PMC Links for OMIM (Select 268300) - PMC - NCBI

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Items: 7

Select item 44270551.

Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova, María-Luisa Martínez-Frías

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 May 11.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 Nov 15; 0(4): 305–320. Published online 2011 Oct 14. doi: 10.1002/ajmg.c.30320

PMCID:: PMC4427055

Abstract Article PDF–1.1M

Select item 16846552.

Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?

D J Tomkins, J E Sisken

Am J Hum Genet. 1984 Nov; 36(6): 1332–1340.

PMCID:: PMC1684655

Summary Page Browse PDF–1.7M

Select item 16840513.

Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.

N E Krassikoff, J M Cowan, D M Parry, U Francke

Am J Hum Genet. 1986 Nov; 39(5): 618–630.

PMCID:: PMC1684051

Summary Page Browse PDF–1.8M

Select item 12851694.

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

Birgitt Schüle, Angelica Oviedo, Kathreen Johnston, Shashidhar Pai, Uta Francke

Am J Hum Genet. 2005 Dec; 77(6): 1117–1128. Published online 2005 Oct 31. doi: 10.1086/498695

PMCID:: PMC1285169

Abstract Article PDF–2.0M

Select item 12261855.

Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells

Lisa D. McDaniel, Darrell J. Tomkins, Eric J. Stanbridge, Martin J. Somerville, Errol C. Friedberg, Roger A. Schultz

Am J Hum Genet. 2005 Jul; 77(1): 132–139. Published online 2005 May 10. doi: 10.1086/431328

PMCID:: PMC1226185

Abstract Article PDF–2.4M

Select item 10171346.

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

S M Huson, C S Rodgers, C M Hall, R M Winter

J Med Genet. 1990 Jun; 27(6): 371–375. doi: 10.1136/jmg.27.6.371

PMCID:: PMC1017134

Summary Page Browse PDF–991K

Select item 10125997.

Roberts's syndrome and clonidine.

C Stoll, J M Levy, D Beshara

J Med Genet. 1979 Dec; 16(6): 486–488. doi: 10.1136/jmg.16.6.486

PMCID:: PMC1012599

Summary Page Browse PDF–424K

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