A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Rumaisa Bashir Stephen Britton; Tom Strachan; Sharon Keers; Elizabeth Vafiadaki; Majlinda Lako; Isabelle Richard; Sylvie Marchand; Nathalie Bourg; Zohar Argov; Menachem Sadeh; Ibrahim Mahjneh; Giampiero Marconi; Maria Rita Passos-Bueno; Eloísa de Sá Moreira; Mayana Zatz; Jacques S Beckmann; Kate Bushby
Nature Genetics v. 20, p. 37-42, set. 1998
New York 1998
Item não circula. Consulte sua biblioteca.(Acessar)
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Deeann E. Wallis Erich Roessler; Ute Hehr; Luisa Nanni; Tim Wiltshire; Antonio Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; Johanna Rommens; Maximilian Muenke
Nature Genetics Washington v. 22, n. 2, p. 196-198, June 1999
Washington 1999
Item não circula. Consulte sua biblioteca.(Acessar)
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]
Eloisa S. Moreira Tim J Wiltshire; Georgine Faulkner; Antje Nilforoushan; Mariz Vainzof; Oscar T Suzuki; Giorgio Valle; Roger Reeves; Mayana Zatz; Maria Rita Passos-Bueno; Dieter E Jenne
Nature Genetics v. 24, p. 163-166, Feb. 2000
New York 2000
Item não circula. Consulte sua biblioteca.(Acessar)
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
H Kremer R Kraaij; S. P. A Toledo (Sérgio Pereira de Almeida); M Post; J B Fridman; C Y Hayashida; M Reen; E Milgrom; H H Ropers; E Mariman; A P N Themmen; H G Brunner
Washington v.9 , p.160-4, feb. 1995 Nature Genetics
Washington 1995
Localização:
FM - Fac. Medicina
(BCSEP 1995 100 )(Acessar)
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
Lygia da Veiga Pereira Konstantinos Andrikopoulos; Jenny Tian; Sui Ying Lee; Douglas R Keene; Robert Ono; Dieter P Reinhardt; Lynn Y Sakai; Nancy Jensen Biery; Tracie Bunton; Harry C Dietz; Francesco Ramirez
Nature Genetics v. 17, p. 218-222, oct. 1997
1997
Item não circula. Consulte sua biblioteca.(Acessar)