Literature DB >> 12596787

2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments.

Albert de la Chapelle1.   

Abstract

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Year:  2003        PMID： 12596787      PMCID： PMC379216          DOI： 10.1086/346215

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  11 in total

1.  Conversion of diploidy to haploidy.

Authors:  H Yan; N Papadopoulos; G Marra; C Perrera; J Jiricny; C R Boland; H T Lynch; R B Chadwick; A de la Chapelle; K Berg; J R Eshleman; W Yuan; S Markowitz; S J Laken; C Lengauer; K W Kinzler; B Vogelstein
Journal:  Nature       Date:  2000-02-17       Impact factor: 49.962

2.  Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.

Authors:  Hidewaki Nakagawa; Hai Yan; Janet Lockman; Heather Hampel; Kenneth W Kinzler; Bert Vogelstein; Albert De La Chapelle
Journal:  Cancer Res       Date:  2002-08-15       Impact factor: 12.701

3.  Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

Authors:  R Salovaara; A Loukola; P Kristo; H Kääriäinen; H Ahtola; M Eskelinen; N Härkönen; R Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; H Järvinen; J P Mecklin; L A Aaltonen; A de la Chapelle
Journal:  J Clin Oncol       Date:  2000-06       Impact factor: 44.544

4.  1998 ASHG presidential address. Making genomic medicine a reality.

Authors:  A L Beaudet
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

5.  Detection of proximal colorectal cancers through analysis of faecal DNA.

Authors:  Giovanni Traverso; Anthony Shuber; Louise Olsson; Bernard Levin; Constance Johnson; Stanley R Hamilton; Kevin Boynton; Kenneth W Kinzler; Bert Vogelstein
Journal:  Lancet       Date:  2002-02-02       Impact factor: 79.321

6.  Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.

Authors:  L A Aaltonen; R Salovaara; P Kristo; F Canzian; A Hemminki; P Peltomäki; R B Chadwick; H Kääriäinen; M Eskelinen; H Järvinen; J P Mecklin; A de la Chapelle
Journal:  N Engl J Med       Date:  1998-05-21       Impact factor: 91.245

Review 7.  Genetic susceptibility to non-polyposis colorectal cancer.

Authors:  H T Lynch; A de la Chapelle
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

Review 8.  Testing tumors for microsatellite instability.

Authors:  A de la Chapelle
Journal:  Eur J Hum Genet       Date:  1999 May-Jun       Impact factor: 4.246

9.  Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.

Authors:  H J Järvinen; M Aarnio; H Mustonen; K Aktan-Collan; L A Aaltonen; P Peltomäki; A De La Chapelle; J P Mecklin
Journal:  Gastroenterology       Date:  2000-05       Impact factor: 22.682

Review 10.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.

Authors:  C R Boland; S N Thibodeau; S R Hamilton; D Sidransky; J R Eshleman; R W Burt; S J Meltzer; M A Rodriguez-Bigas; R Fodde; G N Ranzani; S Srivastava
Journal:  Cancer Res       Date:  1998-11-15       Impact factor: 12.701
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  4 in total

1.  Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Authors:  Graham Casey; Noralane M Lindor; Nickolas Papadopoulos; Stephen N Thibodeau; John Moskow; Scott Steelman; Carolyn H Buzin; Steve S Sommer; Christine E Collins; Malinda Butz; Melyssa Aronson; Steven Gallinger; Melissa A Barker; Joanne P Young; Jeremy R Jass; John L Hopper; Anh Diep; Bharati Bapat; Michael Salem; Daniela Seminara; Robert Haile
Journal:  JAMA       Date:  2005-02-16       Impact factor: 56.272

2.  MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.

Authors:  Alejandro Giraldo; Andrea Gómez; Gustavo Salguero; Herbert García; Fabio Aristizábal; Oscar Gutiérrez; Luis Alberto Angel; Jorge Padrón; Carlos Martínez; Humberto Martínez; Omar Malaver; Luis Flórez; Rosa Barvo
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

3.  Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.

Authors:  Chang-Hua Zhang; Yu-Long He; Fang-Jin Wang; Wu Song; Xi-Yu Yuan; Dong-Jie Yang; Chuang-Qi Chen; Shi-Rong Cai; Wen-Hua Zhan
Journal:  World J Gastroenterol       Date:  2008-01-14       Impact factor: 5.742

4.  Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Authors:  Sigurdis Haraldsdottir; Thorunn Rafnar; Wendy L Frankel; Sylvia Einarsdottir; Asgeir Sigurdsson; Heather Hampel; Petur Snaebjornsson; Gisli Masson; Daniel Weng; Reynir Arngrimsson; Birte Kehr; Ahmet Yilmaz; Stefan Haraldsson; Patrick Sulem; Tryggvi Stefansson; Peter G Shields; Fridbjorn Sigurdsson; Tanios Bekaii-Saab; Pall H Moller; Margret Steinarsdottir; Kristin Alexiusdottir; Megan Hitchins; Colin C Pritchard; Albert de la Chapelle; Jon G Jonasson; Richard M Goldberg; Kari Stefansson
Journal:  Nat Commun       Date:  2017-05-03       Impact factor: 14.919
  4 in total

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