Volume 88; Issue 1

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Clinical Genetics
Volume 88; Issue 1

Clinical Genetics

Volume 88; Issue 1

1

R705H mutation of MYH9 is associated with MYH9 -related disease and not only with non-syndromic deafness DFNA17

Verver, E., Pecci, A., De Rocco, D., Ryhänen, S., Barozzi, S., Kunst, H., Topsakal, V., Savoia, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 250 KB

english, 2015

2

The role of targeted BRCA1 / BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

Peixoto, A., Santos, C., Pinto, P., Pinheiro, M., Rocha, P., Pinto, C., Bizarro, S., Veiga, I., Principe, A.S., Maia, S., Castro, F., Couto, R., Gouveia, A., Teixeira, M.R.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 743 KB

english, 2015

3

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

Mantere, T., Haanpää, M., Hanenberg, H., Schleutker, J., Kallioniemi, A., Kähkönen, M., Parto, K., Avela, K., Aittomäki, K., von Koskull, H., Hartikainen, J.M., Kosma, V.-M., Laasanen, S.-L., Mannerma

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 580 KB

english, 2015

4

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations

Yu, L.-H., Liu, D., Cai, R., Shang, X., Zhang, X.-H., Ma, X.-X., Yan, S.-H., Fang, P., Zheng, C.-G., Wei, X.-F., Liu, Y.-H., Zhou, T.-B., Xu, X.-M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 679 KB

english, 2015

5

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

Dyment, D.A., Tétreault, M., Beaulieu, C.L., Hartley, T., Ferreira, P., Chardon, J.W., Marcadier, J., Sawyer, S.L., Mosca, S.J., Innes, A.M., Parboosingh, J.S., Bulman, D.E., Schwartzentruber, J., Maj

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 529 KB

english, 2015

6

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

van der Steen, S.L., Diderich, K.E.M., Riedijk, S.R., Verhagen-Visser, J., Govaerts, L.C.P., Joosten, M., Knapen, M.F.C.M., Van Opstal, D., Srebniak, M.I., Tibben, A., Galjaard, R.J.H.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

7

Cornelia de Lange syndrome

Boyle, M.I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A.-M., Tümer, Z.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 516 KB

english, 2015

8

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH 4 responsiveness and evidence of a founder effect

Vela-Amieva, M., Abreu-González, M., González-del Angel, A., Ibarra-González, I., Fernández-Lainez, C., Barrientos-Ríos, R., Monroy-Santoyo, S., Guillén-López, S., Alcántara-Ortigoza, M.A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 516 KB

english, 2015

9

Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults

Schneider, M., Chandler, K., Tischkowitz, M., Meyer, S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

10

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Srour, M., Hamdan, F. F., Gan-Or, Z., Labuda, D., Nassif, C., Oskoui, M., Gana-Weisz, M., Orr-Urtreger, A., Rouleau, G.A., Michaud, J.L.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 759 KB

english, 2015

11

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., Clark, G. R., Brown, M. A., Zankl, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 411 KB

english, 2015

12

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population

Anderson, S.L., Jalas, C., Fedick, A., Reid, K.F., Carpenter, T.O., Chirnomas, D., Treff, N.R., Ekstein, J., Rubin, B.Y.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 630 KB

english, 2015

13

Response to Dylan Mordaunt and Alisha McLauchlan

Boyle, M. I., Tümer, Z.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 90 KB

english, 2015

14

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome

Seo, S. H., Hwang, S. M., Ko, J. M., Ko, J. S., Hyun, Y. J., Cho, S. I., Park, H., Kim, S. Y., Seong, M.-W., Park, S. S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 305 KB

english, 2015

15

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

Zaki, M. S., Selim, L., Mansour, L., Mahmoud, I. G., Fenstermaker, A. G., Gabriel, S. B., Gleeson, J. G.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 320 KB

english, 2015

16

HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity

Mordaunt, D. A., McLauchlan, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

17

CRISPR screen: a high-throughput approach for cancer genetic research

Lu, Xiao-Jie, Xiang, Yuan-Yuan, Li, Xue-Jing

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 257 KB

english, 2015

18

An assessment of Canadian systems for triaging referred out genetic testing

Christian, S., Blumenschein, P., Lilley, M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 112 KB

english, 2015