Volume 13; Issue 5

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Genetics in Medicine
Volume 13; Issue 5

Genetics in Medicine

Volume 13; Issue 5

1

von Willebrand disease

James, Paula D, Goodeve, Anne C

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 409 KB

english, 2011

2

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Bartnik, Magdalena, Derwińska, Katarzyna, Gos, Monika, Obersztyn, Ewa, Kołodziejska, Katarzyna E, Erez, Ayelet, Szpecht-Potocka, Agnieszka, Fang, Ping, Terczyńska, Iwona, Mierzewska, Hanna, Lohr, Naom

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 947 KB

english, 2011

3

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis

Walsh, Kyle M, Bracken, Michael B

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 752 KB

english, 2011

4

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Wang, Raymond Y, Bodamer, Olaf A, Watson, Michael S, Wilcox, William R

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.39 MB

english, 2011

5

Changes to perceptions of the pros and cons of genetic susceptibility testing after APOE genotyping for Alzheimer disease risk

Christensen, Kurt D, Roberts, J Scott, Uhlmann, Wendy R, Green, Robert C

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 196 KB

english, 2011

6

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Raca, Gordana, Jackson, Craig A, Kucinskas, Laimutis, Warman, Berta, Shieh, Joseph T C, Schneider, Adele, Bardakjian, Tanya M, Schimmenti, Lisa A

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 690 KB

english, 2011

7

Medical and graduate students' attitudes toward personal genomics

Ormond, Kelly E, Hudgins, Louanne, Ladd, Jennifer M, Magnus, David M, Greely, Henry T, Cho, Mildred K

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

8

Risk and uncertainty: Shifting decision making for aneuploidy screening to the first trimester of pregnancy

Farrell, Ruth M, Dolgin, Natasha, Flocke, Susan A, Winbush, Victoria, Mercer, Mary Beth, Simon, Christian

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 273 KB

english, 2011

9

Strengthening the reporting of Genetic Risk Prediction Studies: The GRIPS statement

Janssens, A Cecile J W, Ioannidis, John P A, van Duijn, Cornelia M, Little, Julian, Khoury, Muin J

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

10

Patient reactions to personalized medicine vignettes: An experimental design

Butrick, Morgan, Roter, Debra, Kaphingst, Kimberly, Erby, Lori H, Haywood, Carlton, Beach, Mary Catherine, Levy, Howard P

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 264 KB

english, 2011

11

How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling

Taylor, David P, Stoddard, Gregory J, Burt, Randall W, Williams, Marc S, Mitchell, Joyce A, Haug, Peter J, Cannon-Albright, Lisa A

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

12

How does a simple enquiry compare to a detailed family history questionnaire to identify coronary heart disease or diabetic familial risk?

Wijdenes-Pijl, Miranda, Henneman, Lidewij, Cross-Bardell, Laura, Timmermans, Danielle R M, Qureshi, Nadeem

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

13

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Loesch, Danuta Z, Godler, David E, Evans, Andrew, Bui, Quang M, Gehling, Freya, Kotschet, Katya E, Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 612 KB

english, 2011

14

Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings

Hietikko, Elina, Kotimäki, Jouko, Kentala, Erna, Klockars, Tuomas, Sorri, Martti, Männikkö, Minna

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.24 MB

english, 2011

15

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 769 KB

english, 2011

16

College News

Journal:

Genetics in Medicine

Year:

2011

File:

PDF, 181 KB

2011