Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 4

Results: 17

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 357, doi. 10.1111/j.1399-0004.2009.01194.x

By:

Nemos, C.;
Lambert, L.;
Giuliano, F.;
Doray, B.;
Roubertie, A.;
Goldenberg, A.;
Delobel, B.;
Layet, V.;
N’guyen, M. A.;
Saunier, A.;
Verneau, F.;
Jonveaux, P.;
Philippe, C.

Publication type:

Article

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 392, doi. 10.1111/j.1399-0004.2009.01198.x

By:

Castiglia, D.;
Castori, M.;
Pisaneschi, E.;
Sommi, M.;
Covaciu, C.;
Zambruno, G.;
Fischer, J.;
Magnani, C.

Publication type:

Article

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 409, doi. 10.1111/j.1399-0004.2009.01205.x

By:

Scherber, E.;
Beutel, K.;
Ganschow, R.;
Schulz, A.;
Janka, G.;
Stadt, U. zur

Publication type:

Article

Parental SCN1A mutation mosaicism in familial Dravet syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 398, doi. 10.1111/j.1399-0004.2009.01208.x

By:

Selmer, K. K.;
Eriksson, A.-S.;
Brandal, K.;
Egeland, T.;
Tallaksen, C.;
Undlien, D. E.

Publication type:

Article

Copy number changes of the microcephalin 1 gene ( MCPH1) in patients with autism spectrum disorders.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 348, doi. 10.1111/j.1399-0004.2009.01254.x

By:

Ozgen, H. M.;
van Daalen, E.;
Bolton, P. F.;
Maloney, V. K.;
Huang, S.;
Cresswell, L.;
van den Boogaard, M. J.;
Eleveld, M. J.;
van ‘t Slot, R.;
Hochstenbach, R.;
Beemer, F. A.;
Barrow, M.;
Barber, J. C. K.;
Poot, M.

Publication type:

Article

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01211.x

By:

Todt, Ingo;
Mazereeuw-Hautier, Juliette;
Binder, Barbara;
Willems, Patrick J.

Publication type:

Article

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 372, doi. 10.1111/j.1399-0004.2009.01214.x

By:

Kohan, R.;
Cismondi, I. A.;
Dodelson Kremer, R.;
Muller, V. J.;
Guelbert, N.;
Tapia Anzolini, V.;
Fietz, M. J.;
Oller Ramírez, A. M.;
Noher Halac, I.

Publication type:

Article

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 417, doi. 10.1111/j.1399-0004.2009.01232.x

By:

Lee, N.-C.;
Huang, C.-H.;
Hwu, W.-L.;
Chien, Y.-H.;
Chang, Y.-Y.;
Chen, C.-H.;
Ko, T.-M.

Publication type:

Article

Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 332, doi. 10.1111/j.1399-0004.2009.01243.x

By:

Van Raamsdonk, C. D.

Publication type:

Article

Identifying mental health services in clinical genetic settings.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 326, doi. 10.1111/j.1399-0004.2009.01250.x

By:

Cappelli, M.;
Esplen, M. J.;
Wilson, B. J.;
Dorval, M.;
Bottorff, J. L.;
Ly, M.;
Carroll, J. C.;
Allanson, J.;
Humphreys, E.;
Rayson, D.

Publication type:

Article

Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 413, doi. 10.1111/j.1399-0004.2009.01212.x

By:

Tosetto, E.;
Ceol, M.;
Mezzabotta, F.;
Ammenti, A.;
Peruzzi, L.;
Caruso, M. R.;
Barbano, G.;
Vezzoli, G.;
Colussi, G.;
Vergine, G.;
Giordano, M.;
Glorioso, N.;
Degortes, S.;
Soldati, L.;
Sayer, J.;
D'Angelo, A.;
Anglani, F.

Publication type:

Article

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 383, doi. 10.1111/j.1399-0004.2009.01257.x

By:

Nakanishi, H.;
Ohtsubo, M.;
Iwasaki, S.;
Hotta, Y.;
Mizuta, K.;
Mineta, H.;
Minoshima, S.

Publication type:

Article

An ancient disorder under iron control.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 341, doi. 10.1111/j.1399-0004.2009.01260_1.x

By:

Metzler, M.

Publication type:

Article

MicroRNAs become large in hearing loss.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 343, doi. 10.1111/j.1399-0004.2009.01260_2.x

By:

Metzler, M.

Publication type:

Article

Diverse effects in Friedreich's ataxia place PGC-1α center-stage.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 345, doi. 10.1111/j.1399-0004.2009.01260_3.x

By:

Metzler, M.

Publication type:

Article

Cornelia de Lange syndrome, cohesin, and beyond.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 303, doi. 10.1111/j.1399-0004.2009.01271.x

By:

Liu, J.;
Krantz, I. D.

Publication type:

Article

Preimplantation genetic diagnosis.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 315, doi. 10.1111/j.1399-0004.2009.01273.x

By:

Geraedts, J. P. M.;
De Wert, G. M. W. R.

Publication type:

Article