Literature DB >> 3568444

Roberts syndrome and SC phocomelia. A single genetic entity.

C Römke, U Froster-Iskenius, K Heyne, W Höhn, M Hof, G Grzejszczyk, R Rauskolb, H Rehder, E Schwinger.   

Abstract

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.

Entities:  

Mesh：

Year:  1987        PMID： 3568444     DOI： 10.1111/j.1399-0004.1987.tb02790.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  12 in total

Review 1.  Roberts-SC phocomelia syndrome.

Authors:  A Maheshwari; P Kumar; S Dutta; A Narang
Journal:  Indian J Pediatr       Date:  2001-06       Impact factor: 1.967

2.  Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

Authors:  P D Turnpenny; J C Dean; P Duffty; J A Reid; P Carter
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 3.  Review and hypothesis: Alzheimer disease and Down syndrome--chromosome 21 nondisjunction may underlie both disorders.

Authors:  H Potter
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

4.  Mitotic disturbance associated with mosaic aneuploidies.

Authors:  K Miller; W Müller; L Winkler; M R Hadam; J H Ehrich; S D Flatz
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

Review 5.  Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.

Authors:  Dale Dorsett
Journal:  Chromosoma       Date:  2006-07-04       Impact factor: 4.316

6.  Phocomelia and additional anomalies in two sisters.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

7.  Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.

Authors:  E W Jabs; C M Tuck-Muller; R Cusano; J B Rattner
Journal:  Chromosoma       Date:  1991-05       Impact factor: 4.316

Review 8.  C-anaphases in lymphocyte cultures versus premature centromere division syndromes.

Authors:  Y Chamla
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

Review 9.  A review of supernumerary and absent limbs and digits of the upper limb.

Authors:  Zachary Klaassen; Monica Choi; Ruth Musselman; Deborah Eapen; R Shane Tubbs; Marios Loukas
Journal:  Surg Radiol Anat       Date:  2011-11-09       Impact factor: 1.246

10.  "Premature anaphase" in a couple with recurrent miscarriages.

Authors:  K Bajnóczky; S Gardó
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
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