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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
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1989 2
1991 1
1995 1
1996 1
1998 3
1999 2
2000 1
2002 1
2003 1
2005 1
2006 1
2007 1
2008 2
2009 1
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2019 2
2024 0

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28 results

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Page 1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
We discuss the possible impact of SGO1 alterations in human pathologies and the potential impact of the SGO1 K23E mutation in the sinus node and gut development and functions. We suggest that the human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies ca …
We discuss the possible impact of SGO1 alterations in human pathologies and the potential impact of the SGO1 K23E mutation in the sinus node …
Genome stability: What we have learned from cohesinopathies.
Cucco F, Musio A. Cucco F, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):171-8. doi: 10.1002/ajmg.c.31492. Epub 2016 Apr 19. Am J Med Genet C Semin Med Genet. 2016. PMID: 27091086 Review.
Cohesinopathy cells are characterized by genome instability (GIN) visualized by a constellation of markers such as chromosome aneuploidies, chromosome aberrations, precocious sister chromatid separation, premature centromere separation, micronuclei formation, and sensitivity to g …
Cohesinopathy cells are characterized by genome instability (GIN) visualized by a constellation of markers such as chromosome aneuploidies, …
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
Temtamy SA, Ismail S, Helmy NA. Temtamy SA, et al. Genet Couns. 2006;17(1):1-13. Genet Couns. 2006. PMID: 16719272 Review.
Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). ...Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian …
Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). ...Phenotypic variability within the same family …
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. Eppley S, et al. Am J Med Genet A. 2017 Nov;173(11):3075-3081. doi: 10.1002/ajmg.a.38382. Epub 2017 Sep 28. Am J Med Genet A. 2017. PMID: 28960803
After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger sequencing in both affected indiv …
After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T …
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 cases were diagnosed only after 24 weeks of pregnancy (19%) and 3 were only referred after 30 weeks (11.5%). ...A correct antenatal diagnos …
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 …
Early prenatal diagnosis of skeletal anomalies.
Khalil A, Pajkrt E, Chitty LS. Khalil A, et al. Prenat Diagn. 2011 Jan;31(1):115-24. doi: 10.1002/pd.2676. Prenat Diagn. 2011. PMID: 21210484
Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. ...Parents must be made aware that detailed postnatal patholog …
Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Ro …
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.
Urban M, Opitz C, Bommer C, Enders H, Tinschert S, Witkowski R. Urban M, et al. Am J Med Genet. 1998 Sep 23;79(3):155-60. doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9788553 Review.
Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Ro …
Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300 …
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schüle B, Oviedo A, Johnston K, Pai S, Francke U. Schüle B, et al. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 Oct 31. Am J Hum Genet. 2005. PMID: 16380922 Free PMC article.
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. ...Since only protein-truncating mutations were identified, regardles …
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenat …
Heterogeneity in Roberts syndrome.
Allingham-Hawkins DJ, Tomkins DJ. Allingham-Hawkins DJ, et al. Am J Med Genet. 1995 Jan 16;55(2):188-94. doi: 10.1002/ajmg.1320550208. Am J Med Genet. 1995. PMID: 7536395
Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. ...In both fusions, the hybrids demonstrated correction of both the heterochromatin abnormality and MMC hypersensit …
Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental de …
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH. Robins DB, et al. Am J Med Genet. 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. Am J Med Genet. 1989. PMID: 2658590 Review.
Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomel …
Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The …
28 results