Literature DB >> 12920096

Further support for digenic inheritance in Bardet-Biedl syndrome.

S Fauser1, M Munz, D Besch.   

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Year:  2003        PMID： 12920096      PMCID： PMC1735558          DOI： 10.1136/jmg.40.8.e104

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


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  17 in total

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Authors:  Jillian T Huang; John R Heckenlively; K Thiran Jayasundera; Kari E Branham
Journal:  J Genet Couns       Date:  2014-01-08       Impact factor: 2.537

2.  Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Authors:  Sabine Janssen; Gokul Ramaswami; Erica E Davis; Toby Hurd; Rannar Airik; Jennifer M Kasanuki; Lauren Van Der Kraak; Susan J Allen; Philip L Beales; Nicholas Katsanis; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Hum Genet       Date:  2010-10-30       Impact factor: 4.132

Review 3.  Bardet-Biedl Syndrome.

Authors:  Evgeny N Suspitsin; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2016-04-15

4.  Understanding mutational effects in digenic diseases.

Authors:  Andrea Gazzo; Daniele Raimondi; Dorien Daneels; Yves Moreau; Guillaume Smits; Sonia Van Dooren; Tom Lenaerts
Journal:  Nucleic Acids Res       Date:  2017-09-06       Impact factor: 16.971

5.  Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.

Authors:  W Grant Ludlam; Takuma Aoba; Jorge Cuéllar; M Teresa Bueno-Carrasco; Aman Makaju; James D Moody; Sarah Franklin; José M Valpuesta; Barry M Willardson
Journal:  J Biol Chem       Date:  2019-09-17       Impact factor: 5.157

6.  Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Authors:  Jianjun Chen; Nizar Smaoui; Monia Ben Hamed Hammer; Xiaodong Jiao; S Amer Riazuddin; Shyana Harper; Nicholas Katsanis; Sheikh Riazuddin; Habiba Chaabouni; Eliot L Berson; J Fielding Hejtmancik
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7.  Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.

Authors:  Keiko Miyadera; Kumiko Kato; Mike Boursnell; Cathryn S Mellersh; David R Sargan
Journal:  Mamm Genome       Date:  2011-12-23       Impact factor: 2.957

Review 8.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

9.  NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Authors:  Christian Thiel; Kristin Kessler; Andreas Giessl; Arno Dimmler; Stavit A Shalev; Sigrun von der Haar; Martin Zenker; Diana Zahnleiter; Hartmut Stöss; Ernst Beinder; Rami Abou Jamra; Arif B Ekici; Nadja Schröder-Kress; Thomas Aigner; Thomas Kirchner; André Reis; Johann H Brandstätter; Anita Rauch
Journal:  Am J Hum Genet       Date:  2011-01-07       Impact factor: 11.025

Review 10.  Rare-variant collapsing analyses for complex traits: guidelines and applications.

Authors:  Gundula Povysil; Slavé Petrovski; Joseph Hostyk; Vimla Aggarwal; Andrew S Allen; David B Goldstein
Journal:  Nat Rev Genet       Date:  2019-10-11       Impact factor: 53.242
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