Zobrazeno 1 - 10
of 14
pro vyhledávání: '"M C, Rosatelli"'
Publikováno v:
EJIFCC
SUMMARY The most important aspects of carrier detection procedures, genetic counselling, population screening and fetal diagnosis of the thalassaemias and sickle cell anaemia are reviewed. Carrier detection can be made retrospectively, i.e. following
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::173814386f886ef06a406ea40510f429
https://pubmed.ncbi.nlm.nih.gov/30707531
https://pubmed.ncbi.nlm.nih.gov/30707531
Publikováno v:
Genetics and molecular research : GMR. 13(4)
Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951b5989ab0a051e3de4aa7946f87b2f
https://pubmed.ncbi.nlm.nih.gov/25501174
https://pubmed.ncbi.nlm.nih.gov/25501174
Autor:
D. Hess, Hannes Frischknecht, M. Ventruto, U. Breitenstein, Jörg Fehr, Peter Hunziker, P. Tuchschmid, M. C. Rosatelli, Antonio Cao
Publikováno v:
Hemoglobin. 20:31-40
This paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal beta-globin chain was detected by reversed phase chromatography. Mutation mapping of the beta-globin gene by polymer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::603fd2a58aba84e0f698891750012fa4
https://doi.org/10.3109/03630269609027908
https://doi.org/10.3109/03630269609027908
Publikováno v:
Ciba Foundation Symposium 197-Variation in the Human Genome
Homozygous beta-thalassaemia in a number of at-risk populations (Greek and Turkish Cypriots, Greeks, Continental Italians and Sardinians) has been prevented at the population level by programmes based on carrier screening, genetic counselling and pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1edf718c6c1e8f6901ac7df0f01aef2c
https://doi.org/10.1002/9780470514887.ch8
https://doi.org/10.1002/9780470514887.ch8
Publikováno v:
The Indian journal of medical research. 111
We report the analysis of a beta-thalassaemia gene involving three bases in codons 4/5 and 6 (ACT CCT GAG-ACA TCT TAG) in a confirmed carrier whose child had beta-thalassaemia major. The fragment of the gene carrying the mutation was detected by dena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94fdaa1c0919b795cb8eb880bd0cd80a
https://pubmed.ncbi.nlm.nih.gov/10793490
https://pubmed.ncbi.nlm.nih.gov/10793490
Autor:
M. C. Rosatelli, Alessandra Meloni, Antonella Meloni, Marcella Devoto, Antonio Cao, H. S. Scott, Pärt Peterson, Maarit Heino, Kai J. E. Krohn, Kentaro Nagamine, J. Kudoh, Nobuyoshi Shimizu, Stylianos E. Antonarakis
Publikováno v:
Human Genetics, Vol. 103, No 4 (1998) pp. 428-434
Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; also called APS-1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is characterized by two of the three major clinical symptoms t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d43ef3abd9a2eb1498b376a542c89a
https://archive-ouverte.unige.ch/unige:9001
https://archive-ouverte.unige.ch/unige:9001
Publikováno v:
JAMA. 278(15)
Thalassemias are common autosomal recessive disorders especially in populations of Mediterranean, Middle Eastern, and Far Eastern descent. Relatively high incidence is also observed in people of Asian Indian origin but the incidence is more limited i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::24da391ffe0fbb398de58762da87f85b
https://pubmed.ncbi.nlm.nih.gov/9333270
https://pubmed.ncbi.nlm.nih.gov/9333270
Publikováno v:
Seminars in hematology. 33(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e2481853a786b82b378edc603d64430
https://pubmed.ncbi.nlm.nih.gov/8714586
https://pubmed.ncbi.nlm.nih.gov/8714586
Publikováno v:
Ciba Foundation symposium. 197
Homozygous beta-thalassaemia in a number of at-risk populations (Greek and Turkish Cypriots, Greeks, Continental Italians and Sardinians) has been prevented at the population level by programmes based on carrier screening, genetic counselling and pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88c65f9b97cd8ece88088a7982199ab1
https://pubmed.ncbi.nlm.nih.gov/8827372
https://pubmed.ncbi.nlm.nih.gov/8827372
Publikováno v:
The Journal of pediatrics. 127(2)
We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0e32cd93b9bdc05aede1dc8e9925dfa
https://pubmed.ncbi.nlm.nih.gov/8627456
https://pubmed.ncbi.nlm.nih.gov/8627456