Literature DB >> 10756351

Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7.

U Hehr, S Dörr, M Hagemann, I Hansmann, U Preiss, S Brömme.   

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Year:  2000        PMID: 10756351     DOI: 10.1002/(sici)1096-8628(20000320)91:3<237::aid-ajmg17>3.0.co;2-8

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  10 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

Review 2.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

3.  Diagnostic proceeding in Silver-Russell syndrome.

Authors:  Thomas Eggermann; Esther Meyer; Michael B Ranke; Martin Holder; Stefanie Spranger; Klaus Zerres; Hartmut A Wollmann
Journal:  Mol Diagn       Date:  2005

4.  The ratio of maternal to paternal UPD associated with recessive diseases.

Authors:  Angela M Vianna-Morgante
Journal:  Hum Genet       Date:  2005-05-14       Impact factor: 4.132

5.  Growth parameters in maternal uniparental disomy 7 and 14.

Authors:  Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2007-01-04       Impact factor: 3.183

6.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

Review 7.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Authors:  Joel Zlotogora
Journal:  Hum Genet       Date:  2004-03-16       Impact factor: 4.132

8.  Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Authors:  Marvin Ziegler; Bianca E Russell; Kathrin Eberhardt; Gregory Geisel; Angelica D'Amore; Mustafa Sahin; Harley I Kornblum; Darius Ebrahimi-Fakhari
Journal:  Neurol Genet       Date:  2020-12-29

9.  First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

Authors:  Emin Karaca; Beyhan Tuysuz; Sacide Pehlivan; Ferda Ozkinay
Journal:  Iran J Pediatr       Date:  2012-12       Impact factor: 0.364

10.  Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.

Authors:  Lonneke C Gerbrands; Eric G Haarman; Margot A Hankel; Martijn J J Finken
Journal:  Clin Case Rep       Date:  2017-09-08
  10 in total

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