Literature DB >> 5808544

A radiological and genetic investigation of acheiropody in a kindred including six cases.

S P Toledo, P H Saldanha.   

Abstract

Mesh:

Year:  1969        PMID: 5808544

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


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  6 in total

1.  Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

Authors:  A Freire-Maia; N Freire-Maia; N E Morton; E S Azevêdo; A Quelce-Salgado
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

2.  Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.

Authors:  A Freire-Maia; W H Li; T Maruyama
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

3.  Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Authors:  P Ianakiev; M J Daly; S P Toledo; M G Cavalcanti; J C Neto; E L Silveira; A Freire-Maia; P Heutink; M W Kilpatrick; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

4.  A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.

Authors:  M A Escamilla; M C DeMille; E Benavides; E Roche; L Almasy; S Pittman; J Hauser; D F Lew; N B Freimer; M R Whittle
Journal:  Am J Hum Genet       Date:  2000-04-25       Impact factor: 11.025

5.  Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports.

Authors:  Amen Samuel Melaku; Fiker Tadesse Bekele; Yilkal Muchie Dires; Laurence Wicks
Journal:  J Med Case Rep       Date:  2022-06-02

6.  Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.

Authors:  R M Clark; P C Marker; E Roessler; A Dutra; J C Schimenti; M Muenke; D M Kingsley
Journal:  Genetics       Date:  2001-10       Impact factor: 4.562

  6 in total

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