Literature DB >> 639337

Phenotypic and genetic analysis of the silver-Russell syndrome.

V Escobar, S Gleiser, D D Weaver.   

Abstract

A family is reported in which two half-siblings present clinical findings suggestive of the Silver-Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.

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Year:  1978        PMID: 639337     DOI: 10.1111/j.1399-0004.1978.tb01182.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  12 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.  [Child language development delay in craniofacial dysplasia].

Authors:  C Schwemmle; K Lüerssen; R Tolloczko; M Ptok
Journal:  HNO       Date:  2004-02       Impact factor: 1.284

Review 3.  Russell-Silver syndrome.

Authors:  M A Patton
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

4.  The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.

Authors:  S M Price; R Stanhope; C Garrett; M A Preece; R C Trembath
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

5.  Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW).

Authors:  Y Rakover; S Dietsch; G R Ambler; C Chock; M Thomsett; C T Cowell
Journal:  Eur J Pediatr       Date:  1996-10       Impact factor: 3.183

6.  A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

Authors:  K Hannula; M Lipsanen-Nyman; T Kontiokari; J Kere
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

7.  Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.

Authors:  H A Wollmann; T Kirchner; H Enders; M A Preece; M B Ranke
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

8.  Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

Authors:  G N Wilson; S E Sauder; M Bush; I Z Beitins
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

9.  Mulibrey nanism: clinical features and diagnostic criteria.

Authors:  N Karlberg; H Jalanko; J Perheentupa; M Lipsanen-Nyman
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

10.  Russell Silver syndrome and tethered spinal cord.

Authors:  R Shane Tubbs; John C Wellons; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2004-05-19       Impact factor: 1.475

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