Literature DB >> 8151638

Ascertainment and severity of Marfan syndrome in a Scottish population.

J R Gray1, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, M Boxer.   

Abstract

This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.

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Year:  1994        PMID： 8151638      PMCID： PMC1049599          DOI： 10.1136/jmg.31.1.51

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


  14 in total

1.  Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors:  J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

2.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Authors:  S M Huson; D A Compston; P Clark; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  The Marfan syndrome.

Authors:  R E Pyeritz
Journal:  Am Fam Physician       Date:  1986-12       Impact factor: 3.292

Review 4.  The Marfan syndrome: diagnosis and management.

Authors:  R E Pyeritz; V A McKusick
Journal:  N Engl J Med       Date:  1979-04-05       Impact factor: 91.245

5.  A new simplified method for estimating relative fitness in man.

Authors:  K Tanaka
Journal:  Jinrui Idengaku Zasshi       Date:  1974-12

6.  Parental age effects on the occurrence of new mutations for the Marfan syndrome.

Authors:  J L Murdoch; B A Walker; V A McKusick
Journal:  Ann Hum Genet       Date:  1972-03       Impact factor: 1.670

7.  Clinical variability in the Marfan syndrome(s).

Authors:  R E Pyeritz; E A Murphy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1979

Review 8.  Mitral valve prolapse: causes, clinical manifestations, and management.

Authors:  R B Devereux; R Kramer-Fox; P Kligfield
Journal:  Ann Intern Med       Date:  1989-08-15       Impact factor: 25.391

9.  The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age.

Authors:  H E Sisk; K G Zahka; R E Pyeritz
Journal:  Am J Cardiol       Date:  1983-08       Impact factor: 2.778

10.  Two-dimensional echocardiographic aortic root dimensions in normal children and adults.

Authors:  M J Roman; R B Devereux; R Kramer-Fox; J O'Loughlin
Journal:  Am J Cardiol       Date:  1989-09-01       Impact factor: 2.778
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  28 in total

1.  Periosteal osteosarcoma and Marfan's syndrome: A case report and literature review.

Authors:  Guo-Ping Xie; Hui-Juan Song; Nan Jiang; Cheng-He Qin; Lei Wang; Shao-Yong Xu; Bin Yu
Journal:  Oncol Lett       Date:  2015-11-05       Impact factor: 2.967

Review 2.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  Marfan's syndrome.

Authors:  Daniel P Judge; Harry C Dietz
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

Review 4.  Marfan syndrome.

Authors:  J R Gray; S J Davies
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

5.  Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.

Authors:  Linnea M Baudhuin; Michelle L Kluge; Katrina E Kotzer; Susan A Lagerstedt
Journal:  Eur J Hum Genet       Date:  2019-06-21       Impact factor: 4.246

6.  The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.

Authors:  K J Potter; S Creighton; L Armstrong; P Eydoux; W Duncan; D J Penny; Y Fan; W T Gibson
Journal:  Mol Syndromol       Date:  2013-02-28

7.  Anesthetic management of a child with both Marfan syndrome and Turner syndrome.

Authors:  Dilşen Ornek; Gözde Bumin Aydın; Kadriye Kahveci; Fatma Ciçek; Bayazıt Dikmen
Journal:  J Anesth       Date:  2012-02-15       Impact factor: 2.078

8.  Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.

Authors:  Svend Rand-Hendriksen; Rigmor Lundby; Lena Tjeldhorn; Kai Andersen; Jon Offstad; Svein Ove Semb; Hans-Jørgen Smith; Benedicte Paus; Odd Geiran
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

9.  Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

Authors:  Daniel P Judge; Nancy J Biery; Douglas R Keene; Jessica Geubtner; Loretha Myers; David L Huso; Lynn Y Sakai; Harry C Dietz
Journal:  J Clin Invest       Date:  2004-07       Impact factor: 14.808

10.  A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.

Authors:  Bruno L Lima; Enrico J C Santos; Gustavo R Fernandes; Christian Merkel; Marco R B Mello; Juliana P A Gomes; Marina Soukoyan; Alexandre Kerkis; Silvia M G Massironi; José A Visintin; Lygia V Pereira
Journal:  PLoS One       Date:  2010-11-30       Impact factor: 3.240
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