Zobrazeno 1 - 10
of 268
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
Autor:
Leelacharas, Sirirat (AUTHOR), Maneesriwongul, Wantana (AUTHOR), Butsing, Nipaporn (AUTHOR), Kittipimpanon, Kamonrat (AUTHOR), Visudtibhan, Poolsuk Janepanish (AUTHOR)
Publikováno v:
Patient Preference & Adherence. Sep2024, Vol. 18, p1815-1828. 14p.
Autor:
Pölzl-Stefanec, Eva1,2 (AUTHOR) eva.stefanec@uni-graz.at, Barta, Mailina3 (AUTHOR), Walter-Laager, Catherine3 (AUTHOR)
Publikováno v:
Early Childhood Education Journal. Aug2024, Vol. 52 Issue 6, p969-978. 10p.
Autor:
SOYUK, Gökçe Nur1 gokcenursoyuk@gmail.com, EMANETOĞLU, Eda2 eda.emanet28@gmail.com, BİLGİN, Esra2 esrabilgiinn@gmail.com, GÜME, Sena3 sgume@medipol.edu.tr
Publikováno v:
Pamukkale University Journal of Social Sciences Institute / Pamukkale Üniversitesi Sosyal Bilimler Enstitüsü Dergisi. Jul2024, Issue 63, p85-98. 14p.
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:
Chaaya, Roni1 (AUTHOR), Hallit, Rabih2,3,4 (AUTHOR), Malaeb, Diana5 (AUTHOR), Sakr, Fouad6 (AUTHOR), Dabbous, Mariam6 (AUTHOR), El Khatib, Sami7,8 (AUTHOR), Fekih-Romdhane, Feten9,10 (AUTHOR), Hallit, Souheil2,11 (AUTHOR) souheilhallit@hotmail.com, Obeid, Sahar1 (AUTHOR) saharobeid23@hotmail.com
Publikováno v:
BMC Psychiatry. 4/26/2024, Vol. 24 Issue 1, p1-10. 10p.
Autor:
Choi, Dae-Eun1 (AUTHOR), Kim, Duk Ki2 (AUTHOR), Park, Sunghoon3 (AUTHOR), Lee, Su Hwan4 (AUTHOR), Park, Onyu5 (AUTHOR), Kim, Taehwa6 (AUTHOR), Yeo, Hye Ju6 (AUTHOR), Jang, Jin Ho6 (AUTHOR), Cho, Woo Hyun6 (AUTHOR), Lee, Song I.2 (AUTHOR) songi_cnu@cnu.ac.kr
Publikováno v:
PLoS ONE. 4/3/2024, Vol. 19 Issue 4, p1-14. 14p.
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