| 1 |
Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome: A Case Report.
61
|
Hakamata M...Kikuchi T
|
33518558 |
2021 |
| 2 |
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
61
|
Meyer R...Eggermann T
|
33482836 |
2021 |
| 3 |
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
61
|
Catusi I...Recalcati MP
|
33187293 |
2020 |
| 4 |
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
61
|
Lokulo-Sodipe O...Temple IK
|
32054688 |
2020 |
| 5 |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
61
|
Inoue T...Kagami M
|
32546215 |
2020 |
| 6 |
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
61
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Patti G...Di Iorgi N
|
31665337 |
2020 |
| 7 |
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.
61
|
Giabicani E...Netchine I
|
31655321 |
2019 |
| 8 |
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
61
|
Eggermann T...Elbracht M
|
31100449 |
2019 |
| 9 |
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome.
61
|
Xia CL...Wei J
|
31803239 |
2019 |
| 10 |
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
61
|
Leszinski GS...Wagner M
|
29655892 |
2018 |
| 11 |
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
61
|
Tumer Z...Eggermann T
|
29250858 |
2018 |
| 12 |
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome.
61
|
Wu D...Su C
|
28624953 |
2017 |
| 13 |
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
61
|
Binder G...Schweizer R
|
28675902 |
2017 |
| 14 |
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
61
|
Su J...Shen Y
|
29075327 |
2017 |
| 15 |
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
61
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Sachwitz J...Eggermann T
|
27172843 |
2017 |
| 16 |
Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.
61
|
Pelosi P...Stagi S
|
28936199 |
2017 |
| 17 |
Silver-Russell syndrome in Hong Kong.
61
|
Luk HM...Lo IF
|
27468965 |
2016 |
| 18 |
New clinical and molecular insights into Silver-Russell syndrome.
61
|
Giabicani E...Brioude F
|
27386972 |
2016 |
| 19 |
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
61
|
Eggermann T...Lapunzina P
|
26508573 |
2016 |
| 20 |
FOXP2-Related Speech and Language Disorders
61
|
Morgan A...Hildebrand M
|
27336128 |
2016 |
| 21 |
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA?
61
|
Smeets CC...Hokken-Koelega AC
|
27007691 |
2016 |
| 22 |
New developments in Silver-Russell syndrome and implications for clinical practice.
61
|
Ishida M
|
27066913 |
2016 |
| 23 |
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.
61
|
Marques B...Correia H
|
27924152 |
2016 |
| 24 |
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
61
|
De Crescenzo A...Riccio A
|
25809938 |
2015 |
| 25 |
Genome-wide methylation analysis in Silver-Russell syndrome patients.
61
|
Prickett AR...Oakey RJ
|
25563730 |
2015 |
| 26 |
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
61
|
Abdelhedi F...Dupont JM
|
25015868 |
2014 |
| 27 |
[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012].
61
|
Galaz-Montoya CI...Moran-Barroso VF
|
29421254 |
2014 |
| 28 |
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
61
|
Neocleous V...Phylactou LA
|
24649380 |
2014 |
| 29 |
Copy number variants in short children born small for gestational age.
61
|
Wit JM...Ruivenkamp CA
|
25300501 |
2014 |
| 30 |
Myoclonus.
61
|
Espay AJ...Chen R
|
24092290 |
2013 |
| 31 |
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
61
|
Sheridan MB...Batista DA
|
23237735 |
2013 |
| 32 |
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
61
|
Ghanim M...Vincent-Delorme C
|
23401077 |
2013 |
| 33 |
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH.
61
|
Binder G...Schweizer R
|
24051620 |
2013 |
| 34 |
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.
61
|
Karaca E...Ozkinay F
|
23429302 |
2012 |
| 35 |
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
61
|
Behnecke A...Moog U
|
21954990 |
2012 |
| 36 |
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
61
|
Eggermann T...Elbracht M
|
22702363 |
2012 |
| 37 |
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
61
|
Petit F...Delobel B
|
21204802 |
2012 |
| 38 |
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.
61
|
Vardi O...Lev D
|
21752678 |
2012 |
| 39 |
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
61
|
Okada T...Aggerbeck LP
|
22104167 |
2011 |
| 40 |
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.
61
|
Spengler S...Eggermann T
|
21612428 |
2011 |
| 41 |
Silver-Russell syndrome.
61
|
Binder G...Kannenberg K
|
21396582 |
2011 |
| 42 |
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
61
|
Bruce S...Kere J
|
19752157 |
2010 |
| 43 |
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
61
|
Stark Z...Savarirayan R
|
20684011 |
2010 |
| 44 |
Russell-Silver syndrome.
61
|
Eggermann T
|
20803658 |
2010 |
| 45 |
Silver-Russell syndrome: genetic basis and molecular genetic testing.
61
|
Eggermann T...Spengler S
|
20573229 |
2010 |
| 46 |
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.
61
|
Spengler S...Eggermann T
|
19762329 |
2010 |
| 47 |
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
61
|
Horike S...Weksberg R
|
19876907 |
2009 |
| 48 |
LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.
61
|
Jager S...Eggermann T
|
19694203 |
2009 |
| 49 |
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
61
|
Eggermann T...Schonherr N
|
19364767 |
2009 |
| 50 |
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
61
|
Eggermann T
|
19407494 |
2009 |
