Zobrazeno 1 - 10
of 174
pro vyhledávání: '"P. Patracchini"'
Autor:
L. Calliari, H. Holler, Filippo Bernardi, S. Calzolari, V. Aiello, S. Belli, P. Patracchini, D. Orrico, P. Palazzi, Elisa Calzolari, A. Sensi, C. Marzi
Publikováno v:
American Journal of Medical Genetics. 67:154-161
Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b66c0db280fa3789e28d8abdc4df7fc2
https://doi.org/10.1002/(sici)1096-8628(19960409)67:2<154::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960409)67:2<154::aid-ajmg5>3.0.co
Autor:
Francesco Bernardi, Giovanna Marchetti, Donato Gemmati, P. Arcieri, M. Papacchini, P. Patracchini, F. Baudo, R. Redaelli, M. Ferrati, G. Mariani
Publikováno v:
Human Genetics. 92:446-450
Molecular defects and polymorphic haplotypes of coagulation factor VII gene were studied in eight unrelated Italian subjects with factor VII deficiency, seven having the factor VII- variant, one the factor VIIR variant. An intron 7 mutation, which al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa24337bf2ff9295f8af6e1f2474dd75
https://doi.org/10.1007/bf00216448
https://doi.org/10.1007/bf00216448
Autor:
G. Ballerini, Giovanna Marchetti, Donato Gemmati, P. Patracchini, C. Schwienbacher, Mirko Pinotti, Francesco Bernardi
Publikováno v:
Scopus-Elsevier
von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, is very heterogeneous and has been classified into several subtypes. Missense mutations have been found to be responsible for the dominant type II vWD, characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10146419cee797f62a9088db8409a10
https://doi.org/10.1093/hmg/2.5.545
https://doi.org/10.1093/hmg/2.5.545
Autor:
V. Aiello, Francesco Bernardi, P. Patracchini, C. Schwienbacher, Giovanna Marchetti, Elisa Calzolari, Stefano Volinia, N. Ciavarella, M. Schiavoni
Publikováno v:
Scopus-Elsevier
Summary The homologous pseudogenic and genic regions of von Willebrand factor (vWF) were studied in DNA from a patient with homozygous deletion of vWF genes and compared with a normal control. This analysis indicates informative restriction patterns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2cc3b4ccab099e71bb3bf7ca2e939b
https://doi.org/10.1111/j.1365-2141.1991.tb04385.x
https://doi.org/10.1111/j.1365-2141.1991.tb04385.x
Autor:
Cristina Legnani, Francesco Conconi, Giovanna Marchetti, V. DeRosa, Francesco Bernardi, Donato Gemmati, Alessandra Casonato, Antonio Girolami, P. Patracchini
Publikováno v:
British Journal of Haematology. 74:282-289
Summary Three TaqI restriction fragment length polymorphisms (RFLP) detected by the central portion of von Willebrand factor cDNA, which recognizes the true gene and in addition pseudogenic sequences, were characterized and mapped. Small cDNA fragmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebffa18dde3f7aa8fc61e420448de894
https://doi.org/10.1111/j.1365-2141.1990.tb02584.x
https://doi.org/10.1111/j.1365-2141.1990.tb02584.x
Autor:
Francesco Bernardi, Sergio Coccheri, G. Palareti, Donato Gemmati, M. Ferrati, P. Patracchini, Cristina Legnani, Giovanna Marchetti
Publikováno v:
British Journal of Haematology. 85:173-175
Summary. A protein S gene polymorphism, detectable by restriction analysis of amplified exonic sequences, was investigated in a family with members affected by protein S deficiency, deep vein thrombosis and ictus. The clinical laboratory findings as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b64eab4f0fdf04ca6a655f409039ed1
https://doi.org/10.1111/j.1365-2141.1993.tb08662.x
https://doi.org/10.1111/j.1365-2141.1993.tb08662.x
Autor:
E, Calzolari, V, Aiello, P, Palazzi, A, Sensi, S, Calzolari, D, Orrico, L, Calliari, H, Holler, C, Marzi, S, Belli, F, Bernardi, P, Patracchini
Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9031238f1b0e636635f9954addc7a8f7
http://hdl.handle.net/11392/1682628
http://hdl.handle.net/11392/1682628
Autor:
Mirko Pinotti, Francesco Bernardi, Susan Pemberton, Egd Tuddenham, R. Redaelli, P. Arcieri, G. Mariani, Cristina Legnani, D. L. Liney, Giovanna Marchetti, Donato Gemmati, P. Patracchini, G. Ballerini, A. I. Wacey
Publikováno v:
Scopus-Elsevier
The molecular defects causing CRM+ factor VII deficiency were investigated in seven unrelated subjects and several members of their families. Four missense mutations located in the catalytic domain of factor VII were found. The previously reported 30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c50c568e9ff0b4aed63e58d81a9b7c
https://pubmed.ncbi.nlm.nih.gov/8043443
https://pubmed.ncbi.nlm.nih.gov/8043443
Publikováno v:
Human molecular genetics. 2(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d241dab5eae99b5ae8cca84d23a5f9e
https://pubmed.ncbi.nlm.nih.gov/8364544
https://pubmed.ncbi.nlm.nih.gov/8364544
Autor:
Giovanna Marchetti, A. I. Wacey, David Neil Cooper, P. Patracchini, Francesco Bernardi, Giancarlo Castaman, Egd Tuddenham, Donato Gemmati, Francesco Rodeghiero
Publikováno v:
Scopus-Elsevier
A patient with recurrent deep vein thrombosis and heterozygous type II deficiency, characterized by reduced protein C activity in both amidolytic and clotting functional assays, was investigated by direct sequencing of PCR fragments derived from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a7dfb307d4b7d361af55c1bef6ed4d
https://pubmed.ncbi.nlm.nih.gov/8398832
https://pubmed.ncbi.nlm.nih.gov/8398832