Zobrazeno 1 - 10
of 80
pro vyhledávání: '"L, Bachner"'
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen
Autor:
H Kääriäinen, Klaus Zerres, T. Lennert, Hph. Neumann, Yves Pirson, Sabine Rudnik-Schöneborn, Brunhilde Wirth, L. Bachner, Joachim Misselwitz, T. Eggermann, V. Steinbicker, Michael Knapp, Karl Schärer, Gabi Mücher, Ke. Vonmuhlendahl, G. Deschennes
Publikováno v:
Nature Genetics. 7:429-432
Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54cd27f82f86dc57a4c253fcfdc98b5
https://doi.org/10.1038/ng0794-429
https://doi.org/10.1038/ng0794-429
Publikováno v:
Human Molecular Genetics. 2:61-67
The heterogeneity of mutations causing Tay-Sachs disease in non-Jewish populations requires efficient techniques allowing the simultaneous screening for both known and novel mutations. beta-hexosaminidase mRNA isolated from cultured fibroblasts of 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80163f3c54a6c68a666648de2a7079d4
https://doi.org/10.1093/hmg/2.1.61
https://doi.org/10.1093/hmg/2.1.61
Autor:
T Bienvenu, Pierre Billuart, L. Bachner, Jacques Motte, M C Vinet, V. des Portes, Olivier Dulac, Jamel Chelly, D Smadja, Alain Carrié, Isabelle Desguerre, Cherif Beldjord, JM Pinard, G Ponsot, M.-L. Moutard, Odile Boespflug-Tanguy, Axel Kahn
Publikováno v:
Journal of medical genetics. 34(3)
X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459db4a3e5c36b16533c4290040c3f21
https://pubmed.ncbi.nlm.nih.gov/9132485
https://pubmed.ncbi.nlm.nih.gov/9132485
Autor:
Nadem Soufir, M C Vinet, Enrico Bertini, Axel Kahn, T. Brüls, Th. Bienvenu, Jamel Chelly, Cherif Beldjord, Emilio Franzoni, Elisabetta Malaspina, Pierre Billuart, L. Bachner, Valentina Marchiani, V. des Portes
Publikováno v:
American journal of medical genetics. 64(1)
Linkage analysis was performed in a previously described family segregating for an X-linked progressive neurological disorder [Bertini et al., 1992]. In three generations, the disease was inherited from the mothers in seven affected males (Fig. 1). F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367354beaac5bfd8165ec3d101207561
https://pubmed.ncbi.nlm.nih.gov/8826451
https://pubmed.ncbi.nlm.nih.gov/8826451
Autor:
A, Frisch, M, Frydman, O, Blau, R, Narinsky, G, Morduchowicz, G, Boner, L, Bachner, R, Steinherz
Publikováno v:
Israel journal of medical sciences. 28(10)
A large Jewish family from Tashkent (Uzbekistan) was studied for linkage of autosomal dominant polycystic kidney disease (ADPKD) to molecular markers on the short arm of chromosome 16. A restriction fragment length polymorphism (RFLP) analysis was pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a574e0b585ab79ef5260e95adfbd8628
https://pubmed.ncbi.nlm.nih.gov/1356950
https://pubmed.ncbi.nlm.nih.gov/1356950
Autor:
Axel Kahn, Cherif Beldjord, Jamel Chelly, Enrico Bertini, Nadem Soufir, M C Vinet, V. des Portes, T. Brüls, Emilio Franzoni, Elisabetta Malaspina, T Bienvenu, Pierre Billuart, L. Bachner, Valentina Marchiani
Publikováno v:
Archives de Pédiatrie. 3:930
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4ac4d681a7838522f91230a400cbc3e
https://doi.org/10.1016/0929-693x(96)87627-5
https://doi.org/10.1016/0929-693x(96)87627-5
Autor:
Nadem Soufir, T. Brüls, Joëlle Boué, M C Vinet, V. des Portes, Cherif Beldjord, Jamel Chelly, L. Telvi, G Ponsot, T Bienvenu, Pierre Billuart, L. Bachner
Publikováno v:
Archives de Pédiatrie. 3:923
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ba5bfef5e63a637c3a8a3b60e463095
https://doi.org/10.1016/0929-693x(96)87601-9
https://doi.org/10.1016/0929-693x(96)87601-9
Autor:
L Bachner
Publikováno v:
médecine/sciences. 6:904
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b056120630bcdf3119379b21d6ac5a30
https://doi.org/10.4267/10608/4258
https://doi.org/10.4267/10608/4258
Publikováno v:
Journal of Chromatography B: Biomedical Sciences and Applications. 162:547-559
An accurate, improved cation-exchange chromatographic method using o-phthalaldehyde and ultraviolet detection at 280 nm for the determination of free polyamines (putrescine, spermidine, spermine) has been developed. Different samples, such as the 105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a54a484f884cdaca486b76315ab76e5
https://doi.org/10.1016/s0378-4347(00)81834-4
https://doi.org/10.1016/s0378-4347(00)81834-4
Publikováno v:
Life Sciences. 27:387-394
The amount of type I and type II cyclic AMP dependent protein kinase present in rat heart was determined at differents times during triiodothyronine (T3) induced cardiac hypertrophy. A difference between the two isozymes was observed, with two maximu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17826fc623372baf4639be7557131fa1
https://doi.org/10.1016/0024-3205(80)90186-1
https://doi.org/10.1016/0024-3205(80)90186-1