Literature DB >> 29499161

2017 Curt Stern Award: The Complexity of Simple Genetics.

Nicholas Katsanis1.   

Abstract

Mesh：

Year:  2018        PMID： 29499161      PMCID： PMC5985343          DOI： 10.1016/j.ajhg.2018.02.004

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


× No keyword cloud information.
  27 in total

Review 1.  Intraflagellar transport.

Authors:  Joel L Rosenbaum; George B Witman
Journal:  Nat Rev Mol Cell Biol       Date:  2002-11       Impact factor: 94.444

2.  Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Authors:  Norann A Zaghloul; Yangjian Liu; Jantje M Gerdes; Cecilia Gascue; Edwin C Oh; Carmen C Leitch; Yana Bromberg; Jonathan Binkley; Rudolph L Leibel; Arend Sidow; Jose L Badano; Nicholas Katsanis
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-24       Impact factor: 11.205

3.  In vivo modeling of the morbid human genome using Danio rerio.

Authors:  Adrienne R Niederriter; Erica E Davis; Christelle Golzio; Edwin C Oh; I-Chun Tsai; Nicholas Katsanis
Journal:  J Vis Exp       Date:  2013-08-24       Impact factor: 1.355

4.  Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Authors:  D L Stone; A Slavotinek; G G Bouffard; S Banerjee-Basu; A D Baxevanis; M Barr; L G Biesecker
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

5.  Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Authors:  A E Kwitek-Black; R Carmi; G M Duyk; K H Buetow; K Elbedour; R Parvari; C N Yandava; E M Stone; V C Sheffield
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

6.  Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Authors:  V C Sheffield; R Carmi; A Kwitek-Black; T Rokhlina; D Nishimura; G M Duyk; K Elbedour; S L Sunden; E M Stone
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

7.  Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium.

Authors:  Bradley K Yoder; Albert Tousson; Leigh Millican; John H Wu; Charles E Bugg; James A Schafer; Daniel F Balkovetz
Journal:  Am J Physiol Renal Physiol       Date:  2002-03

8.  Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Authors:  D Y Nishimura; C C Searby; R Carmi; K Elbedour; L Van Maldergem; A B Fulton; B L Lam; B R Powell; R E Swiderski; K E Bugge; N B Haider; A E Kwitek-Black; L Ying; D M Duhl; S W Gorman; E Heon; A Iannaccone; D Bonneau; L G Biesecker; S G Jacobson; E M Stone; V C Sheffield
Journal:  Hum Mol Genet       Date:  2001-04-01       Impact factor: 6.150

9.  Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Authors:  R Carmi; T Rokhlina; A E Kwitek-Black; K Elbedour; D Nishimura; E M Stone; V C Sheffield
Journal:  Hum Mol Genet       Date:  1995-01       Impact factor: 6.150

10.  TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Authors:  Erica E Davis; Qi Zhang; Qin Liu; Bill H Diplas; Lisa M Davey; Jane Hartley; Corinne Stoetzel; Katarzyna Szymanska; Gokul Ramaswami; Clare V Logan; Donna M Muzny; Alice C Young; David A Wheeler; Pedro Cruz; Margaret Morgan; Lora R Lewis; Praveen Cherukuri; Baishali Maskeri; Nancy F Hansen; James C Mullikin; Robert W Blakesley; Gerard G Bouffard; Gabor Gyapay; Susanne Rieger; Burkhard Tönshoff; Ilse Kern; Neveen A Soliman; Thomas J Neuhaus; Kathryn J Swoboda; Hulya Kayserili; Tomas E Gallagher; Richard A Lewis; Carsten Bergmann; Edgar A Otto; Sophie Saunier; Peter J Scambler; Philip L Beales; Joseph G Gleeson; Eamonn R Maher; Tania Attié-Bitach; Hélène Dollfus; Colin A Johnson; Eric D Green; Richard A Gibbs; Friedhelm Hildebrandt; Eric A Pierce; Nicholas Katsanis
Journal:  Nat Genet       Date:  2011-01-23       Impact factor: 38.330
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.