'Full mutation' diaporamas de présentation

Two Core Objectives :

Defining the syndrome specific profiles and trajectories of children with differing developmental disabilities: the case of fragile X syndrome & autism Professor & Director, McGill's Child Laboratory for Research and Education in Developmental Disorders Kim Cornish Ph.D. Two Core Objectives :

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Fragile X: A Family of Disorders

Fragile X: A Family of Disorders. Dianne M. McBrien, MD Clinical Associate Professor of Pediatrics University of Iowa Hospitals and Clinics. Sequence of bases codes for proteins Proteins then facilitate or inhibit various reactions related to physiology

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DEMYSTIFYING MEDICINE FRAGILE X SYNDROME & RELATED DISORDERS March 31, 2009 Walter E. Kaufmann

DEMYSTIFYING MEDICINE FRAGILE X SYNDROME & RELATED DISORDERS March 31, 2009 Walter E. Kaufmann. One Gene ( FMR1 ): Three (or More) Disorders. M: 1:800, F: 1:250. M: 1:4000, F: 1:6000. ID, ASD, LD?. Hagerman et al. Pediatrics 123:378-90, 2009. One Gene ( FMR1 ):

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Fragile X and the mystery of the ghost genotype

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The fragile X syndrome : What about the deficit in the pragmatic component of language ?

The fragile X syndrome : What about the deficit in the pragmatic component of language ?. Annick Comblain, Dr Speech and Language Pathology Mouna Elbouz, MS Speech and Language Pathology ??? University of Liege, Faculty of Psychology Department : Cognitive Sciences

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Louise Stanley

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Diane Cairns Liverpool

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Fragile X Syndrome

SP5 -Validation of Methylation Specific PCR for the detection for large FMR-1 expansion mutations in males and females Stacey Mutch East Midlands Regional Molecular Genetics Service. Fragile X Syndrome. Caused by inactivation of FMR-1 gene and a corresponding reduction of FMRP

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Fragile X Syndrome (Martin-Bell Syndrome)

Fragile X Syndrome (Martin-Bell Syndrome). Amber Boone. www.fragilex.org.uk/ page6.htm. Characteristics. Mild to Moderate Mental Retardation Long, narrow face Large, protuberant ears Macroorchidism (enlarged testicles). Background . X-linked disease Mutation is located at Xq27.3

1.42k views • 15 slides

Fragile X Syndrome - Clinical

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Fragile X Syndrome - Clinical

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Understanding Fragile X

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