ANDREW P. READ

Para todas las personas que estén implicadas en la genética médica, la Nueva Genética Clínica proporciona una guía única basada en las tecnologías postgenómicas. Tanto si el lector es un estudiante de medicina, un consejero genetico o un genetista clinico, este libro ofrece nuevas perspectivas, con descripciones de los mas modernos analisis moleculares relacionados con casos clinicos reales para mostrar de que forma la genetica actua en la clinica. Cada capitulo responde a preguntas como: ¿que podemos aprender de la historia familiar?, ¿como funcionan los genes? ¿como se puede estudiar el ADN de los pacientes para buscar mutaciones de un gen?, ¿que es la epigenetica?, ¿deberia analizarse la susceptibilidad genetica a las enfermedades comunes? y ¿que podemos hacer con una enfermedad genetica? Todos los capitulos finalizan con ejercicios de autoevaluacion, de forma que el lector pueda comprobar que domina la materia.

Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject.The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Genética Molecular Humana Andrew P. Read; Tom Strachan Esta obra realiza un estudio completo de la genética molecular humana, disciplina en rápida expansión. Está construido en torno a la explicación de la estructura, la funcion y la evolucion del genoma humano, tal como lo esta revelando el Proyecto Genoma Humano. Abarca desde las descripciones basicas sobre la estructura y funcion del DNA y de los cromosomas hasta el diagnostico molecular y la terapia genica. El lector encuentra material actualizado y completo de temas como clonacion, cartografiado, mutacion y enfermedad genetica. La organizacion del libro permite una rapida evaluacion del contenido y un facil acceso al material y esta diseñado para que los lectores se sientan atraidos por el texto: se incluyen figuras de gran calidad para reforzar puntos tratados en el texto y recuadros en color para resaltar conceptos importantes.

The second edition of New Clinical Genetics has been comprehensively updated, but the unique structure and format of the first edition have been retained. New cases have been introduced covering Fragile X and the identification of an underlying chromosome problem by SNP chip analysis.While many of the basic scientific principles remain, much new material has been added:· SNP arrays and next generation sequencing (including whole exome sequencing) are described and their impact on clinical genetic services discussed· noncoding RNAs are covered in more detail· developmental pathways are discussed in the context of the RASMAPK pathway· the value and limitations of genome-wide association studies for identifying susceptibility to common diseases are reviewed in the light of the extensive experimental data now available· the final chapter has been substantially enlarged to show how genetic services are delivered and the increasing role of clinical geneticists in patient managementThe innovative integrated case-based approach coupled with the clear writing style of the authors has made this book a hugely successful textbook for medical students worldwide. It is also an essential guide to modern medical genetics for all those involved in the field, from clinical and nurse geneticists to genetic counselors. Printed in full colour throughout.