Volume 13; Issue 7

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Genetics in Medicine
Volume 13; Issue 7

Genetics in Medicine

Volume 13; Issue 7

1

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants :

Kearney, Hutton M., Thorland, Erik C., Brown, Kerry K., Quintero-Rivera, Fabiola, South, Sarah T.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 194 KB

english, 2011

2

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities :

Kearney, Hutton M., South, Sarah T., Wolff, Daynna J., Lamb, Allen, Hamosh, Ada, Rao, Kathleen W.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

3

Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

McDonald, Jamie, Bayrak-Toydemir, Pinar, Pyeritz, Reed E.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 843 KB

english, 2011

4

Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety

Kladny, Beth, Williams, Andrea, Gupta, Ashish, Gettig, Elizabeth A., Krishnamurti, Lakshmanan

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

5

The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

Herlihy, Amy S., McLachlan, Robert I., Gillam, Lynn, Cock, Megan L., Collins, Veronica, Halliday, Jane L.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 316 KB

english, 2011

6

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Forsha, Daniel, Li, Jennifer S., Smith, P. Brian, van der Ploeg, Ans T., Kishnani, Priya, Pasquali, Sara K.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 216 KB

english, 2011

7

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Mascarello, James T., Hirsch, Betsy, Kearney, Hutton M., Ketterling, Rhett P., Olson, Susan B., Quigley, Denise I., Rao, Kathleen W., Tepperberg, James H., Tsuchiya, Karen D., Wiktor, Anne E.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 276 KB

english, 2011

8

Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening

Therrell, Bradford L., Hannon, W. Harry, Bailey, Donald B., Goldman, Edward B., Monaco, Jana, Norgaard-Pedersen, Bent, Terry, Sharon F., Johnson, Alissa, Howell, R. Rodney

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 142 KB

english, 2011

9

Technical standards and guidelines for spinal muscular atrophy testing

Prior, Thomas W., Nagan, Narasimhan, Sugarman, Elaine A., Batish, Sat Dev, Braastad, Corey

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 280 KB

english, 2011

10

Gastric cancer in individuals with Li-Fraumeni syndrome

Masciari, Serena, Dewanwala, Akriti, Stoffel, Elena M., Lauwers, Gregory Y., Zheng, Hui, Achatz, Maria Isabel, Riegert-Johnson, Douglas, Foretova, Lenka, Silva, Edaise M., Digianni, Lisa, Verselis, Si

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.29 MB

english, 2011

11

Predictors and risk model development for menopausal age in fragile X premutation carriers

Spath, Marian A., Feuth, Ton B., Smits, Arie P. T., Yntema, Helger G., Braat, Didi D. M., Thomas, Chris M. G., van Kessel, Ad Geurts, Sherman, Stephanie L., Allen, Emily G.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.11 MB

english, 2011

12

College News

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

13

Optimizing Bob Guthrie's legacy—Storage and use of residual newborn screening specimens

Webster, Dianne

Journal:

Genetics in Medicine

Year:

2011

File:

PDF, 77 KB

2011

14

Storage and use of residual newborn screening blood spots: A public policy emergency

Journal:

Genetics in Medicine

Year:

2011

File:

PDF, 84 KB

2011

15

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 367 KB

english, 2011

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