Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 4

Results: 19

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 394, doi. 10.1111/cge.12088

By:

Caglayan, AO;
Per, H;
Akgumus, G;
Gumus, H;
Baranoski, J;
Canpolat, M;
Calik, M;
Yikilmaz, A;
Bilguvar, K;
Kumandas, S;
Gunel, M

Publication type:

Article

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 303, doi. 10.1111/cge.12173

By:

Connell, FC;
Gordon, K;
Brice, G;
Keeley, V;
Jeffery, S;
Mortimer, PS;
Mansour, S;
Ostergaard, P

Publication type:

Article

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 378, doi. 10.1111/cge.12158

By:

Brice, G;
Ostergaard, P;
Jeffery, S;
Gordon, K;
Mortimer, PS;
Mansour, S

Publication type:

Article

A centralized approach to out-of-province genetic testing leads to cost savings: the Alberta experience.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 373, doi. 10.1111/cge.12077

By:

Lilley, M;
Christian, S;
Blumenschein, P;
Chan, S;
Somerville, M

Publication type:

Article

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 368, doi. 10.1111/cge.12075

By:

Sheridan, MB;
Bytyci Telegrafi, A;
Stinnett, V;
Umeh, CC;
Mari, Z;
Dawson, TM;
Bodurtha, J;
Batista, DAS

Publication type:

Article

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 350, doi. 10.1111/cge.12079

By:

Dogu, O;
Krebs, CE;
Kaleagasi, H;
Demirtas, Z;
Oksuz, N;
Walker, RH;
Paisán‐Ruiz, C

Publication type:

Article

Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 340, doi. 10.1111/cge.12238

By:

Lee, JW

Publication type:

Article

New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 382, doi. 10.1111/cge.12070

By:

Loesch, DZ;
Tassone, F;
Lo, J;
Slater, HR;
Hills, LV;
Bui, MQ;
Silburn, PA;
Mellick, GD

Publication type:

Article

Molecular cytogenetics: recent developments and applications in cancer.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 315, doi. 10.1111/cge.12229

By:

Das, K;
Tan, P

Publication type:

Article

Perceptions of genetic counseling services in direct-to-consumer personal genomic testing.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 335, doi. 10.1111/cge.12166

By:

Darst, BF;
Madlensky, L;
Schork, NJ;
Topol, EJ;
Bloss, CS

Publication type:

Article

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/ DFNB4 probands and a report of nine novel mutations.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 388, doi. 10.1111/cge.12074

By:

Rendtorff, ND;
Schrijver, I;
Lodahl, M;
Rodriguez‐Paris, J;
Johnsen, T;
Hansén, EC;
Nickelsen, LAA;
Tümer, Z;
Fagerheim, T;
Wetke, R;
Tranebjærg, L

Publication type:

Article

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 326, doi. 10.1111/cge.12143

By:

Jacob, KJ;
Robinson, WP;
Lefebvre, L

Publication type:

Article

Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 341, doi. 10.1111/cge.12239

By:

Kaur, A

Publication type:

Article

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 392, doi. 10.1111/cge.12073

By:

Hogue, J;
Lee, C;
Jelin, A;
Strecker, MN;
Cox, VA;
Slavotinek, AM

Publication type:

Article

Cardiac characterization of 16 patients with large NF1 gene deletions.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 344, doi. 10.1111/cge.12072

By:

Nguyen, R;
Mir, TS;
Kluwe, L;
Jett, K;
Kentsch, M;
Mueller, G;
Kehrer‐Sawatzki, H;
Friedman, JM;
Mautner, V‐F

Publication type:

Article

The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 386, doi. 10.1111/cge.12084

By:

González‐del Rincón, M de L;
Monroy Jaramillo, N;
Suárez Martínez, AI;
Yescas Gómez, P;
Boll Woehrlen, MC;
López López, M;
Alonso Vilatela, ME

Publication type:

Article

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 362, doi. 10.1111/cge.12069

By:

Digilio, MC;
Bernardini, L;
Gagliardi, MG;
Versacci, P;
Baban, A;
Capolino, R;
Dentici, ML;
Roberti, MC;
Angioni, A;
Novelli, A;
Marino, B;
Dallapiccola, B

Publication type:

Article

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 342, doi. 10.1111/cge.12240

By:

Lee, JW

Publication type:

Article

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 356, doi. 10.1111/cge.12076

By:

Irun, P;
Mallén, M;
Dominguez, C;
Rodriguez‐Sureda, V;
Alvarez‐Sala, LA;
Arslan, N;
Bermejo, N;
Guerrero, C;
Perez de Soto, I;
Villalón, L;
Giraldo, P;
Pocovi, M

Publication type:

Article