Volume 87; Issue 3

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Clinical Genetics
Volume 87; Issue 3

Clinical Genetics

Volume 87; Issue 3

1

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 690 KB

english, 2015

2

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

Xiong, H., Tan, D., Wang, S., Song, S., Yang, H., Gao, K., Liu, A., Jiao, H., Mao, B., Ding, J., Chang, X., Wang, J., Wu, Y., Yuan, Y., Jiang, Y., Zhang, F., Wu, H., Wu, X.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 768 KB

english, 2015

3

Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing

Boeldt, D.L., Schork, N.J., Topol, E.J., Bloss, C.S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 564 KB

english, 2015

4

Ataxia telangiectasia: more variation at clinical and cellular levels

Taylor, A.M.R., Lam, Z., Last, J.I., Byrd, P.J.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

5

Phosphoserine phosphatase ( PSPH ) gene mutation in an intellectual disability family from Pakistan

Vincent, J.B., Jamil, T., Rafiq, M.A., Anwar, Z., Ayaz, M., Hameed, A., Nasr, T., Naeem, F., Khattak, N.A., Carter, M., Ahmed, I., John, P., Wiame, E., Andrade, D.M., Schaftingen, E.V., Mir, A., Ayub,

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 872 KB

english, 2015

6

Interactive e-counselling for genetics pre-test decisions: where are we now?

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 535 KB

english, 2015

7

Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact

Inglis, A., Koehn, D., McGillivray, B., Stewart, S.E., Austin, J.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 566 KB

english, 2015

8

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Banka, S., Lederer, D., Benoit, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B., McKee, S., Lloyd, I.C., Shears, D., Stewart, H., White, S.M., Savarirayan, R., Mancini, G.M.S., Beysen, D., Cohn, R

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 699 KB

english, 2015

9

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

Córdoba, M., Rodriguez, S., González Morón, D., Medina, N., Kauffman, M.A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 555 KB

english, 2015

10

The revised ghent nosology; reclassifying isolated ectopia lentis

Chandra, A., Patel, D., Aragon-Martin, J.A., Pinard, A., Collod-Béroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A.H., Arno, G.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 574 KB

english, 2015

11

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)

Mäkitie, O., Geiberger, S., Horemuzova, E., Hagenäs, L., Moström, E., Nordenskjöld, M., Grigelioniene, G., Nordgren, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 888 KB

english, 2015

12

Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism

Hasegawa, K., Ohno, S., Kimura, H., Itoh, H., Makiyama, T., Yoshida, Y., Horie, M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 3.82 MB

english, 2015

13

Platelets are not all gray in GFI1B disease

Stevenson, W.S., Morel-Kopp, M.-C., Ward, C.M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 470 KB

english, 2015

14

A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease

Kurashige, M., Hanaoka, K., Imamura, M., Udagawa, T., Kawaguchi, Y., Hasegawa, T., Hosoya, T., Yokoo, T., Maeda, S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 1.16 MB

english, 2015

15

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration

Morales-Briceño, H., Chacón-Camacho, O.F., Pérez-González, E.A., Arteaga-Vázquez, J., Rodríguez-Violante, M., Cervantes-Arriaga, A., Pérez-Rodríguez, L., Zenteno, J.C., Mutchinick, O.M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 876 KB

english, 2015

16

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update

Szwiec, M., Jakubowska, A., Górski, B., Huzarski, T., Tomiczek-Szwiec, J., Gronwald, J., Dębniak, T., Byrski, T., Kluźniak, W., Wokołorczyk, D., Birkenfeld, B., Akbari, M.R., Narod, S.A., Lubiński, J.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 497 KB

english, 2015

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