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Mark Consugar

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Katharina Hopp; Priyanka Patel; Shail Patel; Sandro Rossetti; Jamie L Sundsbak; Vicente E Torres; Mark B Consugar; Peter G Czarnecki; Troy J Gliem; Susan A Henke; Christina M Heyer; Cynthia J Hommerding; Peter C Harris
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Brian G Mohney; Jose S Pulido; Noralane M Lindor; Marie C Hogan; Mark B Consugar; Justin Peters; V Shane Pankratz; Samih H Nasr; Stephen J Smith; James Gloor; Vickie Kubly; Dorothy Spencer; Rebecca Nielson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton; Lama Eldahdah; Peter C Harris
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Sandro Rossetti; Vickie Kubly; Mark B Consugar; Katharina Hopp; Sushmita Roy; Sharon W Horsley; Dominique Chauveau; Lesley Rees; T Martin Barratt; William G Van't Hoff; Patrick Niaudet; W Patrick Niaudet; Vicente E Torres; Peter C Harris
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

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All Publications

2011: Katharina Hopp; Priyanka Patel; Shail Patel; Sandro Rossetti; Jamie L Sundsbak; Vicente E Torres; Mark B Consugar; Peter G Czarnecki; Troy J Gliem; Susan A Henke; Christina M Heyer; Cynthia J Hommerding; Peter C Harris
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Human molecular genetics 2011;20(13):2524-34.
2011: Brian G Mohney; Jose S Pulido; Noralane M Lindor; Marie C Hogan; Mark B Consugar; Justin Peters; V Shane Pankratz; Samih H Nasr; Stephen J Smith; James Gloor; Vickie Kubly; Dorothy Spencer; Rebecca Nielson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton; Lama Eldahdah; Peter C Harris
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Ophthalmology 2011;118(6):1137-44.
2009: Sandro Rossetti; Vickie Kubly; Mark B Consugar; Katharina Hopp; Sushmita Roy; Sharon W Horsley; Dominique Chauveau; Lesley Rees; T Martin Barratt; William G Van't Hoff; Patrick Niaudet; W Patrick Niaudet; Vicente E Torres; Peter C Harris
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney international 2009;75(8):848-55.
2008: Mark B Consugar; Wai C Wong; Patrick A Lundquist; Sandro Rossetti; Vickie Kubly; Denise L Walker; Laureano J Rangel; Richard Aspinwall; W Patrick Niaudet; Seza Ozen; Albert David; Milen Velinov; Erik J Bergstralh; Kyongtae T Bae; Arlene B Chapman; Lisa M Guay-Woodford; Jared J Grantham; Vicente E Torres; Julian R Sampson; Brian D Dawson; Peter C Harris
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Kidney international 2008;74(11):1468-79.
2007: Sandro Rossetti; Mark B Consugar; Arlene B Chapman; Vicente E Torres; Lisa M Guay-Woodford; Jared J Grantham; William M Bennett; Catherine M Meyers; Denise L Walker; Kyongtae Bae; Qin Jean Zhang; Paul Thompson; Philip Miller; Peter C Harris
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 2007;18(7):2143-60.
2007: Mark B Consugar; Vickie J Kubly; Donna J Lager; Cynthia J Hommerding; Wai Chong Wong; Egbert Bakker; Vincent H Gattone; Vicente E Torres; Martijn H Breuning; Peter C Harris
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Human genetics 2007;121(5):591-9.
2006: Peter C Harris; Kyongtae T Bae; Sandro Rossetti; Vicente E Torres; Jared J Grantham; Arlene B Chapman; Lisa M Guay-Woodford; Bernard F King; Louis H Wetzel; Deborah A Baumgarten; Philip J Kenney; Mark B Consugar; Saulo Klahr; William M Bennett; Catherine M Meyers; Qin Jean Zhang; Paul Thompson; Fang Zhu; Philip Miller
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 2006;17(11):3013-9.
2006: Surya M Nauli; Sandro Rossetti; Robert J Kolb; Francis J Alenghat; Mark B Consugar; Peter C Harris; Donald Ingber; Mahmoud Loghman-Adham; Jing Zhou
Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.
Journal of the American Society of Nephrology : JASN 2006;17(4):1015-25.
2006: Magdalena Adeva; Mounif El-Youssef; Sandro Rossetti; Patrick S Kamath; Vickie Kubly; Mark B Consugar; Dawn M Milliner; Bernard F King; Vicente E Torres; Peter C Harris
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Medicine 2006;85(1):1-21.
2005: Na Young Oh; Mi Sook Seo; Mi Hee Lim; Mark B Consugar; Mi Joo Park; Jan-Uwe Rohde; Jaehong Han; Kwan Mook Kim; Jinheung Kim; Lawrence Que; Wonwoo Nam
Self-hydroxylation of perbenzoic acids at a nonheme iron(II) center.
Chemical communications (Cambridge, England) 2005;(45):5644-6.
2005: Mark B Consugar; Sarah A Anderson; Sandro Rossetti; V Shane Pankratz; Christopher J Ward; Roser Torra; Eliecer Coto; Mounif El-Youssef; Sibel Kantarci; Boris Utsch; Friedhelm Hildebrandt; William E Sweeney; Ellis D Avner; Vicente E Torres; Julie M Cunningham; Peter C Harris
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2005;45(1):77-87.
2003: Sandro Rossetti; Roser Torra; Eliecer Coto; Mark B Consugar; Vickie Kubly; Serafín Málaga; Mercedes Navarro; Mounif El-Youssef; Vicente E Torres; Peter C Harris
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Kidney international 2003;64(2):391-403.
2003: Denise Walker; Mark B Consugar; Jeff Slezak; Sandro Rossetti; Vicente E Torres; Christopher G Winearls; Peter C Harris
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2003;41(1):90-4.