全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
中外文文献  中文文献  外文文献
作者:Rosanna Pallotta , Anita Saponari ...
来源:[J].PLoS Genetics(IF 8.694), 2011, Vol.7 (7)DOAJ
摘要:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a...
作者:Rosanna Pallotta , James A. Swift ...
来源:[J].Brain and Development(IF 1.668), 2005, Vol.28 (6), pp.392-394Elsevier
摘要:Abstract(#br)We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid c...
作者:Rosanna Pallotta , Gioacchino Scarano ...
来源:[J].The American Journal of Human Genetics(IF 11.202), 2002, Vol.71 (2), pp.426-431Elsevier
摘要:Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/...
作者:Rosanna Pallotta , Francesca Perut ...
来源:[J].BBA - Molecular Basis of Disease(IF 4.91), 2011, Vol.1812 (7), pp.711-718Elsevier
摘要:Abstract(#br)Mandibuloacral dysplasia type A (MADA) is a rare disease caused by mutations in the LMNA gene encoding A type lamins. Patients affected by mandibuloacral dysplasia type A suffer from partial lipodystrophy, skin abnormalities and accelerated aging. Typical of mandibul...
作者:Rosanna Pallotta , Anita Saponari ...
来源:[J].PLOS Genetics(IF 8.694), 2011, Vol.7 (7)PLOS
摘要:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a...
作者:Rosanna Pallotta , Tamara Ehresmann , Paola Fusilli
来源:[J].Ophthalmic Genetics(IF 1.07), 2001, Vol.22 (2), pp.125-130Informa Healthcare
作者:Rosanna Pallotta
来源:[J].Ophthalmic Genetics(IF 1.07), 1983, Vol.3 (2), pp.103-107Informa Healthcare
摘要:The association of microphthalmia and/or anophthalmia with microcephaly, vertebral, renal, urogenital and congenital heart diseases, has been recognized by Lenz as a distinct syndrome with X-linked recessive inheritance. Four familial and two sporadic cases have been published. T...

我们正在为您处理中,这可能需要一些时间,请稍等。

资源合作:cnki.scholar@cnki.net, +86-10-82896619   意见反馈:scholar@cnki.net

×