Literature DB >> 9585585

Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.

Y Pan, C D McCaskill, K H Thompson, J Hicks, B Casey, L G Shaffer, W J Craigen.   

Abstract

Mesh：

Year:  1998        PMID： 9585585      PMCID： PMC1377136          DOI： 10.1086/301857

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


× No keyword cloud information.
  20 in total

1.  Isoform-specific imprinting of the human PEG1/MEST gene.

Authors:  K Kosaki; R Kosaki; W J Craigen; N Matsuo
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

Review 3.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

4.  Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

Authors:  M Geremek; E Zietkiewicz; S R Diehl; B Z Alizadeh; C Wijmenga; M Witt
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

5.  Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Authors:  H Yoshihashi; K Maeyama; R Kosaki; T Ogata; M Tsukahara; Y Goto; J Hata; N Matsuo; R J Smith; K Kosaki
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

Review 6.  New developments in Silver-Russell syndrome and implications for clinical practice.

Authors:  Miho Ishida
Journal:  Epigenomics       Date:  2016-04-12       Impact factor: 4.778

7.  Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

Authors:  G J Pazour; N Agrin; B L Walker; G B Witman
Journal:  J Med Genet       Date:  2005-06-03       Impact factor: 6.318

8.  Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Authors:  Lars Feuk; Aino Kalervo; Marita Lipsanen-Nyman; Jennifer Skaug; Kazuhiko Nakabayashi; Brenda Finucane; Danielle Hartung; Micheil Innes; Batsheva Kerem; Malgorzata J Nowaczyk; Joseph Rivlin; Wendy Roberts; Lili Senman; Anne Summers; Peter Szatmari; Virginia Wong; John B Vincent; Susan Zeesman; Lucy R Osborne; Janis Oram Cardy; Juha Kere; Stephen W Scherer; Katariina Hannula-Jouppi
Journal:  Am J Hum Genet       Date:  2006-09-27       Impact factor: 11.025

9.  Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Authors:  Lucia Bartoloni; Jean-Louis Blouin; Yanzhen Pan; Corinne Gehrig; Amit K Maiti; Nathalie Scamuffa; Colette Rossier; Mark Jorissen; Miguel Armengot; Maggie Meeks; Hannah M Mitchison; Eddie M K Chung; Celia D Delozier-Blanchet; William J Craigen; Stylianos E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  2002-07-25       Impact factor: 11.205

Review 10.  Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.

Authors:  Hauw Lie; Thomas Ferkol
Journal:  Drugs       Date:  2007       Impact factor: 9.546
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.