Volume 85; Issue 3

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Clinical Genetics
Volume 85; Issue 3

Clinical Genetics

Volume 85; Issue 3

1

Molecular and clinical characterization of Angelman syndrome in Chinese patients

Bai, J.-L., Qu, Y.-J., Jin, Y.-W., Wang, H., Yang, Y.-L., Jiang, Y.-W., Yang, X.-Y., Zou, L.-P., Song, F.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 566 KB

english, 2014

2

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

Marle, N., Martinet, D., Aboura, A., Joly-Helas, G., Andrieux, J., Flori, E., Puechberty, J., Vialard, F., Sanlaville, D., Fert Ferrer, S., Bourrouillou, G., Tabet, A.C., Quilichini, B., Simon-Bouy, B

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 637 KB

english, 2014

3

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

Mur, P., Pineda, M., Romero, A., del Valle, J., Borràs, E., Canal, A., Navarro, M., Brunet, J., Rueda, D., Ramón y Cajal, T., Lázaro, C., Caldés, T., Blanco, I., Soto, J.L., Capellá, G.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 547 KB

english, 2014

4

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

Beneteau, C., Thierry, G., Blesson, S., Le Vaillant, C., Picard, V., Béné, M.C., Eveillard, M., Le Caignec, C.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 547 KB

english, 2014

5

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Anazi, S., Al-Sabban, E., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 587 KB

english, 2014

6

A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

Todorova, A., Litvinenko, I., Todorov, T., Tincheva, R., Avdjieva, D., Tincheva, S., Mitev, V.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 582 KB

english, 2014

7

Polydactyly: phenotypes, genetics and classification

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 823 KB

english, 2014

8

Cholesterol metabolism is a potential therapeutic target for Rett syndrome

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

9

Communication and technology in genetic counseling for familial cancer

Lynch, H.T., Snyder, C., Stacey, M., Olson, B., Peterson, S.K., Buxbaum, S., Shaw, T., Lynch, P.M.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 762 KB

english, 2014

10

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

Schottmann, G., Stenzel, W., Lützkendorf, S., Schuelke, M., Knierim, E.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 768 KB

english, 2014

11

BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 448 KB

english, 2014

12

Novel cilia-dependent pathway activates rapid cyst growth in autosomal dominant polycystic kidney disease

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 563 KB

english, 2014

13

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

Biancheri, Roberta, Grossi, Serena, Regis, Stefano, Rossi, Andrea, Corsolini, Fabio, Rossi, Daniela Paola, Cavalli, Pietro, Severino, Mariasavina, Filocamo, Mirella

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 622 KB

english, 2014

14

Familial clustering and genetic heterogeneity in Meniere's disease

Requena, T., Espinosa-Sanchez, J.M., Cabrera, S., Trinidad, G., Soto-Varela, A., Santos-Perez, S., Teggi, R., Perez, P., Batuecas-Caletrio, A., Fraile, J., Aran, I., Martin, E., Benitez, J., Pérez-Fer

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 614 KB

english, 2014

15

Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies

Leal, J., Ades, A.E., Wordsworth, S., Dezateux, C.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 544 KB

english, 2014

16

Autosomal dominant PIK3R1 mutations cause SHORT syndrome

Chung, B.K., Gibson, W.T.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 471 KB

english, 2014

17

Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

Rusticeanu, M., Zimmer, V., Schleithoff, L., Wonney, K., Viera, J., Zimmer, A., Hübschen, U., Bohle, R.M., Grünhage, F., Lammert, F.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 596 KB

english, 2014

18

Genome-wide androgenetic mosaicism

Johnson, J.P., Waterson, J., Schwanke, C., Schoof, J.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 662 KB

english, 2014

19

Disfluency: it is not always stuttering

Cosyns, M., van Zaalen, Y., Mortier, G., Janssens, S., Amez, A., Van Damme, J., Van Borsel, J.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 473 KB

english, 2014

20

What is a biobank? Differing definitions among biobank stakeholders

Shaw, D.M., Elger, B.S., Colledge, F.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 490 KB

english, 2014

21

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

Maruyama, H., Morino, H., Miyamoto, R., Murakami, N., Hamano, T., Kawakami, H.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 506 KB

english, 2014