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

Results: 18

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

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

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

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

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

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