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Suzanne Hart

Research Profile

Disorders

Physiology

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Chemicals & Drugs

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DNA Mutational Analysis

Genes & Molecular Sequences

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Dental Enamels

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Publications

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Pranoot Tanpaiboon; Dina J Zand; Patrick F Callahan; P Suzanne Hart; Uta Lichter-Konecki; Dorothea McAreavey; Jennifer L Sloan; Charles P Venditti
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
Ellen Sidransky; P Suzanne Hart
Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers.
Rafael Denadai; Sangwoo Han; Nivaldo Alonso; Débora Bertola; Celso L Buzzo; Thomas Hart; Chong Kim; Cesar A Raposo-Amaral; Cassio E Raposo-Amaral; Rafael F Stelini; P Suzanne Hart
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

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2013: Pranoot Tanpaiboon; Dina J Zand; Patrick F Callahan; P Suzanne Hart; Uta Lichter-Konecki; Dorothea McAreavey; Jennifer L Sloan; Charles P Venditti
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
JIMD reports 2013;10():33-8.
2012: Ellen Sidransky; P Suzanne Hart
Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers.
Neurology 2012;79(1):106-7.
2012: Rafael Denadai; Sangwoo Han; Nivaldo Alonso; Débora Bertola; Celso L Buzzo; Thomas Hart; Chong Kim; Cesar A Raposo-Amaral; Cassio E Raposo-Amaral; Rafael F Stelini; P Suzanne Hart
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
American journal of medical genetics. Part A 2012;158A(4):732-42.
2011: J Timothy Wright; Kimberly Long; Kim Seow; Melody Torain; Michael J Aldred; Peter Crawford; P Suzanne Hart; Thomas Hart
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Cells, tissues, organs 2011;194(2-4):279-83.
2010: Anthony J Bleyer; M Zivná; Helena Hulková; Katerina Hodanová; P Vyletal; Jakub Sikora; J Zivný; J Sovová; Thomas Hart; J N Adams; Milan Elleder; Katja Kapp; R Haws; L D Cornell; Stanislav Kmoch; P Suzanne Hart
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
Clinical nephrology 2010;74(6):411-22.
2010: Anthony J Bleyer; P Suzanne Hart; Stanislav Kmoch
Hereditary interstitial kidney disease.
Seminars in nephrology 2010;30(4):366-73.
2010: Péter Schäffer; Eva Gombos; Krisztina Meichelbeck; András Kiss; P Suzanne Hart; Anthony J Bleyer
Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
Pediatric nephrology (Berlin, Germany) 2010;25(7):1355-60.
2010: Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini T Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
American journal of medical genetics. Part A 2010;152A(6):1474-83.
2009: Dilsah Cogulu; Sema Becerik; Gülnur Emingil; P Suzanne Hart; Thomas Hart
Oral rehabilitation of a patient with amelogenesis imperfecta.
Pediatric dentistry 2009;31(7):523-7.
2009: Martina Zivná; Helena Hůlková; Marie Matignon; Katerina Hodanová; Petr Vylet'al; Marie Kalbácová; Veronika Baresová; Jakub Sikora; Hana Blazková; Jan Zivný; Robert Ivanek; Viktor Stránecký; Jana Sovová; Kathleen Claes; Evelyne Lerut; Jean-Pierre Fryns; P Suzanne Hart; Thomas Hart; Jeremy N Adams; Audrey Pawtowski; Maud Clemessy; Jean-Marie Gasc; Marie-Claire Gübler; Corinne Antignac; Milan Elleder; Katja Kapp; Philippe Grimbert; Anthony J Bleyer; Stanislav Kmoch
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
American journal of human genetics 2009;85(2):204-13.
2009: Thomas Hart; P Suzanne Hart
Genetic studies of craniofacial anomalies: clinical implications and applications.
Orthodontics & craniofacial research 2009;12(3):212-20.
2009: Sema Becerik; Dilsah Cogulu; Gülnur Emingil; Ted Han; P Suzanne Hart; Thomas Hart
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.
American journal of medical genetics. Part A 2009;149A(7):1392-8.
2009: Sun J Choi; Mary L Marazita; P Suzanne Hart; Pawel P Sulima; L Leigh Field; Toby Goldstein McHenry; Manika Govil; Margaret E Cooper; Ariadne Letra; Renato Menezes; Somnya Narayanan; Maria Adela Mansilla; jose granjeiro; Alexandre R Vieira; Andrew C Lidral; Jeffrey C Murray; Thomas Hart
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
European journal of human genetics : EJHG 2009;17(6):774-84.
2009: John Wright; Thomas Hart; P Suzanne Hart; Darrin Simmons; Cynthia Suggs; Bill Daley; Jim Simmer; Jan Hu; John D Bartlett; Yong Li; Zhi-An Yuan; Kim Seow; Carolyn W Gibson
Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
Cells, tissues, organs 2009;189(1-4):224-9.
2008: D A McKnight; James P Simmer; P Suzanne Hart; Thomas Hart; Larry W Fisher
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.
Journal of dental research 2008;87(12):1108-11.
2008: Sun Jin Choi; In Sun Song; Ok Hee Ryu; Sung Won Choi; P Suzanne Hart; Wells W Wu; Rong-Fong Shen; Thomas Hart
A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro.
Bone 2008;42(1):162-71.
2007: Shyh-Ing Jang; Eun-Jin Lee; P Suzanne Hart; Mukundhan Ramaswami; Debora Pallos; Thomas Hart
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.
The Journal of biological chemistry 2007;282(28):20245-55.
2007: P Suzanne Hart; Thomas Hart
Disorders of human dentin.
Cells, tissues, organs 2007;186(1):70-7.
2007: Maria C L G Santos; P Suzanne Hart; Mukundhan Ramaswami; Cláudia M Kanno; Thomas Hart; Sergio R P Line
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.
Head & face medicine 2007;3():8.
2005: N Arzu Cagli; Sema S Hakki; Recep Dursun; Hatice Toy; Alparslan Gokalp; Ok Hee Ryu; P Suzanne Hart; Thomas Hart
Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.
Journal of periodontology 2005;76(12):2322-9.
2005: Didem Ozdemir; P Suzanne Hart; Erhan Firatli; Gamze Aren; Ok Hee Ryu; Thomas Hart
Phenotype of ENAM mutations is dosage-dependent.
Journal of dental research 2005;84(11):1036-41.
2005: Didem Ozdemir; P Suzanne Hart; Ok Hee Ryu; S J Choi; M Ozdemir-Karatas; Erhan Firatli; Nicholas Piesco; Thomas Hart
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.
Journal of dental research 2005;84(11):1031-5.
2005: Darren B Ravassipour; CM Powell; Ceib Phillips; P Suzanne Hart; Thomas Hart; Courtney Boyd; John Wright
Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.
Archives of oral biology 2005;50(7):611-23.
2005: Ok Hee Ryu; Sun Jin Choi; Erhan Firatli; Sung Won Choi; P Suzanne Hart; Rong-Fong Shen; Guanghui Wang; Wells W Wu; Thomas Hart
Proteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteases.
The Journal of biological chemistry 2005;280(17):17415-21.
2004: P Suzanne Hart; Thomas Hart; Michael Michalec; Ok Hee Ryu; D Simmons; S Hong; John Wright
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.
Journal of medical genetics 2004;41(7):545-9.
2003: Thomas Hart; P Suzanne Hart; Michael C Gorry; Michael Michalec; Ok Hee Ryu; Cem Uygur; Didem Ozdemir; Sonmez Firatli; Gamze Aren; Erhan Firatli
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Journal of medical genetics 2003;40(12):900-6.
2003: P Suzanne Hart; John Wright; Mathew Savage; George Kang; Jeannette T Bensen; Michael C Gorry; Thomas Hart
Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta.
European journal of oral sciences 2003;111(4):326-31.
2003: P Suzanne Hart; Michael Michalec; Kim Seow; Thomas Hart; John Wright
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.
Archives of oral biology 2003;48(8):589-96.
2003: W Wang; P Suzanne Hart; Nicholas Piesco; X Lu; Michael C Gorry; Thomas Hart
Aquaporin expression in developing human teeth and selected orofacial tissues.
Calcified tissue international 2003;72(3):222-7.
2003: John Wright; P Suzanne Hart; Michael J Aldred; K Seow; P J M Crawford; S P Hong; C W Gibson; Thomas Hart
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.
Connective tissue research 2003;44 Suppl 1():72-8.
2003: Yingze Zhang; R Syed; C Uygar; Debora Pallos; Michael C Gorry; Erhan Firatli; José Roberto Cortelli; T E VanDyke; P Suzanne Hart; E Feingold; Thomas Hart
Evaluation of human leukocyte N-formylpeptide receptor (FPR1) SNPs in aggressive periodontitis patients.
Genes and immunity 2003;4(1):22-9.
2002: Thomas Hart; Michael C Gorry; P Suzanne Hart; A S Woodard; Zak K Shihabi; Jaspreet Sandhu; Brian H Shirts; L Xu; H Zhu; M. Michael Barmada; Anthony J Bleyer
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
Journal of medical genetics 2002;39(12):882-92.
2002: Yingze Zhang; P Suzanne Hart; Antonio Moretti; Otis J Bouwsma; E M Fisher; L Dudlicek; M J Pettenati; Thomas Hart
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
Human mutation 2002;20(1):75.
2002: P Suzanne Hart; Debora Pallos; Yingze Zhang; J Sanchez; I Kavamura; D Brunoni; Thomas Hart
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.
Molecular genetics and metabolism 2002;76(2):145-7.
2002: P Suzanne Hart; Michael J Aldred; P J M Crawford; N J Wright; Thomas Hart; John Wright
Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.
Archives of oral biology 2002;47(4):261-5.
2002: P Suzanne Hart; Thomas Hart; J P Simmer; John Wright
A nomenclature for X-linked amelogenesis imperfecta.
Archives of oral biology 2002;47(4):255-60.
2002: Thomas Hart; Yingze Zhang; Michael C Gorry; P Suzanne Hart; Margaret Cooper; Mary L Marazita; Jared M Marks; José Roberto Cortelli; Debora Pallos
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
American journal of human genetics 2002;70(4):943-54.
2002: Mohamad K Nusier; Yingze Zhang; Othman Yassin; Thomas Hart; P Suzanne Hart
Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.
Molecular genetics and metabolism 2002;75(3):280-3.
2001: Debora Pallos; P Suzanne Hart; José Roberto Cortelli; S Vian; John Wright; J Korkko; D Brunoni; Thomas Hart
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta.
Archives of oral biology 2001;46(5):459-70.
2001: Yingze Zhang; Tord Lundgren; Stefan Renvert; D N Tatakis; Erhan Firatli; Cem Uygur; P Suzanne Hart; Michael C Gorry; JJ Marks; Thomas Hart
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
Journal of medical genetics 2001;38(2):96-101.
2001: Yingze Zhang; Michael C Gorry; P Suzanne Hart; M J Pettenati; L Wang; JJ Marks; X Lu; Thomas Hart
Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21.
Cytogenetics and cell genetics 2001;95(3-4):146-52.
2000: P Suzanne Hart; Yingze Zhang; Erhan Firatli; Cem Uygur; M Lotfazar; Michael Michalec; JJ Marks; X Lu; B J Coates; Kim Seow; R Marshall; D Williams; J B Reed; John Wright; Thomas Hart
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
Journal of medical genetics 2000;37(12):927-32.
2000: P Suzanne Hart; Michael Michalec; John Wright; Thomas Hart
Two 3' polymorphisms in DLX5: g126427delTATC and g126249T-->C.
Human mutation 2000;16(5):448.
2000: Roland H Pfützer; M. Michael Barmada; A P Brunskill; R Finch; P Suzanne Hart; J Neoptolemos; William Furey; david whitcomb
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Gastroenterology 2000;119(3):615-23.
2000: D B Ravassipour; P Suzanne Hart; Thomas Hart; André V Ritter; Mitsuo Yamauchi; C Gibson; John Wright
Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation.
Journal of dental research 2000;79(7):1476-81.
2000: Thomas Hart; S J Walker; Donald W Bowden; P Suzanne Hart; S A Callison; Peggy Bobby; Erhan Firatli
An integrated physical and genetic map of the PLS locus interval on chromosome 11q14.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(3):243-6.
2000: P Suzanne Hart; A C Vlaservich; Thomas Hart; John Wright
Polymorphism (g2035C>T) in the amelogenin gene.
Human mutation 2000;15(3):298.
2000: Thomas Hart; P Suzanne Hart; Michael Michalec; Yingze Zhang; Mary L Marazita; Margaret Cooper; Othman Yassin; Mohamad K Nusier; S Walker
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
Journal of medical genetics 2000;37(2):95-101.
2000: Thomas Hart; P Suzanne Hart; Michael Michalec; Yingze Zhang; Erhan Firatli; T E Van Dyke; Ayala Stabholz; A Zlotogorski; Lior Shapira; W Aubrey Soskolne; A Zlorogorski
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Journal of medical genetics 2000;37(2):88-94.
1999: Thomas Hart; P Suzanne Hart; Donald W Bowden; Michael Michalec; S A Callison; S J Walker; Yingze Zhang; Erhan Firatli
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
Journal of medical genetics 1999;36(12):881-7.
1999: C Ruiz; F Lamm; P Suzanne Hart
Turner syndrome and multiple-marker screening.
Clinical chemistry 1999;45(12):2259-61.
1999: P K Cochran; Allen R Chauvenet; P Suzanne Hart; S S de Graaf; Barbara Ann Cushing; L Kroovand; Marcia M Wofford
Hereditary persistence of alpha-fetoprotein in a child with testicular germ cell tumor.
Medical and pediatric oncology 1999;32(6):436-7.
1999: P Suzanne Hart; A C Vlaservich; J H Ryu; R I Kohut
Improved method of isolation of DNA from celloidin-embedded tissue.
The Laryngoscope 1999;109(5):831-3.
1999: Mark J Pettenati; Margaret N Berry; P Suzanne Hart; P Nagesh Rao; P Lantz; Jon Rosnes
Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism.
Prenatal diagnosis 1999;19(1):25-8.
1997: T Jewett; P Suzanne Hart; P Nagesh Rao; Mark J Pettenati
A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation.
American journal of medical genetics 1997;69(1):96-7.