Linkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis
نویسندگان
چکیده
منابع مشابه
Linkage of Parkinson’s disease in two very early onset siblings to a locus on chromosome 1
Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملa synchronic and diachronic approach to the change route of address terms in the two recent centuries of persian language
terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...
15 صفحه اولSuggestive linkage to chromosome 6q in families with bilateral vestibulopathy.
BACKGROUND Of the more than 40 genetically defined dominantly inherited hearing loss syndromes, only a few are associated with bilateral vestibulopathy. No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing. OBJECTIVE To perform a genome-wide scan for linkage in four families with dominantly inherited bilateral vestibulopathy. METHODS Patient...
متن کاملLinkage to chromosome 2q32.2-q35 in families with serrated neoplasia
Background Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis (FAP) and Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) are caused by well defined genetic defects, the search for variants underlying the remainder of familial CRC is plagued by genetic he...
متن کاملHereditary elliptocytosis in two Maltese families.
The findings in two elliptocytic families are recorded and compared. It is the first report of the anomaly in the Maltese population.A variable degree of clinical and haematological expression among the members of the two families has been observed, ranging from healthy individuals with normal cell morphology to others with only elliptocytic erythrocytes and mild anaemia. Two subjects have been...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2007
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201814