Literature DB >> 8981940

Variable expressivity of patched mutations in flies and humans.

A E Bale.   

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Year:  1997        PMID： 8981940      PMCID： PMC1712536     

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


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  20 in total

1.  Localisation of gene for the naevoid basal-cell carcinoma syndrome.

Authors:  A Reis; W Küster; G Linss; E Gebel; H Hamm; W Fuhrmann; G Wolff; W Groth; G Gustafson; M Kuklik
Journal:  Lancet       Date:  1992-03-07       Impact factor: 79.321

Review 2.  Genetic and environmental interactions.

Authors:  L C Strong
Journal:  Cancer       Date:  1977-10       Impact factor: 6.860

3.  The nevoid basal cell carcinoma syndrome.

Authors:  D E Anderson; W B Taylor; H F Falls; R T Davidson
Journal:  Am J Hum Genet       Date:  1967-01       Impact factor: 11.025

4.  The William Allan Memorial Award Address: evolution of a palatable multifactorial threshold model.

Authors:  F C Fraser
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

5.  Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers.

Authors:  A Ziegler; D J Leffell; S Kunala; H W Sharma; M Gailani; J A Simon; A J Halperin; H P Baden; P E Shapiro; A E Bale
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

6.  Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.

Authors:  M R Gailani; S J Bale; D J Leffell; J J DiGiovanna; G L Peck; S Poliak; M A Drum; B Pastakia; O W McBride; R Kase
Journal:  Cell       Date:  1992-04-03       Impact factor: 41.582

7.  Location of gene for Gorlin syndrome.

Authors:  P A Farndon; R G Del Mastro; D G Evans; M W Kilpatrick
Journal:  Lancet       Date:  1992-03-07       Impact factor: 79.321

8.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

9.  Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I.

Authors:  S J Bale; C I Amos; D M Parry; A E Bale
Journal:  Am J Med Genet       Date:  1991-08-01

10.  The Drosophila segment polarity gene patched is involved in a position-signalling mechanism in imaginal discs.

Authors:  R G Phillips; I J Roberts; P W Ingham; J R Whittle
Journal:  Development       Date:  1990-09       Impact factor: 6.868
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  5 in total

1.  Bilateral ovarian fibroma associated with Gorlin syndrome.

Authors:  Shahnaz Aram; Noushin Afshar Moghaddam
Journal:  J Res Med Sci       Date:  2009-01       Impact factor: 1.852

2.  A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.

Authors:  Nisha Patel; Arif O Khan; Maher Al-Saif; Walid N Moghrabi; Balsam M AlMaarik; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Tarfa Alshidi; Eman Alobeid; Rana A Alomar; Saad Al-Harbi; Mohamed Abouelhoda; Khalid S A Khabar; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2017-07-28       Impact factor: 13.583

3.  Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.

Authors:  Daigo Hasegawa; Hiromi Ochiai-Shino; Shoko Onodera; Takashi Nakamura; Akiko Saito; Takeshi Onda; Katsuhito Watanabe; Ken Nishimura; Manami Ohtaka; Mahito Nakanishi; Kenjiro Kosaki; Akira Yamaguchi; Takahiko Shibahara; Toshifumi Azuma
Journal:  PLoS One       Date:  2017-10-31       Impact factor: 3.240

4.  Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.

Authors:  Boram Kim; Man Jin Kim; Keunyoung Hur; Seong Jin Jo; Jung Min Ko; Sung Sup Park; Moon-Woo Seong; Je-Ho Mun
Journal:  Sci Rep       Date:  2021-01-13       Impact factor: 4.379

Review 5.  Vismodegib hedgehog-signaling inhibition and treatment of basal cell carcinomas as well as keratocystic odontogenic tumors in Gorlin syndrome.

Authors:  Patrick Booms; Marc Harth; Robert Sader; Shahram Ghanaati
Journal:  Ann Maxillofac Surg       Date:  2015 Jan-Jun
  5 in total

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