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Literature DB >> 22391768

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

M Cristina Digilio, Bruno Dallapiccola, Bruno Marino.

Abstract

Entities: Disease

Mesh：

Substances：
Proteins
DNA

Year: 2012 PMID： 22391768 DOI： 10.1007/s00246-012-0270-3

Source DB: PubMed Journal: Pediatr Cardiol ISSN： 0172-0643 Impact factor: 1.655

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16 in total

1. The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

Authors: M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal: Am J Med Genet Date: 1997-01-10

2. Abnormal nodal flow precedes situs inversus in iv and inv mice.

Authors: Y Okada; S Nonaka; Y Tanaka; Y Saijoh; H Hamada; N Hirokawa
Journal: Mol Cell Date: 1999-10 Impact factor: 17.970

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

Authors: M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal: Hum Genet Date: 1995-08 Impact factor: 4.132

4. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence.

Authors: M C Digilio; B Casey; A Toscano; R Calabrò; G Pacileo; M Marasini; E Banaudi; A Giannotti; B Dallapiccola; B Marino
Journal: Circulation Date: 2001-12-04 Impact factor: 29.690

5. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

Authors: M C Digilio; B Marino; A Ammirati; U Borzaga; A Giannotti; B Dallapiccola
Journal: Am J Med Genet Date: 1999-06-04

6. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice.

Authors: D M Supp; D P Witte; S S Potter; M Brueckner
Journal: Nature Date: 1997-10-30 Impact factor: 49.962

Review 7. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Authors: Victor L Ruiz-Perez; Judith A Goodship
Journal: Am J Med Genet C Semin Med Genet Date: 2009-11-15 Impact factor: 3.908

8. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Authors: Pleasantine Mill; Paul J Lockhart; Elizabeth Fitzpatrick; Hayley S Mountford; Emma A Hall; Martin A M Reijns; Margaret Keighren; Melanie Bahlo; Catherine J Bromhead; Peter Budd; Salim Aftimos; Martin B Delatycki; Ravi Savarirayan; Ian J Jackson; David J Amor
Journal: Am J Hum Genet Date: 2011-04-08 Impact factor: 11.025

Review 9. Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.

Authors: Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Journal: Genet Med Date: 2006-08 Impact factor: 8.822

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

1. The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

2. Abnormal nodal flow precedes situs inversus in iv and inv mice.

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

4. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence.

5. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

6. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice.

Review 7. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

8. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Review 9. Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.

10. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

1. Frontiers in pediatric cardiology-specialty grand challenge.

Review 2. Transposition of great arteries: new insights into the pathogenesis.

3. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Review 4. Genetics of atrioventricular canal defects.