Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 3

Results: 16

Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 278, doi. 10.1111/j.1399-0004.2011.01656.x

By:

Borowiec, M;
Antosik, K;
Fendler, W;
Deja, G;
Jarosz-Chobot, P;
Mysliwiec, M;
Zmyslowska, A;
Malecki, M;
Szadkowska, A;
Mlynarski, W

Publication type:

Article

Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 301, doi. 10.1111/j.1399-0004.2011.01784.x

By:

Xin, Z-T;
Ly, H

Publication type:

Article

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 298, doi. 10.1111/j.1399-0004.2011.01719.x

By:

Eggermann, T;
Spengler, S;
Begemann, M;
Binder, G;
Buiting, K;
Albrecht, B;
Spranger, S

Publication type:

Article

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 224, doi. 10.1111/j.1399-0004.2011.01689.x

By:

Ferri, L;
Guido, C;
la Marca, G;
Malvagia, S;
Cavicchi, C;
Fiumara, A;
Barone, R;
Parini, R;
Antuzzi, D;
Feliciani, C;
Zampetti, A;
Manna, R;
Giglio, S;
Della Valle, CM;
Wu, X;
Valenzano, KJ;
Benjamin, ER;
Donati, MA;
Guerrini, R;
Genuardi, M

Publication type:

Article

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 257, doi. 10.1111/j.1399-0004.2011.01637.x

By:

Yu, HE;
Hawash, K;
Picker, J;
Stoler, J;
Urion, D;
Wu, B-L;
Shen, Y

Publication type:

Article

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 289, doi. 10.1111/j.1399-0004.2011.01654.x

By:

Yariz, KO;
Walsh, T;
Akay, H;
Duman, D;
Akkaynak, AC;
King, M-C;
Tekin, M

Publication type:

Article

Parent of origin effects.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 201, doi. 10.1111/j.1399-0004.2011.01790.x

By:

Guilmatre, A;
Sharp, AJ

Publication type:

Article

Isolated and syndromic forms of congenital anosmia.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 210, doi. 10.1111/j.1399-0004.2011.01776.x

By:

Karstensen, HG;
Tommerup, N

Publication type:

Article

Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 249, doi. 10.1111/j.1399-0004.2011.01628.x

By:

Barbaro, M;
Kotajärvi, M;
Harper, P;
Floderus, Y

Publication type:

Article

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 294, doi. 10.1111/j.1399-0004.2011.01730.x

By:

Çelik, T;
Simsek, PO;
Sozen, T;
Ozyuncu, O;
Utine, GE;
Talim, B;
Yiğit, Ş;
Boduroglu, K;
Kamnasaran, D

Publication type:

Article

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 234, doi. 10.1111/j.1399-0004.2011.01701.x

By:

Pauli, S;
von Velsen, N;
Burfeind, P;
Steckel, M;
Mänz, J;
Buchholz, A;
Borozdin, W;
Kohlhase, J

Publication type:

Article

Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 272, doi. 10.1111/j.1399-0004.2011.01834.x

By:

Loke, J;
Ostrer, H

Publication type:

Article

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 265, doi. 10.1111/j.1399-0004.2010.01621.x

By:

Petit, F;
Holder-Espinasse, M;
Duban-Bedu, B;
Bouquillon, S;
Boute-Benejean, O;
Bazin, A;
Rouland, V;
Manouvrier-Hanu, S;
Delobel, B

Publication type:

Article

X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01647.x

By:

Demosthenous, P;
Voskarides, K;
Stylianou, K;
Hadjigavriel, M;
Arsali, M;
Patsias, C;
Georgaki, E;
Zirogiannis, P;
Stavrou, C;
Daphnis, E;
Pierides, A;
Deltas, C

Publication type:

Article

Reproductive behavior of individuals with increased risk of having a child with retinoblastoma.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 216, doi. 10.1111/j.1399-0004.2011.01791.x

By:

Dommering, CJ;
Garvelink, MM;
Moll, AC;
van Dijk, J;
Imhof, SM;
Meijers-Heijboer, H;
Henneman, L

Publication type:

Article

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 284, doi. 10.1111/j.1399-0004.2011.01653.x

By:

Hensen, EF;
van Duinen, N;
Jansen, JC;
Corssmit, EPM;
Tops, CMJ;
Romijn, JA;
Vriends, AHJT;
van der Mey, AGL;
Cornelisse, CJ;
Devilee, P;
Bayley, JP

Publication type:

Article