Volume 79; Issue 2

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Clinical Genetics
Volume 79; Issue 2

Clinical Genetics

Volume 79; Issue 2

1

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

J Wincent, B-M Anderlid, M Lagerberg, M Nordenskjöld, J Schoumans

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 668 KB

english, 2011

2

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders

DK Bourque, MS Peñaherrera, RKC Yuen, MI Van Allen, DE McFadden, WP Robinson

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 669 KB

english, 2011

3

A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)

P Rump, RC Niessen, KT Verbruggen, OF Brouwer, M de Raad, R Hordijk

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 700 KB

english, 2011

4

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

KF Schilter, A Schneider, T Bardakjian, J-F Soucy, RC Tyler, LM Reis, EV Semina

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 717 KB

english, 2011

5

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

V Desai, A Donsante, KJ Swoboda, M Martensen, J Thompson, SG Kaler

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 601 KB

english, 2011

6

Understanding the population structure of North American patients with cystic fibrosis

W Li, L Sun, M Corey, F Zou, S Lee, AL Cojocaru, C Taylor, SM Blackman, A Stephenson, AJ Sandford, R Dorfman, ML Drumm, GR Cutting, MR Knowles, P Durie, FA Wright, LJ Strug

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 884 KB

english, 2011

7

Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family

FGA Meneses, B Schnabel, IDCG Silva, FL Alberto, L Toma, HB Nader, CC Lopes

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 592 KB

english, 2011

8

Wolfram syndrome and WFS1 gene

L Rigoli, F Lombardo, C Di Bella

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 673 KB

english, 2011

9

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

S Bohlega, AM Alazami, E Cupler, H Al-Hindi, E Ibrahim, FS Alkuraya

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 718 KB

english, 2011

10

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan

K Nagao, K Fujii, K Saito, K Sugita, M Endo, T Motojima, H Hatsuse, T Miyashita

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 585 KB

english, 2011

11

Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results

AR Bradbury, L Patrick-Miller, D Fetzer, B Egleston, SA Cummings, A Forman, L Bealin, C Peterson, M Corbman, J O'Connell, MB Daly

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 588 KB

english, 2011

12

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

AJ Dawson, J Chernos, J McGowan-Jordan, J Lavoie, S Shetty, M Steinraths, J-C Wang, J Xu

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 522 KB

english, 2011

13

Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 541 KB

english, 2011

14

Insight into the genetic cause underlying Kabuki syndrome

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 508 KB

english, 2011

15

Large structural polymorphisms predispose genomic sequences to disease-causing rearrangements

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 448 KB

english, 2011