Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 5

Results: 14

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x

By:

Ballif, B. C.;
Theisen, A.;
McDonald-McGinn, D. M.;
Zackai, E. H.;
Hersh, J. H.;
Bejjani, B. A.;
Shaffer, L. G.

Publication type:

Article

A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 476, doi. 10.1111/j.1399-0004.2008.01025.x

By:

Weisschuh, N.;
Wolf, C.;
Wissinger, B.;
Gramer, E.

Publication type:

Article

Segmental maternal UPD(7q) in Silver–Russell syndrome.

Published in:

2008

By:

Eggermann, T.;
Schönherr, N.;
Jäger, S.;
Spaich, C.;
Ranke, M. B.;
Wollmann, H. A.;
Binder, G.

Publication type:

Letter

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 445, doi. 10.1111/j.1399-0004.2008.01062.x

By:

Menon, S. C.;
Michels, V. V.;
Pellikka, P. A.;
Ballew, J. D.;
Karst, M. L.;
Herron, K. J.;
Nelson, S. M.;
Rodeheffer, R. J.;
Olson, T. M.

Publication type:

Article

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter).

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 455, doi. 10.1111/j.1399-0004.2008.01064.x

By:

Rump, P.;
Dijkhuizen, T.;
Sikkema-Raddatz, B.;
Lemmink, H. H.;
Vos, Y. J.;
Verheij, J. B. G. M.;
Van Ravenswaaij, C. M. A.

Publication type:

Article

Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 463, doi. 10.1111/j.1399-0004.2008.01071.x

By:

Wright, W. T.;
Heggarty, S. V.;
Young, I. S.;
Nicholls, D. P.;
Whittall, R.;
Humphries, S. E.;
Graham, C. A.

Publication type:

Article

Ghosal syndrome – genetics unveiled.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 408, doi. 10.1111/j.1399-0004.2008.01080_1.x

By:

Stein, R. A.

Publication type:

Article

The genetic basis of uric acid variance.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 410, doi. 10.1111/j.1399-0004.2008.01080_2.x

By:

Stein, R. A.

Publication type:

Article

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 434, doi. 10.1111/j.1399-0004.2008.01087.x

By:

Day, R.;
Beckett, B.;
Donnai, D.;
Fryer, A.;
Heidenblad, M.;
Howard, P.;
Kerr, B.;
Mansour, S.;
Maye, U.;
McKee, S.;
Mohammed, S.;
Sweeney, E.;
Tassabehji, M.;
De Vries, B. B. A.;
Clayton-Smith, J.

Publication type:

Article

Adaptation to living with a genetic condition or risk: a mini-review.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 401, doi. 10.1111/j.1399-0004.2008.01088.x

By:

Biesecker, B. B.;
Erby, L.

Publication type:

Article

Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 414, doi. 10.1111/j.1399-0004.2008.01089.x

By:

Keller, M.;
Jost, R.;
Haunstetter, C. M.;
Sattel, H.;
Schroeter, C.;
Bertsch, U.;
Cremer, F.;
Kienle, P.;
Tariverdian, M.;
Kloor, M.;
Gebert, J.;
Brechtel, A.

Publication type:

Article

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.

Published in:

2008

By:

Li, H. Y.;
Li, N.;
Jiang, H.;
Shen, L.;
Guo, J. F.;
Zhang, R. X.;
Xia, K.;
Pan, Q.;
Zi, X. H.;
Tang, B. S.

Publication type:

Letter

Refining the phenotype of α-1a Tubulin ( TUBA1A) mutation in patients with classical lissencephaly.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 425, doi. 10.1111/j.1399-0004.2008.01093.x

By:

Morris-Rosendahl, D. J.;
Najm, J.;
Lachmeijer, A. M. A.;
Sztriha, L.;
Martins, M.;
Kuechler, A.;
Haug, V.;
Zeschnigk, C.;
Martin, P.;
Santos, M.;
Vasconcelos, C.;
Omran, H.;
Kraus, U.;
Van der Knaap, M. S.;
Schuierer, G.;
Kutsche, K.;
Uyanik, G.

Publication type:

Article

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 481, doi. 10.1111/j.1399-0004.2008.00996.x

By:

Stam, A. H.;
Vanmolkot, K. R. J.;
Kremer, H. P. H.;
Gärtner, J.;
Brown, J.;
Leshinsky-Silver, E.;
Gilad, R.;
Kors, E. E.;
Frankhuizen, W. S.;
Ginjaar, H. B.;
Haan, J.;
Frants, R. R.;
Ferrari, M. D.;
Van den Maagdenberg 1,2, A. M. J. M;
Terwindt, G. M.

Publication type:

Article