Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 3

Results: 18

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 258, doi. 10.1111/j.1399-0004.2009.01290.x
By:
- Saal, S.;
- Faivre, L.;
- Aral, Bernard;
- Gigot, N.;
- Toutain, A.;
- Van Maldergem, L.;
- Destree, A.;
- Maystadt, I.;
- Cosyns, J.-P.;
- Jouk, P.-S.;
- Loeys, B.;
- Chauveau, D.;
- Bieth, E.;
- Layet, V.;
- Mathieu, M.;
- Lespinasse, J.;
- Teebi, A.;
- Franco, B.;
- Gautier, E.;
- Binquet, C.
Publication type:
Article
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 293, doi. 10.1111/j.1399-0004.2009.01292.x
By:
- Bacci, C.;
- Sestini, R.;
- Ammannati, F.;
- Bianchini, E.;
- Palladino, T.;
- Carella, M.;
- Melchionda, S.;
- Zelante, L.;
- Papi, L.
Publication type:
Article
Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 287, doi. 10.1111/j.1399-0004.2009.01293.x
By:
- Elger, B. S.;
- Michaud, K.;
- Fellmann, F.;
- Mangin, P.
Publication type:
Article
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 249, doi. 10.1111/j.1399-0004.2009.01306.x
By:
- Leuzzi, V.;
- Carducci, Ca.;
- Carducci, Cl.;
- Pozzessere, S.;
- Burlina, A.;
- Cerone, R.;
- Concolino, D.;
- Donati, M. A.;
- Fiori, L.;
- Meli, C.;
- Ponzone, A.;
- Porta, F.;
- Strisciuglio, P.;
- Antonozzi, I.;
- Blau, N.
Publication type:
Article
Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 241, doi. 10.1111/j.1399-0004.2009.01308.x
By:
- Delatycki, M. B.;
- Wolthuizen, M.;
- Collins, V.;
- Varley, E.;
- Craven, J.;
- Allen, K. J.;
- Aitken, M. A.;
- Bond, L.;
- Lockhart, P. J.;
- Wilson, G. R.;
- Macciocca, I.;
- Metcalfe, S. A.
Publication type:
Article
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 280, doi. 10.1111/j.1399-0004.2009.01311.x
By:
- Hamid, R.;
- Hedges, L. K.;
- Austin, E.;
- Phillips, III, J. A.;
- Loyd, J. E.;
- Cogan, J. D.
Publication type:
Article
Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 266, doi. 10.1111/j.1399-0004.2009.01314.x
By:
- Jung, C.;
- Dagoneau, N.;
- Baujat, G.;
- Le Merrer, M.;
- David, A.;
- Di Rocco, M.;
- Hamel, B.;
- Mégarban, A.;
- Superti-Furga, A.;
- Unger, S.;
- Munnich, A.;
- Cormier-Daire, V.
Publication type:
Article
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 302, doi. 10.1111/j.1399-0004.2009.01319.x
By:
- Funke, A. D.;
- Esser, M.;
- Krüttgen, A.;
- Weis, J.;
- Mitne-Neto, M.;
- Lazar, M.;
- Nishimura, A. L.;
- Sperfeld, A. D.;
- Trillenberg, P.;
- Senderek, J.;
- Krasnianski, M.;
- Zatz, M.;
- Zierz, S.;
- Deschauer, M.
Publication type:
Article
A neuronal gene mutation that kills glia.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 227, doi. 10.1111/j.1399-0004.2009.01320.x
By:
- Huang, K.
Publication type:
Article
Not identical: twins studies to reveal epigenetic differences.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 228, doi. 10.1111/j.1399-0004.2009.01321.x
By:
- Huang, K.
Publication type:
Article
A K+ channel that channels neurology to nephrology.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 230, doi. 10.1111/j.1399-0004.2009.01322.x
By:
- Huang, K.
Publication type:
Article
Erratum.
Published in:
2010
Publication type:
Correction Notice
Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families?
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 273, doi. 10.1111/j.1399-0004.2009.01328.x
By:
- Panchal, S.;
- Bordeleau, L.;
- Poll, A.;
- Llacuachaqui, M.;
- Shachar, O.;
- Ainsworth, P.;
- Armel, S.;
- Eisen, A.;
- Sun, P.;
- Narod, S. A.
Publication type:
Article
The Human Genetics Historical Library: an international resource for geneticists and historians.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 214, doi. 10.1111/j.1399-0004.2009.01332.x
By:
- Harper, P. S.;
- Pierce, K.
Publication type:
Article
Death in CHARGE syndrome after the neonatal period.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 232, doi. 10.1111/j.1399-0004.2009.01334.x
By:
- Bergman, J. E. H.;
- Blake, K. D.;
- Bakker, M. K.;
- du Marchie Sarvaas, G. J.;
- Free, R. H.;
- van Ravenswaaij-Arts, C. M. A.
Publication type:
Article
Gene copy number variation and common human disease.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 201, doi. 10.1111/j.1399-0004.2009.01342.x
By:
- Fanciulli, M.;
- Petretto, E.;
- Aitman, T. J.
Publication type:
Article
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 298, doi. 10.1111/j.1399-0004.2009.01348.x
By:
- Palka, C.;
- Giuliani, R.;
- Brancati, F.;
- Mohn, A.;
- Di Muzio, A.;
- Calabrese, O.;
- Huebner, A.;
- De Grandis, D.;
- Chiarelli, F.;
- Ferlini, A.;
- Stuppia, L.
Publication type:
Article
Genetic implications and health consequences following the Chernobyl nuclear accident.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 221, doi. 10.1111/j.1399-0004.2009.01364.x
By:
- Kozenko, M.;
- Chudley, A. E.
Publication type:
Article