Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 1

Results: 18

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 83, doi. 10.1111/j.1399-0004.2012.01856.x

By:

Delvecchio, M;
Ludovico, O;
Bellacchio, E;
Stallone, R;
Palladino, T;
Mastroianno, S;
Zelante, L;
Sacco, M;
Trischitta, V;
Carella, M

Publication type:

Article

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 92, doi. 10.1111/j.1399-0004.2012.01880.x

By:

Hoffer, JL;
Fryssira, H;
Konstantinidou, AE;
Ropers, H−H;
Tzschach, A

Publication type:

Article

Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 88, doi. 10.1111/j.1399-0004.2012.01855.x

By:

Møller, P;
Mæhle, L;
Vabø, A;
Clark, N;
Sun, P;
Narod, SA

Publication type:

Article

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 2, doi. 10.1111/cge.12028

By:

Ku, CS;
Cooper, DN;
Iacopetta, B;
Roukos, DH

Publication type:

Article

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 53, doi. 10.1111/j.1399-0004.2012.01850.x

By:

Shoukier, M;
Klein, N;
Auber, B;
Wickert, J;
Schröder, J;
Zoll, B;
Burfeind, P;
Bartels, I;
Alsat, EA;
Lingen, M;
Grzmil, P;
Schulze, S;
Keyser, J;
Weise, D;
Borchers, M;
Hobbiebrunken, E;
Röbl, M;
Gärtner, J;
Brockmann, K;
Zirn, B

Publication type:

Article

High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 66, doi. 10.1111/j.1399-0004.2012.01846.x

By:

Bilir, B;
Yapici, Z;
Yalcinkaya, C;
Baris, I;
Carvalho, CMB;
Bartnik, M;
Ozes, B;
Eraksoy, M;
Lupski, JR;
Battaloglu, E

Publication type:

Article

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 96, doi. 10.1111/j.1399-0004.2012.01883.x

By:

Taşdemir, S;
Güzel‐Ozantürk, A;
Marshall, JD;
Collin, GB;
Özgül, RK;
Narin, N;
Dündar, M;
Naggert, JK

Publication type:

Article

Mutations in ATP1A3 cause alternating hemiplegia of childhood.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 32, doi. 10.1111/cge.12031

By:

Aminkeng, F

Publication type:

Article

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 73, doi. 10.1111/j.1399-0004.2012.01857.x

By:

Steinbusch, CVM;
van Roozendaal, KEP;
Tserpelis, D;
Smeets, EEJ;
Kranenburg‐de Koning, TJ;
de Waal, KH;
Zweier, C;
Rauch, A;
Hennekam, RCM;
Blok, MJ;
Schrander‐Stumpel, CTRM

Publication type:

Article

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 78, doi. 10.1111/j.1399-0004.2012.01853.x

By:

Yang, T;
Li, X;
Huang, Q;
Li, L;
Chai, Y;
Sun, L;
Wang, X;
Zhu, Y;
Wang, Z;
Huang, Z;
Li, Y;
Wu, H

Publication type:

Article

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 44, doi. 10.1111/j.1399-0004.2011.01833.x

By:

Christensen, JH;
Kvistgaard, H;
Knudsen, J;
Shaikh, G;
Tolmie, J;
Cooke, S;
Pedersen, S;
Corydon, TJ;
Gregersen, N;
Rittig, S

Publication type:

Article

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 35, doi. 10.1111/j.1399-0004.2012.01879.x

By:

Arboleda, VA;
Lee, H;
Sánchez, FJ;
Délot, EC;
Sandberg, DE;
Grody, WW;
Nelson, SF;
Vilain, E

Publication type:

Article

HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 31, doi. 10.1111/cge.12030

By:

Aminkeng, F

Publication type:

Article

Special new feature in Clinical Genetics.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 1, doi. 10.1111/cge.12067

By:

Hayden, Michael R.

Publication type:

Article

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 7, doi. 10.1111/j.1399-0004.2012.01892.x

By:

Bacigaluppi, S;
Retta, SF;
Pileggi, S;
Fontanella, M;
Goitre, L;
Tassi, L;
La Camera, A;
Citterio, A;
Patrosso, MC;
Tredici, G;
Penco, S

Publication type:

Article

The developmental genetics of Hirschsprung's disease The developmental genetics of Hirschsprung's disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 15, doi. 10.1111/cge.12032

By:

Bergeron, K‐F;
Silversides, DW;
Pilon, N

Publication type:

Article

Novel NMNAT1 mutations causing Leber congenital amaurosis identified.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 33, doi. 10.1111/cge.12043

By:

Kaur, A

Publication type:

Article

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 23, doi. 10.1111/cge.12004

By:

Reiff, M;
Ross, K;
Mulchandani, S;
Propert, KJ;
Pyeritz, RE;
Spinner, NB;
Bernhardt, BA

Publication type:

Article