Literature DB >> 2904879

Report of the committee on the genetic constitution of the X chromosome.

J L Mandel, H F Willard, R L Nussbaum, K E Davies, G Romeo.   

Abstract

Mesh：

Year:  1988        PMID： 2904879     DOI： 10.1159/000132662

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


× No keyword cloud information.
  7 in total

1.  Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

Authors:  N Archidiacono; M Lerone; M Rocchi; M Anvret; T Ozcelik; U Francke; G Romeo
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

2.  A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.

Authors:  N T Bech-Hansen; L L Field; A M Schramm; M Reedyk; I W Craig; N J Fraser; W G Pearce
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

3.  Physical fine-mapping of a deletion spanning the Norrie gene.

Authors:  P J Diergaarde; B Wieringa; E M Bleeker-Wagemakers; K B Sims; X O Breakefield; H H Ropers
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

4.  A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities.

Authors:  D B van Dorp; A F Wright; A D Carothers; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

5.  The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

Authors:  M F Lyon; J Peters; P H Glenister; S Ball; E Wright
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

6.  Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Authors:  D E Merry; J G Lesko; D M Sosnoski; R A Lewis; M Lubinsky; B Trask; G van den Engh; F S Collins; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

7.  An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

Authors:  C Petit; J Melki; J Levilliers; F Serville; J Weissenbach; P Maroteaux
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.