메뉴 건너뛰기




Volumn 80, Issue 4, 2012, Pages 86-91

Silver-Russell syndrome in the Netherlands;Het Silver-Russell-syndroom in Nederland

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; HUMAN; INFERTILITY THERAPY; INTRAUTERINE GROWTH RETARDATION; MOLECULAR DIAGNOSIS; NETHERLANDS; OUTCOME ASSESSMENT; SILVER RUSSELL SYNDROME;

EID: 84875181514     PISSN: 03767442     EISSN: 18756840     Source Type: Journal    
DOI: 10.1007/s12456-012-0025-3     Document Type: Article
Times cited : (8)

References (23)
  • 1
    • 78651048074 scopus 로고
    • Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
    • Silver HK, Kiyasu W, George J, et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953;12:368-76.
    • (1953) Pediatrics. , vol.12 , pp. 368-376
    • Silver, H.K.1    Kiyasu, W.2    George, J.3
  • 2
    • 0000771975 scopus 로고
    • A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)
    • Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med. 1954;47:1040-4.
    • (1954) Proc R Soc Med. , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 3
    • 59749088105 scopus 로고    scopus 로고
    • Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies
    • Bruce S, Hannula-Jouppi K, Peltonen J, et al. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab. 2009;94:579-87.
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 579-587
    • Bruce, S.1    Hannula-Jouppi, K.2    Peltonen, J.3
  • 4
    • 66049151670 scopus 로고    scopus 로고
    • Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
    • Eggermann T, Gonzalez D, Spengler S, et al. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics. 2009;123:e929-31.
    • (2009) Pediatrics. , vol.123
    • Eggermann, T.1    Gonzalez, D.2    Spengler, S.3
  • 6
    • 62149105139 scopus 로고    scopus 로고
    • Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-Iike phenotypes
    • Bartholdi D, Krajewska-Walasek M, Ounap K, et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-Iike phenotypes. J Med Genet. 2009;46:192-7.
    • (2009) J Med Genet. , vol.46 , pp. 192-197
    • Bartholdi, D.1    Krajewska-Walasek, M.2    Ounap, K.3
  • 7
    • 62849117124 scopus 로고    scopus 로고
    • Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
    • Alders M, Bliek J, Lip K Van Der, et al. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2009;17:467-73.
    • (2009) Eur J Hum Genet. , vol.17 , pp. 467-473
    • Alders, M.1    Bliek, J.2    Van Der Lip, K.3
  • 8
    • 78149339689 scopus 로고    scopus 로고
    • Epigenotype-phenotype correlations in Silver-Russell syndrome
    • Wakeling E L, Amero SA, Alders M, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet. 2010;47:760-8.
    • (2010) J Med Genet. , vol.47 , pp. 760-768
    • Wakeling, E.L.1    Amero, S.A.2    Alders, M.3
  • 10
    • 78049472121 scopus 로고    scopus 로고
    • Effect of long-term growth hormone treatment on final height of children with Silver-Russell syndrome
    • Toumba M, Albanese A, Azcona C, et al. Effect of long-term growth hormone treatment on final height of children with Silver-Russell syndrome. Horm Res Paediatr. 2010;74:212-7.
    • (2010) Horm Res Paediatr. , vol.74 , pp. 212-217
    • Toumba, M.1    Albanese, A.2    Azcona, C.3
  • 11
    • 84875429391 scopus 로고    scopus 로고
    • IGF-I and IGF binding protein-3 generation tests and response to growth hormone in children with Silver-Russell syndrome
    • Beserra IC, Ribeiro MG, Collett-Solberg PF, et al. IGF-I and IGF binding protein-3 generation tests and response to growth hormone in children with Silver-Russell syndrome. Int J Pediatr Endocrinol. 2010;546854.
    • (2010) Int J Pediatr Endocrinol. , pp. 546854
    • Beserra, I.C.1    Ribeiro, M.G.2    Collett-Solberg, P.F.3
  • 13
    • 50549093173 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 and Silver-Russell syndrome clinical update and comparison with other subgroups
    • Kotzot D. Maternal uniparental disomy 7 and Silver-Russell syndrome clinical update and comparison with other subgroups. Eur J Med Genet. 2008;51:444-51.
    • (2008) Eur J Med Genet. , vol.51 , pp. 444-451
    • Kotzot, D.1
  • 16
    • 0032758850 scopus 로고    scopus 로고
    • The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garret C, et al. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet. 1999;36:837-42. (Pubitemid 29520574)
    • (1999) Journal of Medical Genetics , vol.36 , Issue.11 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3    Preece, M.A.4    Trembath, R.C.5
  • 17
    • 81255187962 scopus 로고    scopus 로고
    • Silver-Russell syndrome
    • Wakeling EL. Silver-Russell syndrome. Arch Dis Child. 2011;96:1156-61.
    • (2011) Arch Dis Child. , vol.96 , pp. 1156-1161
    • Wakeling, E.L.1
  • 18
    • 42449153796 scopus 로고    scopus 로고
    • A female infant with Silver Russell syndrome, mesocardia and enlargement of the clitoris
    • Galli-Tsinopoulou A, Emmanouilidou E, Karagianni P, et al. A female infant with Silver Russell syndrome, mesocardia and enlargement of the clitoris. Hormones (Athens). 2008;7:77-81.
    • (2008) Hormones (Athens). , vol.7 , pp. 77-81
    • Galli-Tsinopoulou, A.1    Emmanouilidou, E.2    Karagianni, P.3
  • 20
    • 77957790511 scopus 로고    scopus 로고
    • Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmatic sperm injection
    • Chopra M, Amor DJ, Sutton L, et al. Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmatic sperm injection. Reprod Biomed Online. 2010;20:843-7.
    • (2010) Reprod Biomed Online. , vol.20 , pp. 843-847
    • Chopra, M.1    Amor, D.J.2    Sutton, L.3
  • 21
    • 77952740941 scopus 로고    scopus 로고
    • Epigenetics, genomic imprinting and assisted reproductive technology
    • Le Bouc Y, Rossignol S, Azzi S, et al. Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol. 2010;71:237-8.
    • (2010) Ann Endocrinol. , vol.71 , pp. 237-238
    • Le Bouc, Y.1    Rossignol, S.2    Azzi, S.3
  • 22
    • 17444391320 scopus 로고    scopus 로고
    • Imprinting and assisted reproductive technology
    • Maher ER. Imprinting and assisted reproductive technology. Hum Mol Genet. 2005;14:133-8.
    • (2005) Hum Mol Genet. , vol.14 , pp. 133-138
    • Maher, E.R.1
  • 23
    • 18744381061 scopus 로고    scopus 로고
    • Imprinting diseases and IVF: Danish National IVF cohort study
    • DOI 10.1093/humrep/deh714
    • Lidegaard O, Pinborg A, Andersen AN. Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod. 2005;20:950-4. (Pubitemid 40674198)
    • (2005) Human Reproduction , vol.20 , Issue.4 , pp. 950-954
    • Lidegaard, O.1    Pinborg, A.2    Andersen, A.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.