Literature DB >> 3656376

The London Dysmorphology Database.

R M Winter, M Baraitser.   

Abstract

Mesh：

Year:  1987        PMID： 3656376      PMCID： PMC1050214          DOI： 10.1136/jmg.24.8.509

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


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  2 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  A chromosome supplement to the London Dysmorphology Database.

Authors:  J Brandl; T Grimm
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318
  2 in total
  15 in total

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2.  The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Authors:  Saskia M J Hopman; Johannes H M Merks; Corianne A J M de Borgie; Cora M Aalfs; Leslie G Biesecker; Trevor Cole; Charis Eng; Eric Legius; Eamonn R Maher; Max M van Noesel; Alain Verloes; David H Viskochil; Anja Wagner; Rosanna Weksberg; Huib N Caron; Raoul C M Hennekam
Journal:  Eur J Cancer       Date:  2013-07-12       Impact factor: 9.162

3.  Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.

Authors:  Alejandro Sifrim; Jeroen Kj Van Houdt; Leon-Charles Tranchevent; Beata Nowakowska; Ryo Sakai; Georgios A Pavlopoulos; Koen Devriendt; Joris R Vermeesch; Yves Moreau; Jan Aerts
Journal:  Genome Med       Date:  2012-09-26       Impact factor: 11.117

4.  The biological coherence of human phenome databases.

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Authors:  Nicole de Leeuw; Trijnie Dijkhuizen; Jayne Y Hehir-Kwa; Nigel P Carter; Lars Feuk; Helen V Firth; Robert M Kuhn; David H Ledbetter; Christa Lese Martin; Conny M A van Ravenswaaij-Arts; Steven W Scherer; Soheil Shams; Steven Van Vooren; Rolf Sijmons; Morris Swertz; Ros Hastings
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Review 6.  DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Authors:  Ganesh J Swaminathan; Eugene Bragin; Eleni A Chatzimichali; Manuel Corpas; A Paul Bevan; Caroline F Wright; Nigel P Carter; Matthew E Hurles; Helen V Firth
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7.  The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

Authors:  L I al-Gazali; A H Dawodu; K Sabarinathan; M Varghese
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8.  A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

Authors:  Karina Lezirovitz; Sylvia Regina Pedrosa Maestrelli; Nelson Henderson Cotrim; Paulo A Otto; Peter L Pearson; Regina Celia Mingroni-Netto
Journal:  Hum Genet       Date:  2008-05-21       Impact factor: 4.132

9.  Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Authors:  L I al-Gazali; D Donnai; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 10.  Understanding craniosynostosis as a growth disorder.

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Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2016-03-22       Impact factor: 5.814
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