| April/May 2007 Issue: New Testing for Duchenne Muscular Dystrophy (DMD) |
| Learn about the clinical presentation and new genetic testing available for DMD. |
| Read |
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| March 2007 Issue: Metachromatic Leukodystrophy |
| Learn about the clinical presentation and genetic testing for metachromatic leukodystrophy. |
| Read |
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| February 2007 Issue: Mowat-Wilson Syndrome |
| Learn about the clinical presentation, diagnosis, and testing for Mowat-Wilson syndrome. |
| Read |
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| January 2007 Issue: Mucopolysaccharidosis Type I |
| Learn about the clinical presentation, testing, and treatment for MPS I. |
| Read |
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| December 2006 Issue: Beckwith-Wiedemann |
| Learn about the clinical presentation, medical management, and genetic testing for Beckwith-Wiedemann syndrome. |
| Read |
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| November 2006 Issue: Marfan Syndrome |
| Learn about the clinical presentation, genetic testing, treatment, and recurrence risks for Marfan syndrome. |
| Read |
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| October 2006 Issue: Myotonic Dystrophy |
| Learn about the clinical presentation, inheritance, and genetic testing for myotonic dystrophy. |
| Read |
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| September 2006 Issue: MCADD |
| Learn about the clinical presentation, recurrence risk, and genetic testing for Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency. |
| Read |
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| August 2006 Issue: Galactosemia |
| Learn about the importance of correlating molecular and biochemical testing for accurate diagnosis, as well as a new expanded GALT gene mutation panel available only at Emory Genetics Laboratory. |
| Read |
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| July 2006 Issue: array Comparative Genomic Hybridization (aCGH) |
| Learn about aCGH analysis and when to order this testing on your patients. |
| Read |
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| June 2006 Issue: Female Infertility |
| Learn about genetic causes of female and male factor infertility, and specifically risks for FMR1 premutation carriers. |
| Read |
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| May 2006 Issue: Late-Onset Pompe Disease (Acid Maltase Deficiency or GSD II) |
| Learn about the presentation, diagnosis, management and treatment for late-onset Pompe disease. |
| Read |
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| April 2006 Issue: Phelan-McDermid Syndrome |
| Learn about the clinical presentation, etiology, and testing for 22q13 deletion/Phelan-McDermid syndrome. |
| Read |
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| March 2006 Issue: Advanced Paternal Age |
| Learn about the risks associated with genetic abnormalities and advanced paternal age. |
| Read |
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| February 2006 Issue: Neurofibromatosis Type I |
| Learn about the clinical presentation, diagnosis, testing, and management for NFI. |
| Read |
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| January 2006 Issue: Prader-Willi Syndrome |
| Learn about the etiology and testing for Prader-Willi syndrome. |
| Read |
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| December 2005 Issue: Niemann-Pick Disease, Type C |
| Learn about the clinical presentation, natural history, and genetic testing for Niemann-Pick Disease, Type C |
| Read |
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| November 2005 Issue: Duchenne Muscular Dystrophy |
| Learn about the presentation, diagnosis and Emory Infant Screening Program for Duchenne Muscular Dystrophy (DMD). |
| Read |
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| October 2005 Issue: CAH |
| Learn about the presentation, prenatal and carrier testing, and management of congenital adrenal hyperplasia (CAH). |
| Read |
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| September 2005 Issue: Gaucher Disease |
| Learn about the clinical presentation, management, treatment, and biochemical marker screening for Gaucher disease. |
| Read |
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| August 2005 Issue: X-linked Adrenal Leukodystrophy |
| Learn about the inheritance, range of clinical phenotypes, and treatment for X-linked adrenoleukodystrophy. |
| Read |
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| July 2005 Issue: Familial Adenomatous Polyposis |
| Learn about the clinical presentation and genetic testing for FAP. |
| Read |
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| June 2005 Issue: I-cell Disease |
| Learn about the clinical presentation and genetic testing for I-cell disease. |
| Read |
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| May 2005 Issue: Hemochromatosis |
| Learn about the clinical presentation, management, and genetic testing for hemochromatosis. |
| Read |
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| April 2005 Issue: Carrier Testing in the Ashkenazi Jewish Population |
| Learn about the complexities of carrier testing for recessive diseases for couples who are Ashkenazi Jewish. |
| Read |
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| March 2005 Issue: MMA |
| Learn about the clinical presentation, causes, and testing for methylmalonic aciduria (MMA). |
| Read |
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| February 2005 Issue: Fabry Disease in Females |
| Learn about the clinical presentation, genetic testing, and enzyme replacement therapy for Fabry disease in males and females. |
| Read |
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| January 2005 Issue: Autism |
| Learn about the clinical presentation and genetic causes of autism. |
| Read |
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| December 2004 Issue: Turner Syndrome |
| Learn about a non-classical presentation of Turner syndrome, a review of the various karyotypes that result in Turner syndrome, and the clinical problems that can be seen in this disorder. |
| Read |
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| November 2004 |
| Emory Genetics is moving into a new building this month. For this reason, there will not be a November 2004 Issue of our newsletter. Please see the attached PDF for our move announcement and new contact information. |
| Read |
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| October 2004 Issue: Prenatal Microdeletion Panel |
| Learn about the latest technology used to detect microdeletion syndromes prenatally. |
| Read |
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| September 2004 Issue: Trisomy Recurrence |
| Learn about data regarding and hypotheses to explain trisomy recurrence. |
| Read |
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| August 2004 Issue: MSUD |
| Learn about the clinical presentation, recommended intervention, and genetic testing for maple syrup urine disease (MSUD). |
| Read |
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| July 2004 Issue: Klinefelter Syndrome |
| Learn about the clinical presentation, recommended intervention, and genetic testing for Klinefelter syndrome. |
| Read |
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| June 2004 Issue: Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
| Learn about the features, genetic testing, and risks for cancer in HNPCC. |
| Read |
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| May 2004 Issue: Fragile X Syndrome |
| Learn about the clinical presentation, genetic testing, prenatal diagnosis, and research studies, on Fragile X syndrome. |
| Read |
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| April 2004 Issue: Pompe Disease |
| Learn about the clinical presentation, genetic testing, and available treatment for Pompe Disease. |
| Read |
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| March 2004 Issue: Down Syndrome |
| Learn about the clinical presentation, recurrence risks, and what you need to know for the newborn diagnosed with Down syndrome. |
| Read |
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| February 2004 Issue: Rett Syndrome |
| Learn about the clinical presentation, recurrence risk, and genetic testing for Rett syndrome. |
| Read |
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| January 2004 Issue: Prader-Willi Syndrome |
| Learn about the clinical presentation, recurrence risk, and genetic testing for Prader-Willi syndrome. |
| Read |
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| December 2003 Issue: Quadruple Marker Screening |
| Learn about second trimester quadruple marker screening for open neural tube defects, Down syndrome, and trisomy 18. |
| Read |
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| November 2003 Issue: MCAD Deficiency |
| Learn about the clinical presentation, recurrence risk, and genetic testing for Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency. |
| Read |
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| October 2003 Issue: BRCA1 and BRCA2 |
| Learn about risks associated with the BRCA1 and 2 genes and when to refer for cancer genetic counseling. |
| Read |
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| September 2003 Issue: Duchenne Muscular Dystrophy |
| Learn about the clinical presentation, recurrence risk, and prenatal diagnosis for Duchenne muscular dystrophy. |
| Read |
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| August 2003 Issue: MPS I |
| Learn about the clinical presentation, genetic testing, and enzyme replacement therapy for mucopolysaccharidosis type I. |
| Read |
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| July 2003 Issue: Reciprocal Translocations |
| Learn what a reciprocal translocation is and risks for reciprocal translocation carriers. |
| Read |
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| June 2003 Issue: Biotinidase Deficiency |
| Learn about the diagnosis, treatment, and newborn screening for biotinidase deficiency. |
| Read |
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| May 2003 Issue: Fabry Disease |
| Learn about the clinical presentation, genetic testing, and enzyme replacement therapy for Fabry disease. |
| Read |
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| April 2003 Issue: The Genetics of Deafness |
| Learn what proportion of prelingual deafness is genetic, and when you should be testing for connexin 26. |
| Read |
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| March 2003 Issue: POC Chromosome Studies |
| Learn the frequency and risk for recurrence for chromosome abnormalities in spontaneous abortions, as well as information on POC chromosome studies. |
| Read |
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| February 2003 Issue: Subtelomere FISH Screening |
| Learn how subtelomere FISH screening is done and when you should order this test. |
| Read |
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| January 2003 Issue: Maternal PKU |
| Learn about the risks associated with and the management of maternal PKU. |
| Read |
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| December 2002 Issue: Tay Sachs |
| Learn about the difference between biochemical and molecular testing for Tay Sachs disease, as well as who to test. |
| Read |
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| November 2002 Issue: Breast Cancer |
| Learn how to classify a cancer family history into sporadic, familial, or hereditary, as well as information about the BRCA1/2 genes. |
| Read |
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| October 2002 Issue: Noonan Syndrome |
| Learn about the clinical presentation and testing for Noonan syndrome. |
| Read |
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| September 2002 Issue: Galactosemia |
| Learn about how to diagnose and test for galactosemia, as well as information on carrier testing and prenatal diagnosis. |
| Read |
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| August 2002 Issue: 22q11 Deletion Syndrome |
| Learn the variability in presentation of the 22q11 Deletion syndrome, as well as the genetic mechanism and when to test. |
| Read |
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| July 2002 Issue: Cystic Fibrosis |
| Learn about molecular testing for CF and how to calculate recurrence risks. |
| Read |
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| June 2002 Issue: Gaucher Disease |
| Learn about the most prevalent genetic disorder in the Ashkenazi Jewish population, how it presents, and the availability of enzyme replacement therapy. |
| Read |
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