منابع مشابه
Haemophilia: strategies for carrier detection and prenatal diagnosis.
In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the...
متن کاملPrenatal Diagnosis of Granular Cell Tumor
Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...
متن کاملPrenatal Diagnosis, Sampling of Chorionic Villi
Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...
متن کاملThe Laboratory Diagnosis of Haemophilia.
Haemophilia is the only recognized haemorrhagic diathesis which is inherited as a sex linked recessive character. It is a disease of males which is transmitted through apparently unaffected females. The classical case can be recognized with certainty since the laboratory manifestations are specific. The association of a prolonged coagulation time with a normal bleeding time and platelet count, ...
متن کاملDiagnosis and management of haemophilia.
1AmsterdamHaemophilia Treatment Centre, Academic Medical Center, 1100 DD Amsterdam, Netherlands ; 2Department of Paediatric Haematology, Emma Children’s Hospital, Academic Medical Center, Amsterdam, Netherlands; 3Department of Paediatric Haematology and Oncology, Erasmus Medical Center, Sophia Children’s Hospital, Rotterdam, Netherlands; 4Department of Haematology, ErasmusMedical Center, Rotter...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1988
ISSN: 0021-5074
DOI: 10.1007/bf01897779