The Year in Human and Medical Genetics 2009

1. Auflage 2009
ISBN: 978-1-57331-731-3
Verlag: Wiley

Buch, Englisch, 352 Seiten, Format (B × H): 175 mm x 249 mm, Gewicht: 386 g

This is the inaugural volume for a new annual review serving the medical genetics community. This annual volume will feature in-depth scholarly reviews of the most timely and important topics and issues affecting this field.

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Autoren/Hrsg.

Smith, Moyra

Inhaltsverzeichnis

Preface: Moyra Smith.

1. Highlights in Human Genetics in 2007–2008: Moyra Smith.

2. On the Molecular Etiology of Cornelia de Lange Syndrome: Dale Dorsett and Ian D. Krantz.

3. Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans: Philip F. Giampietro, Sally L. Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Amaka C. Offiah, Alberto S. Cornier, Benjamin A. Alman, Robert D. Blank, Cathleen L. Raggio, Ingrid Glurich, and Peter D. Turnpenny.

4. Chimerism in Black Southern African Patients with True Hermaphroditism: 46,XX/47XY,+21 and 46,XX/46,XY: M. Ramsay, W. Pfaffenzeller, E. Kotze, L. Bhengu, F. Essop, and T. de Ravel.

5. Combined Tarsal and Carpal Tunnel Syndrome in Mucolipidosis Type III: A Case Study and Review: Izelle Smuts, Denise Potgieter, and Francois Hendrikus van der Westhuizen.

6. Clinical Characteristics of an Afrikaner Founder Population Schizophrenia Genetic Sample: Johannes Lodewikus Roos, Herman Walter Pretorius, and Maria Karayiorgou.

7. Nuclear and Mitochondrial Genome Defects in Autisms: Moyra Smith, M. Anne Spence, and Pamela Flodman.

8. Genetic Calcium Signaling Abnormalities in the CNS: Seizures, Migraine, and Autism: J. Jay Gargus.

9. Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies: Lisa Edelmann and Kurt Hirschhorn.

Index of Contributors.

Über Autor(innen)

Moyra Smith- Irvine, CA - is a professor of pediatrics and human genetics at the University of California, Irvine, School of Medicine.