Lavoisier S.A.S.
14 rue de Provigny
94236 Cachan cedex
FRANCE

Heures d'ouverture 08h30-12h30/13h30-17h30
Tél.: +33 (0)1 47 40 67 00
Fax: +33 (0)1 47 40 67 02


Url canonique : www.lavoisier.fr/livre/medecine/review-questions-of-clinical-molecular-genetics/descriptif_3788118
Url courte ou permalien : www.lavoisier.fr/livre/notice.asp?ouvrage=3788118

0 article 

 Frais de port 0,01€*

Exclusivité web : à partir de 35 euros d’achat, frais de port à 1 centime pour les expéditions vers la France métropolitaine, la Suisse et l’UE avec Colissimo ou GLS

Self-assessment Questions for Clinical Molecular Genetics

Langue : Anglais

Auteur :

Couverture de l’ouvrage Self-assessment Questions for Clinical Molecular Genetics

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by theAmerican College of Medical Genetics and Genomics (ACMG) and theAmerican Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge.

1. ACMGG Guidelines, CAP Checklists2. Connective Tissue and Skeletal Diseases3. Cystic Fibrosis4. General Molecular Genetic Knowledge5. Genetic Counseling6. Hematological Disorders7. Hereditary Cancer Syndromes8. Lysosomal Storage Disorders9. Metabolic disorders10. Molecular Genetics in Malignancies11. Molecular Genetic Nomenclatures12. Neuromuscular Disorders13. Other Common Genetic syndromes14. Pharmacogenetics15. Trinucleotide Repeat Expansion Disorders

Clinical geneticists in training (clinical molecular genetic follows, clinical cytogenetic fellows, clinical biochemistry fellows); Medical genetic residents/fellows, Pathology residents/fellows (molecular pathology, laboratory medicine), Genetic counselor students.

Dr. Haiying Meng earned her MD from West China University of Medical Sciences, specializing in Forensic Medicine, and her PhD in Forensic Genetics from Sichaun University, China. She completed a postdoctoral fellowship at Yale Child Health Research Center and has held several positions at Cincinnati Children’s Hospital Medical Center and Wright State University in Ohio. Dr. Meng is currently Medical Director of Cytogenetics and Molecular Biology at Baystate Health Center.

Dr. Meng has published over 50 abstracts and peer-reviewed journal articles and currently serves on the editorial boards of both Journal of Biochemistry and Molecular Biology in the Post Genomic Era and ISRN (International Scholarly Research Network) Genetics. In addition to delivering numerous lectures and national presentations, Dr. Meng has written over 1,000 review questions to help genetic counselors, medical genetic residents/fellows, molecular pathologists, and medical students study for the board exam, which is the basis of this project.

  • Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics
  • Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam
  • Assists trainees on how to follow guidelines and put them in practice

Date de parution :

Ouvrage de 816 p.

21.4x27.6 cm

Disponible chez l'éditeur (délai d'approvisionnement : 14 jours).

98,24 €

Ajouter au panier

Thème de Self-assessment Questions for Clinical Molecular Genetics :

Mots-clés :

9hnRNA); Abnormal gait; Absence of the vas deferens; Acquired; Acquired pathogenic variants; Adult-onset; Allele; Allelic heterogeneity; American College of Medical Genetics and Genomics (ACMG); Amniocentesis; Amplification; And next generation sequencing (NGS); And quality improvement; Anemia; Anticipation; Ashkenazi Jewish; Autosomal dominant; Autosomal recessive; BRAF; Bleeding; CBAVD; CCR5-tropic HIV-1; CDNA; CFTR; CYP2B6; CYP2C19; CYP2C9; CYP2D6; CYP3A; Capillary electrophoresis; Carrier frequency; Carrier screen; Caucasian; Cell cycle; Centers for Disease Control and Prevention (CDC); CfDNA; Cherry red spots; Chorionic villus sampling (CVS); Clinical Laboratory Improvement Amendments of 1988 (CLIA’88); Clonality; Clotting factor; Coagulation factor; Codon; Coefficient of inbreeding; Coefficient of relationship; College of American Pathologists (CAP); Common disorders; Compensation; Competency test; Constitutional; Craniosynostosis; Crumpled paper; Cystic fibrosis; DNA (gDNA; DPYD; De novo; Deficiency; Deformation; Deletion; Disruption; Dominant negative; Duplication; Dynamic mutation; Epistasis; Exon; False negative; False positive; Favorable risk; First-trimester screen; Formalin-fixed; Founder effect; Frameshift; Full mutation; Gain of function; Gaucher cells; Gene; Genetic counseling; Genetic counselor; Genetic distance; Genetic heterogeneity; Genotype; Germline mosaicism; Gray zone allele; HLA-A31:01; HLA-B15:02; HLA-B15:11; HLA-B57:01; HLA-B58:01; HPLC; Haploinsufficiency; Haplotype; Hematopoiesis; Hemoglobin; Hemoglobinopathy; Hepatosplenomegaly; Hereditary cancer predisposition syndrome; Heterozygote advantage; Heterozygous; High complex; Homozygous