1 |
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.
61
6
56
|
Parry DM...Cowan JM
|
3740099 |
1986 |
2 |
Cytogenetic findings in Roberts-SC phocomelia syndrome(s).
61
6
56
|
Tomkins D...Roberts M
|
495649 |
1979 |
3 |
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
56
6
|
Schule B...Francke U
|
16380922 |
2005 |
4 |
History of C-patient with SC-Roberts/pseudothalidamide syndrome.
56
6
|
Feingold M
|
1642282 |
1992 |
5 |
A sibship with Roberts/SC phocomelia syndrome.
56
61
|
Holmes-Siedle M...Crouchman M
|
2240038 |
1990 |
6 |
Roberts'--SC phocomelia syndrome with cytogenetic findings.
56
61
|
Leonard P...Skardoon L
|
7106776 |
1982 |
7 |
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.
61
56
|
Qazi QH...Choi SJ
|
517578 |
1979 |
8 |
The SC phocomelia and the Roberts syndrome: nosologic aspects.
61
56
|
Herrmann J...Opitz JM
|
872834 |
1977 |
9 |
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome).
56
61
|
Hall BD...Greenberg MH
|
5033248 |
1972 |
10 |
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
56
|
Goh ES...Morel CF
|
20101700 |
2010 |
11 |
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
56
|
Gordillo M...Jabs EW
|
18411254 |
2008 |
12 |
ESCO2 Spectrum Disorder
6
|
Vega H...Jabs EW
|
20301332 |
2006 |
13 |
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
6
|
Vega H...Joenje H
|
15821733 |
2005 |
14 |
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al.
56
|
Opitz JM...Lowry RB
|
3812580 |
1987 |
15 |
Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings.
56
|
BenEzra D...Zelikovitch A
|
7171776 |
1982 |
16 |
The tetraphocomelia -- cleft palate syndrome: description of a new case.
56
|
Grosse FR...Wiedemann HR
|
1176127 |
1975 |
17 |
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
61
|
Kantaputra PN...Ketudat Cairns JR
|
32255174 |
2020 |
18 |
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
61
|
Sezer A...Percin EF
|
30590172 |
2019 |
19 |
Expanding the mutation and clinical spectrum of Roberts syndrome.
61
|
Afifi HH...Gaber KR
|
26710928 |
2016 |
20 |
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.
61
|
Keypour F...Behnam B
|
24971102 |
2013 |
21 |
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.
61
|
Wang AC...Maher CO
|
22044369 |
2011 |
22 |
Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.
61
|
Ragavan M...Kumar C
|
20625748 |
2010 |
23 |
Heterochromatin and the cohesion of sister chromatids.
61
|
Gartenberg M
|
19308703 |
2009 |
24 |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
61
|
Deardorff MA...Krantz ID
|
17273969 |
2007 |
25 |
Roberts syndrome, normal cell division, and normal intelligence.
61
|
Hwang K...Lee HS
|
12040206 |
2002 |
26 |
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).
61
|
Murray RS...FitzPatrick DR
|
12002154 |
2002 |
27 |
Roberts-SC phocomelia syndrome.
61
|
Maheshwari A...Narang A
|
11450388 |
2001 |
28 |
[Roberts-SC phocomelia syndrome].
61
|
Musfeld DA...Heinzl S
|
11423730 |
2001 |
29 |
[Roberts-SC phocomelia syndrome].
61
|
Kawame H
|
11057210 |
2000 |
30 |
Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia.
61
|
Camlibel T...Kutlu N
|
10422009 |
1999 |
31 |
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
61
|
Gripp KW...Zackai EH
|
9934984 |
1999 |
32 |
Tetra-amelia and splenogonadal fusion in Roberts syndrome.
61
|
de Ravel TJ...Wright CA
|
9028456 |
1997 |
33 |
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
61
|
Song SY...Chi JG
|
9147883 |
1996 |
34 |
Picture of the month. Roberts-SC phocomelia syndrome.
61
|
Lopez-Allen G...Tunnessen WW
|
8646318 |
1996 |
35 |
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
61
|
Concolino D...Andria G
|
8832138 |
1996 |
36 |
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome.
61
|
Sabry MA
|
7558058 |
1995 |
37 |
Roberts-SC phocomelia syndrome: a case with additional anomalies.
61
|
Satar M...Tunali N
|
8004795 |
1994 |
38 |
Roberts-SC phocomelia syndrome in a baboon (Papio anubis).
61
|
Kovacs MS...Bennett BT
|
1460857 |
1992 |
39 |
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.
61
|
Sherer DM...Woods JR
|
1741870 |
1991 |
40 |
Roberts syndrome with normal cell division.
61
|
Keppen LD...Sisken JE
|
2012128 |
1991 |
41 |
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
61
|
Robins DB...Zackai EH
|
2658590 |
1989 |
42 |
Roberts-SC phocomelia syndrome with exencephaly.
61
|
Verloes A...Dodinval P
|
2817778 |
1989 |
43 |
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome.
61
|
Stanley WS...McNeal KS
|
3205861 |
1988 |
44 |
[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].
61
|
Antinolo Gil G...Sanchez Garcia J
|
3057982 |
1988 |
45 |
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.
61
|
Krassikoff NE...Francke U
|
3788975 |
1986 |
46 |
[Roberts-SC phocomelia syndrome].
61
|
Baggio P...Audino G
|
3725603 |
1986 |
47 |
[The Roberts-SC phocomelia syndrome. Apropos of a case without cytogenetic changes and review of the literature].
61
|
Lopez-Herce J...Peralta A
|
3006564 |
1985 |
48 |
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?
61
|
Tomkins DJ...Sisken JE
|
6517054 |
1984 |
49 |
A case of SC-phocomelia syndrome with nonrandom centromere separation.
61
|
Bokesoy I...Bilgic S
|
7163280 |
1982 |