نتایج جستجو برای: apert syndrome
تعداد نتایج: 621953 فیلتر نتایج به سال:
Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates e...
This study compares the relative effects of advancing male age on multiple genomic defects in human sperm [DNA fragmentation index (DFI), chromatin integrity, gene mutations, and numerical chromosomal abnormalities], characterizes the relationships among these defects and with semen quality, and estimates the incidence of susceptible individuals for a well characterized nonclinical nonsmoking g...
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.
Nowadays, children with hypoplastic left heart syndrome (HLHS) survive longer. Thus, the management of such patients undergoing non-cardiac surgery is of increasing relevance. A 12-month-old boy with HLHS following stage II Norwood palliation and Apert syndrome required extended craniosynostosis surgery because of elevated intracerebral pressure. Since extensive blood loss as well as hemodynami...
BACKGROUND AND OBJECTIVE Craniofacial surgery for craniosynostosis is one of the most challenging reconstructive procedures. Restoration of particular functional and anatomic requirements is important for development from infancy to adulthood. The purpose of this study is to present the authors' experience of craniofacial surgery for management of patients with craniosynostosis in Srinagarind H...
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