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

Results: 19

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
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
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
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
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
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
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
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
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
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
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
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
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
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