125 related articles for article (PubMed ID: 30039337)
1. Genetic Analysis and Clinical Presentation in Silver Russell Syndrome.
Lohiya N; Lote-Oke R; Agarwal M; Phadke N; Khadilkar V; Khadilkar A
Indian J Pediatr; 2018 Dec; 85(12):1141-1142. PubMed ID: 30039337
[No Abstract] [Full Text] [Related]
2. Zespół Silvera-Rusella. Część II.
Kalina MA; Tańska A; Marczak-Hałupka A; Chrzanowska KH
Pediatr Endocrinol Diabetes Metab; 2016 Jun; 21(3):132-42. PubMed ID: 27275769
[TBL] [Abstract][Full Text] [Related]
3. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.
Dias RP; Nightingale P; Hardy C; Kirby G; Tee L; Price S; Macdonald F; Barrett TG; Maher ER
J Med Genet; 2013 Sep; 50(9):635-9. PubMed ID: 23812911
[TBL] [Abstract][Full Text] [Related]
4. Temple syndrome misdiagnosed as Silver-Russell syndrome.
Luk HM
Clin Dysmorphol; 2016 Apr; 25(2):82-3. PubMed ID: 26862943
[No Abstract] [Full Text] [Related]
5. 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]
6. Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.
Wikiera B; Nocoń-Bohusz J; Noczyńska A
Pediatr Endocrinol Diabetes Metab; 2022; 28(4):301-304. PubMed ID: 36734391
[TBL] [Abstract][Full Text] [Related]
7. Epigenetic signatures of Silver-Russell syndrome.
Abu-Amero S; Wakeling EL; Preece M; Whittaker J; Stanier P; Moore GE
J Med Genet; 2010 Mar; 47(3):150-4. PubMed ID: 20305090
[No Abstract] [Full Text] [Related]
8. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
[TBL] [Abstract][Full Text] [Related]
9. Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.
Dateki S; Kagami M; Matsubara K; Izumi K; Watanabe S; Nakatomi A; Kondoh T; Fukami M; Moriuchi H
J Hum Genet; 2017 Oct; 62(10):919-922. PubMed ID: 28592837
[TBL] [Abstract][Full Text] [Related]
10. Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.
Ventresca S; Lepri FR; Criscuolo S; Bottaro G; Novelli A; Loche S; Cappa M
Front Endocrinol (Lausanne); 2024; 15():1364234. PubMed ID: 38596219
[TBL] [Abstract][Full Text] [Related]
11. Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.
Strong A; McDougall C; Zackai E
Clin Dysmorphol; 2020 Apr; 29(2):118-120. PubMed ID: 31895057
[No Abstract] [Full Text] [Related]
12. Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples.
Gede LB; Hahnemann JM; Tümer Z; Brøndum-Nielsen K; Grønskov K
Prenat Diagn; 2016 Jan; 36(1):100-3. PubMed ID: 26590364
[No Abstract] [Full Text] [Related]
13. Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome.
Kapoor S
J Clin Endocrinol Metab; 2015 Jan; 100(1):L18-9. PubMed ID: 25559542
[No Abstract] [Full Text] [Related]
14. Clinical utility gene card for: Silver-Russell syndrome.
Eggermann T; Buiting K; Temple IK
Eur J Hum Genet; 2011 Mar; 19(3):. PubMed ID: 21150879
[No Abstract] [Full Text] [Related]
15. Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G; Ziegler J; Schweizer R; Habhab W; Haack TB; Heinrich T; Eggermann T
Clin Epigenetics; 2020 Oct; 12(1):152. PubMed ID: 33076988
[TBL] [Abstract][Full Text] [Related]
16. Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
Renes JS; Willemsen RH; Wagner A; Finken MJ; Hokken-Koelega AC
J Clin Endocrinol Metab; 2013 Oct; 98(10):3932-8. PubMed ID: 23928670
[TBL] [Abstract][Full Text] [Related]
17. The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.
Sienko M; Petriczko E; Zajaczek S; Zygmunt-Gorska A; Starzyk J; Korpysz A; Petriczko J; Walczak A; Walczak M
Neuro Endocrinol Lett; 2017 Dec; 38(6):415-421. PubMed ID: 29298282
[TBL] [Abstract][Full Text] [Related]
18. The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
Binder G; Eggermann T; Weber K; Ferrand N; Schweizer R
Horm Res Paediatr; 2017; 88(3-4):201-207. PubMed ID: 28675902
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of clinical and genetic characteristics of 20 cases of children with Silver Russell syndrome].
Zhu MQ; Gong CX; Wu D; Huang SY; Cao BY
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):216-20. PubMed ID: 23751585
[TBL] [Abstract][Full Text] [Related]
20. A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
Goto M; Kagami M; Nishimura G; Yamagata T
Am J Med Genet A; 2016 Sep; 170(9):2483-5. PubMed ID: 27362607
[No Abstract] [Full Text] [Related]
[Next] [New Search]