
,
Solomon, E
,
Docherty, Z
,
Camplejohn, R
,
Homfray, T
,
Morris, J R
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 2007
7
Coordinated transcriptional regulation patterns associated with infertility phenotypes in men
Ellis, P. J I
,
Furlong, R. A
,
Conner, S. J
,
Kirkman-Brown, J.
,
Afnan, M.
,
Barratt, C.
,
Griffin, D. K
,
Affara, N. A
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.47 MB
Your tags:
english, 2007
8
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
Andrieux, J
,
Villenet, C
,
Quief, S
,
Lignon, S
,
Geffroy, S
,
Roumier, C
,
de Leersnyder, H
,
de Blois, M-C
,
Manouvrier, S
,
Delobel, B
,
Benzacken, B
,
Bitoun, P
,
Attie-Bitach, T
,
Thomas, S
,
Lyonnet, S
,
Veke
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 304 KB
Your tags:
english, 2007
9
Response to correspondence on "Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening"
Smith, A
,
Boyd, M C
,
Bulman, M
,
Shenton, A
,
Lalloo, F
,
Evans, D G R
,
Moran, A
,
Iddenden, R
,
Smith, L
,
Woodward, E R
,
Maher, E R
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2007
10
Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies
Ni, X.
,
Valente, J.
,
Azevedo, M. H
,
Pato, M. T
,
Pato, C. N
,
Kennedy, J. L
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2007
11
A functional CD86 polymorphism associated with asthma and related allergic disorders
Corydon, T. J.
,
Haagerup, A.
,
Jensen, T. G.
,
Binderup, H. G.
,
Petersen, M. S.
,
Kaltoft, K.
,
Vestbo, J.
,
Kruse, T. A.
,
Borglum, A. D.
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 529 KB
Your tags:
english, 2007
12
Unexplained autism is frequently associated with low-level mosaic aneuploidy
Yurov, Y B
,
Vorsanova, S G
,
Iourov, I Y
,
Demidova, I A
,
Beresheva, A K
,
Kravetz, V S
,
Monakhov, V V
,
Kolotii, A D
,
Voinova-Ulas, V Y
,
Gorbachevskaya, N L
Journal:
Journal of Medical Genetics
Year:
2007
Language:
english
File:
PDF, 519 KB
Your tags:
english, 2007
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