Literature DB >> 7635486

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.

M C Digilio, B Marino, A Giannotti, B Dallapiccola.   

Abstract

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Year:  1995        PMID： 7635486     DOI： 10.1007/bf00207395

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  4 in total

1.  Oral manifestations of chondroectodermal dysplasia (Ellis-Van Creveld Syndrome). Report of a case.

Authors:  G B Winter; M Geddes
Journal:  Br Dent J       Date:  1967-02-07       Impact factor: 1.626

2.  [Ellis-Van Creveld syndrome with cardiac involvement (common atrium, persistence of the left superior vena cava and atresia of the coronary sinus)].

Authors:  F García Gallego; S Pascual Marcos; J M Oliver; I Plaza; J A Pérez De Lema; F Carretero; M Gil Aguado; N Sobrino; L Nuñez; J L Villalobos
Journal:  Rev Esp Cardiol       Date:  1981       Impact factor: 4.753

3.  Post-axial hexodactily and single atrium: a new syndrome?

Authors:  T Onat
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

4.  Polysplenia: a review of 146 cases.

Authors:  W M Peoples; J H Moller; J E Edwards
Journal:  Pediatr Cardiol       Date:  1983 Apr-Jun       Impact factor: 1.655
  4 in total
  8 in total

1.  Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.

Authors:  M Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Journal:  Pediatr Cardiol       Date:  2012-03-06       Impact factor: 1.655

2.  Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  Pediatr Cardiol       Date:  1997 Jan-Feb       Impact factor: 1.655

3.  Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Authors:  Stuart W J Tompson; Victor L Ruiz-Perez; Helen J Blair; Stephanie Barton; Victoria Navarro; Joanne L Robson; Michael J Wright; Judith A Goodship
Journal:  Hum Genet       Date:  2006-09-21       Impact factor: 4.132

4.  Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Authors:  Roxann G Ingersoll; Jacqueline Hetmanski; Ji-Wan Park; M Daniele Fallin; Iain McIntosh; Yah-Huei Wu-Chou; Philip K Chen; Vincent Yeow; Samuel S Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Wang Jabs; Richard Redett; Gerald Raymond; Alan F Scott; Terri H Beaty
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

5.  Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

6.  Well-Tolerated and Undiscovered Common Atrium until Late Adulthood.

Authors:  Kyungjoong Kim; Jiwook Choi; Youngjae Doo; Yeong Seop Yun; Jongwook Kim; Jae Beom Lee
Journal:  J Cardiovasc Ultrasound       Date:  2016-09-26

7.  Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Authors:  Hakan Ulucan; Davut Gül; Julie C Sapp; John Cockerham; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2008-10-23       Impact factor: 2.103

Review 8.  Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Authors:  Giulio Calcagni; Flaminia Pugnaloni; Maria Cristina Digilio; Marta Unolt; Carolina Putotto; Marcello Niceta; Anwar Baban; Francesca Piceci Sparascio; Fabrizio Drago; Alessandro De Luca; Marco Tartaglia; Bruno Marino; Paolo Versacci
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096
  8 in total

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