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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. ...
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenat …
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. Increased nuchal translucency was reported in other cases subs …
Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Ro …
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P. Kennelly MM, et al. Prenat Diagn. 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. Prenat Diagn. 2007. PMID: 17533626
An antenatal diagnosis was made in 61% (11/18) - isolated limb reduction defects, Trisomy 18, TAR, fetal valproate syndrome, Roberts syndrome. Of the rest, 3 had a cordocentesis with normal chromosome fragility tests (VACTERL association, Goldenhar syndrome and Acro …
An antenatal diagnosis was made in 61% (11/18) - isolated limb reduction defects, Trisomy 18, TAR, fetal valproate syndrome, Roberts …
Prenatal diagnosis of renal anomalies.
Kaffe S, Rose JS, Godmilow L, Walker BA, Kerenyi T, Beratis N, Reyes P, Hirschhorn K. Kaffe S, et al. Am J Med Genet. 1977;1(2):241-51. doi: 10.1002/ajmg.1320010210. Am J Med Genet. 1977. PMID: 610432
The ultrasound scans of the fetuses affected with Meckel and Roberts syndrome demonstrated anechoic cystic spaces in the abdomen, representing the enlarged dysplastic cystic kidneys. An encephalocele was well demonstrated by B-mode scan in the fetus with Meckel synd …
The ultrasound scans of the fetuses affected with Meckel and Roberts syndrome demonstrated anechoic cystic spaces in the abdom …
Roberts syndrome: first-trimester prenatal diagnosis.
Otaño L, Matayoshi T, Gadow EC. Otaño L, et al. Prenat Diagn. 1996 Aug;16(8):770-1. doi: 10.1002/(SICI)1097-0223(199608)16:8<770::AID-PD936>3.0.CO;2-9. Prenat Diagn. 1996. PMID: 8878291 No abstract available.
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.
Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA. Ismail S, et al. Genet Couns. 2016;27(3):305-323. Genet Couns. 2016. PMID: 30204960
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. ...Evaluation of the studied 8 patients showed that they all exhibited the main limb and craniofacial features of Roberts syndrome. Cytogenetic studies …
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. ...Evaluation of the studi …
Prenatal diagnosis of Roberts syndrome.
Hirschhorn K, Kaffe S. Hirschhorn K, et al. Prenat Diagn. 1992 Nov;12(11):976. doi: 10.1002/pd.1970121123. Prenat Diagn. 1992. PMID: 1494554 No abstract available.