Literature DB >> 17400796

Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.

Thomas Eggermann, Nadine Schönherr, Katja Eggermann, Hartmut Wollmann.   

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Year:  2007        PMID： 17400796      PMCID： PMC2598037          DOI： 10.1136/jmg.2007.049130

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

2.  Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q.

Authors:  M P Hitchins; S Abu-Amero; S Apostolidou; D Monk; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

3.  Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25.

Authors:  A T Midro; K Debek; A Sawicka; D Marcinkiewicz; M Rogowska
Journal:  Clin Genet       Date:  1993-07       Impact factor: 4.438

4.  Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.

Authors:  S N Dörr; M N Schlicker; I N Hansmann
Journal:  Hum Genet       Date:  2001-10-03       Impact factor: 4.132

5.  Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

Authors:  M L Ramírez-Dueñas; C Medina; R Ocampo-Campos; H Rivera
Journal:  Clin Genet       Date:  1992-01       Impact factor: 4.438

6.  Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Authors:  T Eggermann; K Eggermann; S Mergenthaler; R Kuner; P Kaiser; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

7.  (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Authors:  N Schönherr; E Meyer; K Eggermann; M B Ranke; H A Wollmann; T Eggermann
Journal:  Eur J Med Genet       Date:  2006-03-29       Impact factor: 2.708

8.  Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.

Authors:  T Eggermann; N Schönherr; E Meyer; C Obermann; M Mavany; K Eggermann; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  2005-10-19       Impact factor: 6.318

9.  Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.

Authors:  Sebastian Prager; Hartmut A Wollmann; Susanne Mergenthaler; Miriam Mavany; Katja Eggermann; Michael B Ranke; Thomas Eggermann
Journal:  Genet Test       Date:  2003
  9 in total
  2 in total

Review 1.  Silver-Russell syndrome: genetic basis and molecular genetic testing.

Authors:  Thomas Eggermann; Matthias Begemann; Gerhard Binder; Sabrina Spengler
Journal:  Orphanet J Rare Dis       Date:  2010-06-23       Impact factor: 4.123

2.  A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response.

Authors:  Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Ilija Kirovski
Journal:  J Genet       Date:  2009-08       Impact factor: 1.166
  2 in total

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