P. Hart

发表

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

P. Sulima, M. Marazita, J. Murray, 2009, European Journal of Human Genetics.

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

J. T. Wright, T. Hart, O. Ryu, 2004, Journal of Medical Genetics.

Childhood course of renal insufficiency in a family with a uromodulin gene mutation

A. Kiss, E. Gombos, A. Bleyer, 2010, Pediatric Nephrology.

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

Yingze Zhang, L. Shapira, W. A. Soskolne, 2000, Journal of medical genetics.

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

K. Hodaňová, S. Kmoch, J. Živný, 2010, Clinical nephrology.

In vivo impact of a 4 bp deletion mutation in the DLX3 gene on bone development.

N. Haruyama, T. Hart, S. J. Choi, 2009, Developmental biology.

Unique Enamel Phenotype Associated with Amelogenin Gene (AMELX) Codon 41 Point Mutation

M. Yamauchi, C. Gibson, T. Hart, 2000, Journal of dental research.

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.

T. Hart, P. Crawford, N. J. Wright, 2002, Archives of oral biology.

Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers

E. Sidransky, P. Hart, 2012, Neurology.

Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.

T. Hart, H. Toy, R. Dursun, 2005, Journal of periodontology.

Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.

D. Brunoni, T. Hart, J. Sanchez, 2002, Molecular genetics and metabolism.

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome

T. Hart, O. Bouwsma, M. Pettenati, 2002, Human mutation.

Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients

T. Hart, J. Reed, E. Fıratlı, 2000, Journal of medical genetics.

Original articles Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

D. Bowden, Yingze Zhang, T. Hart, 1999 .

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

J. Kelsoe, P. Kimmel, A. Mégarbané, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Hereditary interstitial kidney disease.

S. Kmoch, A. Bleyer, P. Hart, 2010, Seminars in nephrology.

Turner syndrome and multiple-marker screening.

C. Ruiz, C Ruiz, F Lamm, 1999, Clinical chemistry.

Evaluation of human leukocyte N-formylpeptide receptor (FPR1) SNPs in aggressive periodontitis patients

T C Hart, M. Gorry, T. Hart, 2003, Genes and Immunity.

More on clinical renal genetics.

F. Nevens, C. Antignac, M. Kalbáčová, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

T C Hart, M. Gorry, B. Shirts, 2002, Journal of medical genetics.

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype [Letter To Jmg]

S. Warren, A. Taylor, G. Fisch, 2005 .

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

C. Venditti, P. Tanpaiboon, D. Mcareavey, 2013, JIMD reports.

Partial biotinidase deficiency: clinical and biochemical features.

M. Blitzer, B. Wolf, H. Levy, 1990, The Journal of pediatrics.

locus assignment to chromosome 3p Gray platelet syndrome: natural history of a large patient cohort and

J. Mullikin, N. Hansen, D. Geiger, 2011 .

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

J. Mullikin, N. Hansen, D. Geiger, 2010, Blood.

Prenatal detection of non‐cardiac rhabdomyosarcoma

J. Bodurtha, J. Smeltzer, P. Hart, 1990, Prenatal diagnosis.

Aquaporin Expression in Developing Human Teeth and Selected Orofacial Tissues

M. Gorry, T. Hart, N. Piesco, 2003, Calcified Tissue International.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

R. Denadai, D. Bertola, N. Alonso, 2012, American journal of medical genetics. Part A.

Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.

C. Powell, T. Hart, C. Phillips, 2005, Archives of oral biology.

Disorders of Human Dentin

T. Hart, P. Hart, 2007, Cells Tissues Organs.

A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro.

Rong-Fong Shen, Wells W. Wu, T. Hart, 2008, Bone.

Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta

D. McKnight, J. Simmer, T. Hart, 2008, Journal of dental research.

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4

Yong Li, C. Gibson, J. T. Wright, 2008, Cells Tissues Organs.

Head & Face Medicine BioMed Central

T. Hart, P. Hart, C. Kanno, 2007 .

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

T. Hart, J. Simmer, J. D. Bartlett, 2005, Journal of Medical Genetics.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta

M. Ozdemir-Karatas, T. Hart, N. Piesco, 2005, Journal of dental research.

Genetic studies of craniofacial anomalies: clinical implications and applications.

T C Hart, T. Hart, P S Hart, 2009, Orthodontics & craniofacial research.

Phenotype of ENAM Mutations is Dosage-dependent

E. Fıratlı, G. Aren, T. Hart, 2005, Journal of dental research.

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

M. Gorry, T. Hart, E. Fıratlı, 2003, Journal of medical genetics.

Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta.

M. Gorry, J. T. Wright, T. Hart, 2003, European journal of oral sciences.

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

T. Hart, W. Seow, J. T. Wright, 2003, Archives of oral biology.

A nomenclature for X-linked amelogenesis imperfecta.

T. Hart, J. Simmer, J. T. Wright, 2002, Archives of oral biology.

Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

C. Gibson, T. Hart, P. Crawford, 2003, Connective tissue research.

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Mary L Marazita, M. Marazita, M. Gorry, 2002, American journal of human genetics.

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.

M. Barmada, J. Neoptolemos, D. Whitcomb, 2000, Gastroenterology.

Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.

B. Wolf, J. Hymes, P. Hart, 1992, American journal of human genetics.

Partial biotinidase deficiency' and biochemical features Clinical

M. Blitzer, B. Wolf, H. Levy, 1990 .

Isoforms of human serum biotinidase.

B. Wolf, J. Hymes, P. Hart, 1991, Clinica chimica acta; international journal of clinical chemistry.

Biochemical and Immunologic Characterization of Serum Biotinidase in Partial Biotinidase

B. Wolf, J. Hymes, P. Hart, 1992, Pediatric Research.

Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta

T. Hart, P. Crawford, P. Hart, 2009, Journal of dental research.

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

J. T. Wright, T. Hart, P. Crawford, 2011, Cells Tissues Organs.

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta

P. Sulima, D. Ozdemir-Ozenen, T. Hart, 2009, Clinical genetics.

Oral rehabilitation of a patient with amelogenesis imperfecta.

T. Hart, G. Emingil, D. Çoğulu, 2009, Pediatric dentistry.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta

T. Hart, G. Emingil, D. Çoğulu, 2009, American journal of medical genetics. Part A.

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Eric S. Lander, Aviv Regev, Irit Gat-Viks, 2013, Nature Genetics.

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients

M. Gorry, T. Hart, D. Tatakis, 2001, Journal of medical genetics.

Invited commentary: The need for human genetics and genomics in dental school curricula

T. Hart, P. Hart, 2016, Molecular genetics & genomic medicine.

Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis*

S. Jang, T. Hart, Eun-Jin Lee, 2007, Journal of Biological Chemistry.

Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

W. Gahl, T. Markello, W. Westbroek, 2010, American journal of medical genetics. Part A.

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

C. Antignac, M. Kalbáčová, J. Fryns, 2009, American journal of human genetics.

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

T C Hart, S. Walker, M. Marazita, 2000, Journal of medical genetics.

Harnessing Information Using Genomic Platforms

W. Gahl, T. Markello, P. Hart, 2012 .

Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)

D. Ozdemir-Ozenen, M. Ozdemir-Karatas, T. Hart, 2014, Case reports in dentistry.

Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta

D. Brunoni, T. Hart, J. Cortelli, 2001 .

Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22→p21

M. Gorry, T. Hart, L. Wang, 2002, Cytogenetic and Genome Research.

Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related

S. Kmoch, A. Bleyer, P. Hart, 2016 .

UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3

R. Schiffmann, E. Sidransky, N. Nagan, 2008, Neurology.

Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.

B. Wolf, B. Barnstein, P. Hart, 1992, Biochemical medicine and metabolic biology.

Proteolysis of Macrophage Inflammatory Protein-1α Isoforms LD78β and LD78α by Neutrophil-derived Serine Proteases*

Rong-Fong Shen, Wells W. Wu, E. Fıratlı, 2005, Journal of Biological Chemistry.

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

S. Walker, M. Marazita, Yingze Zhang, 2000, Journal of medical genetics.