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Kenneth Friedman

Research Profile

Disorders

Chemicals & Drugs

Procedures

Physiology

Concepts & Ideas

Molecular Sequence Data

Anatomy

Sweat

Genes & Molecular Sequences

Alleles

Living Beings

Heterozygote

Phenomena

Nucleic Acid Hybridization

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Publications

TOP 3
Shannon D Barker; Sherri Bale; Jessica K Booker; Arlene Buller; Soma Das; Kenneth Friedman; Andrew K Godwin; Wayne W Grody; Edward Highsmith; Jeffery A Kant; Elaine Lyon; Rong Mao; Kristin G Monaghan; Deborah A Payne; Victoria M Pratt; Iris Schrijver; Antony E Shrimpton; Elaine Spector; Milhan Telatar; Lorraine Toji; Karen Weck-Taylor; Barbara Zehnbauer; Lisa V Kalman
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Jaclyn R Bartlett; Kenneth Friedman; Simon C Ling; Rhonda G Pace; Scott C Bell; Billy Bourke; Giuseppe Castaldo; Carlo Castellani; Marco Cipolli; Carla Colombo; John L Colombo; Dominique Debray; Adriana Fernandez; Florence Lacaille; Milan Macek Jr.; Marion Rowland; Francesco Salvatore; Christopher J Taylor; Claire Wainwright; Michael Wilschanski; Dana Zemková; William B Hannah; M James Phillips; Mary Corey; Julian Zielenski; Ruslan Dorfman; Yunfei Wang; Fei Zou; Lawrence M Silverman; Mitchell L Drumm; Fred A Wright; Ethan M Lange; Peter Roy Durie; Michael Knowles
Genetic modifiers of liver disease in cystic fibrosis.
Bin Chen; Catherine D O' Connell; D Joe Boone; Jean A Amos; Jeanne C Beck; Maria M Chan; Daniel H Farkas; Roger V Lebo; Carolyn S (Sue) Richards; Benjamin B Roa; Lawrence M Silverman; David Barton; Bassem A Bejjani; Dorothy R Belloni; Susan H Bernacki; Michele Caggana; PATRICIA CHARACHE; Elisabeth Dequeker; Andrea Ferreira-Gonzalez; Kenneth Friedman; Carol L Greene; Wayne W Grody; W Edward Highsmith; Cecelia S Hinkel; Lisa V Kalman; Ira M Lubin; Elaine Lyon; Deborah A Payne; Victoria M Pratt; Elizabeth Rohlfs; Clark A Rundell; Erasmus Schneider; Ann M Willey; Laurina O Williams; James Willey; Emily S Winn-Deen; Daynna J Wolff
Developing a sustainable process to provide quality control materials for genetic testing.

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All Publications

2009: Shannon D Barker; Sherri Bale; Jessica K Booker; Arlene Buller; Soma Das; Kenneth Friedman; Andrew K Godwin; Wayne W Grody; Edward Highsmith; Jeffery A Kant; Elaine Lyon; Rong Mao; Kristin G Monaghan; Deborah A Payne; Victoria M Pratt; Iris Schrijver; Antony E Shrimpton; Elaine Spector; Milhan Telatar; Lorraine Toji; Karen Weck-Taylor; Barbara Zehnbauer; Lisa V Kalman
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
The Journal of molecular diagnostics : JMD 2009;11(6):553-61.
2009: Jaclyn R Bartlett; Kenneth Friedman; Simon C Ling; Rhonda G Pace; Scott C Bell; Billy Bourke; Giuseppe Castaldo; Carlo Castellani; Marco Cipolli; Carla Colombo; John L Colombo; Dominique Debray; Adriana Fernandez; Florence Lacaille; Milan Macek Jr.; Marion Rowland; Francesco Salvatore; Christopher J Taylor; Claire Wainwright; Michael Wilschanski; Dana Zemková; William B Hannah; M James Phillips; Mary Corey; Julian Zielenski; Ruslan Dorfman; Yunfei Wang; Fei Zou; Lawrence M Silverman; Mitchell L Drumm; Fred A Wright; Ethan M Lange; Peter Roy Durie; Michael Knowles
Genetic modifiers of liver disease in cystic fibrosis.
JAMA : the journal of the American Medical Association 2009;302(10):1076-83.
2005: Bin Chen; Catherine D O' Connell; D Joe Boone; Jean A Amos; Jeanne C Beck; Maria M Chan; Daniel H Farkas; Roger V Lebo; Carolyn S (Sue) Richards; Benjamin B Roa; Lawrence M Silverman; David Barton; Bassem A Bejjani; Dorothy R Belloni; Susan H Bernacki; Michele Caggana; PATRICIA CHARACHE; Elisabeth Dequeker; Andrea Ferreira-Gonzalez; Kenneth Friedman; Carol L Greene; Wayne W Grody; W Edward Highsmith; Cecelia S Hinkel; Lisa V Kalman; Ira M Lubin; Elaine Lyon; Deborah A Payne; Victoria M Pratt; Elizabeth Rohlfs; Clark A Rundell; Erasmus Schneider; Ann M Willey; Laurina O Williams; James Willey; Emily S Winn-Deen; Daynna J Wolff
Developing a sustainable process to provide quality control materials for genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(8):534-49.
2005: W Edward Highsmith; Kenneth Friedman; L H Burch; A Spock; Lawrence M Silverman; Richard C Boucher; Michael Knowles
A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides.
Clinical genetics 2005;68(1):88-90.
2004: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2000: Peadar G Noone; C A Pue; Z Zhou; Kenneth Friedman; E L Wakeling; M Ganeshananthan; Richard H Simon; Lawrence M Silverman; Michael Knowles
Lung disease associated with the IVS8 5T allele of the CFTR gene.
American journal of respiratory and critical care medicine 2000;162(5):1919-24.
1999: Kenneth Friedman; Jolanta Kole; Jonathan A Cohn; Michael Knowles; Lawrence M Silverman; Ryszard Kole
Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.
The Journal of biological chemistry 1999;274(51):36193-9.
1999: Kenneth Friedman; Lawrence M Silverman
Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular diagnostics.
Clinical chemistry 1999;45(7):929-31.
1998: Jonathan A Cohn; Kenneth Friedman; Peadar G Noone; Michael Knowles; Lawrence M Silverman; Paul S Jowell
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
The New England journal of medicine 1998;339(10):653-8.
1998: Kenneth Friedman; Margaret W Leigh; PM Czarnecki; Gerald L Feldman
Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.
American journal of human genetics 1998;62(1):195-6.
1997: Milan Macek Jr.; A Mackova; Ada Hamosh; B C Hilman; R F Selden; G Lucotte; Kenneth Friedman; Michael Knowles; Beryl J Rosenstein; Garry R Cutting
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
American journal of human genetics 1997;60(5):1122-7.
1997: Kenneth Friedman; Ruth A Heim; Michael Knowles; Lawrence M Silverman
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.
Human mutation 1997;10(2):108-15.
1997: W Edward Highsmith; L H Burch; Z Zhou; John C Olsen; T V Strong; T Smith; Kenneth Friedman; Lawrence M Silverman; Richard C Boucher; Francis S Collins; Michael Knowles
Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
Human mutation 1997;9(4):332-8.
1997: Elizabeth M Rohlfs; W G Learning; Kenneth Friedman; Fergus J. Couch; Barbara L Weber; Lawrence M Silverman
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.
Clinical chemistry 1997;43(1):24-9.
1996: Ranon Mann; Kenneth Friedman; S S Milgraum
Urticaria pigmentosa and juvenile xanthogranuloma: case report and brief review of the literature.
Pediatric dermatology 1996;13(2):122-6.
1995: Kenneth Friedman; H Teichtahl; David M de Kretser; Peter D Temple-Smith; Graeme J Southwick; Lawrence M Silverman; W Edward Highsmith; Richard C Boucher; Michael Knowles
Screening Young syndrome patients for CFTR mutations.
American journal of respiratory and critical care medicine 1995;152(4 Pt 1):1353-7.
1995: Kenneth Friedman; M L Blalock; R A Heim; Lawrence M Silverman
Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.
Human mutation 1995;6(1):95-6.
1994: W Edward Highsmith; L H Burch; Z Zhou; John C Olsen; T E Boat; A Spock; J D Gorvoy; L Quittel; Kenneth Friedman; Lawrence M Silverman
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
The New England journal of medicine 1994;331(15):974-80.
1994: Gregory J Tsongalis; G Faber; F G Dalldorf; Kenneth Friedman; Lawrence M Silverman; James R Yankaskas
Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient.
Clinical chemistry 1994;40(10):1972-4.
1994: Lorena Orozco; Kenneth Friedman; M Chávez; J L Lezana; M T Villarreal; Alessandra Carnevale
Identification of the I507 deletion by site-directed mutagenesis.
American journal of medical genetics 1994;51(2):137-9.
1994: Gregory J Tsongalis; William K Kaufmann; S J Wilson; Kenneth Friedman; Lawrence M Silverman
Rapid screening for p53 mutations with a sensitive heteroduplex detection technique.
Clinical chemistry 1994;40(3):485-6.
1992: S R Gudibande; J H Kenten; J Link; Kenneth Friedman; R J Massey
Rapid, non-separation electrochemiluminescent DNA hybridization assays for PCR products, using 3'-labelled oligonucleotide probes.
Molecular and cellular probes 1992;6(6):495-503.
1992: J P Tazelaar; Kenneth Friedman; R S Kline; M L Guthrie; Rosann A Farber
Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Clinical chemistry 1992;38(8 Pt 1):1486-8.
1992: C A Quigley; Kenneth Friedman; A Johnson; R G Lafreniere; Lawrence M Silverman; D B Lubahn; Terry R Brown; Elizabeth M Wilson; H F Willard; Frank S French
Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.
The Journal of clinical endocrinology and metabolism 1992;74(4):927-33.
1991: Kenneth Friedman; W Edward Highsmith; Lawrence M Silverman
Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Clinical chemistry 1991;37(5):753-5.
1990: Thomas W Prior; Audrey C Papp; P J Snyder; W Edward Highsmith; Kenneth Friedman; T R Perry; Lawrence M Silverman; Jerry R Mendell
Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.
Clinical chemistry 1990;36(12):2113-7.
1990: Thomas W Prior; W Edward Highsmith; Kenneth Friedman; T R Perry; G Scheuerbrandt; Lawrence M Silverman
A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis.
Clinical chemistry 1990;36(10):1756-9.
1990: G Landman; R M Taylor; Kenneth Friedman
Cutaneous papillary squamous cell carcinoma. A report of two cases.
Journal of cutaneous pathology 1990;17(2):105-10.
1990: Kenneth Friedman; W Edward Highsmith; Thomas W Prior; T R Perry; Lawrence M Silverman
Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.
Clinical chemistry 1990;36(4):695-6.
1990: Thomas W Prior; Kenneth Friedman; W Edward Highsmith; T R Perry; Lawrence M Silverman
Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies.
Clinical chemistry 1990;36(3):441-5.
1989: Georgia B Vogelsang; Allan Hess; Kenneth Friedman; G W Santos
Therapy of chronic graft-v-host disease in a rat model.
Blood 1989;74(1):507-11.
1989: Thomas W Prior; Kenneth Friedman; Lawrence M Silverman
Detection of Duchenne/Becker muscular dystrophy carriers by densitometric scanning.
Clinical chemistry 1989;35(6):1256-7.
1989: Thomas W Prior; Kenneth Friedman; Lawrence M Silverman
RFLP for HindIII at the Duchenne muscular dystrophy gene.
Nucleic acids research 1989;17(6):2370.
1989: Kenneth Friedman
Low-grade primary cutaneous adenosquamous (mucoepidermoid) carcinoma. Report of a case and review of the literature.
The American Journal of dermatopathology 1989;11(1):43-50.
1988: JACQUELINE JUNKINS-HOPKINS; R A Beveridge; Kenneth Friedman
An unusual fungal infection in an immunocompromised oncology patient. Cutaneous alternariosis.
Archives of dermatology 1988;124(9):1421, 1424-5.
1988: Kenneth Friedman; A F Hood; Evan Farmer
Cutaneous squamous cell carcinoma with mucinous metaplasia.
Journal of cutaneous pathology 1988;15(3):176-82.
1988: Kenneth Friedman; P E LeBoit; Evan Farmer
Acute follicular graft-vs-host reaction. A distinct clinicopathologic presentation.
Archives of dermatology 1988;124(5):688-91.
1987: B K Yokel; Kenneth Friedman; Evan Farmer; A F Hood
Cutaneous pathology following etoposide therapy.
Journal of cutaneous pathology 1987;14(6):326-30.
1987: Kenneth Friedman; S Boudreau; Evan Farmer
Superficial epithelioma with sebaceous differentiation.
Journal of cutaneous pathology 1987;14(4):193-7.
1987: W N Christensen; Kenneth Friedman; J D Woodruff; A F Hood
Histologic characteristics of vulvar nevocellular nevi.
Journal of cutaneous pathology 1987;14(2):87-91.
1987: B J Kuttner; Kenneth Friedman; C S Burton; E A Olsen
Letterer-Siwe disease in an adult.
Cutis; cutaneous medicine for the practitioner 1987;39(2):142-6.
1986: Kenneth Friedman; R T Vollmer
Malignant melanoma and squamous cell carcinoma in a patient treated for severe pustular psoriasis.
The Journal of dermatologic surgery and oncology 1986;12(12):1290-4.
1986: W S Sawchuk; Kenneth Friedman; T Manning; S R Pinnell
Delayed healing in full-thickness wounds treated with aluminum chloride solution. A histologic study with evaporimetry correlation.
Journal of the American Academy of Dermatology 1986;15(5 Pt 1):982-9.
1986: Kenneth Friedman; SV Pollack; T Manning; S R Pinnell
Degradation of porcine dermal connective tissue by collagenase and hyaluronidase.
The British journal of dermatology 1986;115(4):403-8.

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