340 related articles for article (PubMed ID: 19762329)
1. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.
Spengler S; Schönherr N; Binder G; Wollmann HA; Fricke-Otto S; Mühlenberg R; Denecke B; Baudis M; Eggermann T
J Med Genet; 2010 May; 47(5):356-60. PubMed ID: 19762329
[TBL] [Abstract][Full Text] [Related]
2. Genetic and epigenetic findings in Silver-Russell syndrome.
Eggermann T; Begemann M; Spengler S; Schröder C; Kordass U; Binder G
Pediatr Endocrinol Rev; 2010 Dec; 8(2):86-93. PubMed ID: 21150838
[TBL] [Abstract][Full Text] [Related]
3. Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet; 2010 Aug; 154C(3):355-64. PubMed ID: 20803658
[TBL] [Abstract][Full Text] [Related]
4. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
Eggermann T; Meyer E; Obermann C; Heil I; Schüler H; Ranke MB; Eggermann K; Wollmann HA
J Med Genet; 2005 May; 42(5):e26. PubMed ID: 15863658
[TBL] [Abstract][Full Text] [Related]
5. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F; Hermanns P; Giovannucci-Uzielli ML; Galluzzi F; Scott D; Lee B; Renieri A; Unger S; Zabel B; Superti-Furga A
Eur J Hum Genet; 2009 Sep; 17(9):1141-7. PubMed ID: 19277063
[TBL] [Abstract][Full Text] [Related]
6. Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
Spengler S; Begemann M; Ortiz Brüchle N; Baudis M; Denecke B; Kroisel PM; Oehl-Jaschkowitz B; Schulze B; Raabe-Meyer G; Spaich C; Blümel P; Jauch A; Moog U; Zerres K; Eggermann T
J Pediatr; 2012 Nov; 161(5):933-42. PubMed ID: 22683032
[TBL] [Abstract][Full Text] [Related]
7. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
Eggermann T; Gonzalez D; Spengler S; Arslan-Kirchner M; Binder G; Schönherr N
Pediatrics; 2009 May; 123(5):e929-31. PubMed ID: 19364767
[TBL] [Abstract][Full Text] [Related]
8. Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann T; Spengler S; Gogiel M; Begemann M; Elbracht M
Expert Rev Mol Diagn; 2012 Jun; 12(5):459-71. PubMed ID: 22702363
[TBL] [Abstract][Full Text] [Related]
9. Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
Bruce S; Hannula-Jouppi K; Puoskari M; Fransson I; Simola KO; Lipsanen-Nyman M; Kere J
J Med Genet; 2010 Dec; 47(12):816-22. PubMed ID: 19752157
[TBL] [Abstract][Full Text] [Related]
10. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
Schönherr N; Meyer E; Eggermann K; Ranke MB; Wollmann HA; Eggermann T
Eur J Med Genet; 2006; 49(5):414-8. PubMed ID: 16603426
[TBL] [Abstract][Full Text] [Related]
11. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
Grønskov K; Poole RL; Hahnemann JM; Thomson J; Tümer Z; Brøndum-Nielsen K; Murphy R; Ravn K; Melchior L; Dedic A; Dolmer B; Temple IK; Boonen SE; Mackay DJ
J Med Genet; 2011 May; 48(5):308-11. PubMed ID: 21278389
[TBL] [Abstract][Full Text] [Related]
12. Silver-Russell syndrome.
Wakeling EL
Arch Dis Child; 2011 Dec; 96(12):1156-61. PubMed ID: 21349887
[TBL] [Abstract][Full Text] [Related]
13. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
Eggermann T; Schönherr N; Eggermann K; Buiting K; Ranke MB; Wollmann HA; Binder G
Clin Genet; 2008 Jan; 73(1):79-84. PubMed ID: 18070127
[TBL] [Abstract][Full Text] [Related]
14. 12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
Takenouchi T; Enomoto K; Nishida T; Torii C; Okazaki T; Takahashi T; Kosaki K
Am J Med Genet A; 2012 Oct; 158A(10):2542-4. PubMed ID: 22887875
[TBL] [Abstract][Full Text] [Related]
15. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
Bullman H; Lever M; Robinson DO; Mackay DJ; Holder SE; Wakeling EL
J Med Genet; 2008 Jun; 45(6):396-9. PubMed ID: 18474587
[TBL] [Abstract][Full Text] [Related]
16. NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J; Meyer R; Fekete G; Spranger S; Matulevičienė A; Kučinskas V; Bach A; Luczay A; Brüchle NO; Eggermann K; Zerres K; Elbracht M; Eggermann T
Clin Genet; 2017 Jan; 91(1):73-78. PubMed ID: 27172843
[TBL] [Abstract][Full Text] [Related]
17. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Heldt F; Wallaschek H; Ripperger T; Morlot S; Illig T; Eggermann T; Schlegelberger B; Scholz C; Steinemann D
Eur J Med Genet; 2018 Aug; 61(8):421-427. PubMed ID: 29501611
[TBL] [Abstract][Full Text] [Related]
18. The genetic aetiology of Silver-Russell syndrome.
Abu-Amero S; Monk D; Frost J; Preece M; Stanier P; Moore GE
J Med Genet; 2008 Apr; 45(4):193-9. PubMed ID: 18156438
[TBL] [Abstract][Full Text] [Related]
19. Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
Fokstuen S; Kotzot D
Am J Med Genet A; 2014 Jun; 164A(6):1595-605. PubMed ID: 24664587
[TBL] [Abstract][Full Text] [Related]
20. [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
Mergenthaler S; Dobos M; Wollmann H; Eggermann K; Schwanitz G; Eggermann T
Orv Hetil; 2001 Jul; 142(29):1561-4. PubMed ID: 11494748
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]