Literature DB >> 3189328

Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

B S Emanuel1.   

Abstract

Mesh：

Year:  1988        PMID： 3189328      PMCID： PMC1715556     

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


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  11 in total

Review 1.  Reverse genetics and human disease.

Authors:  S H Orkin
Journal:  Cell       Date:  1986-12-26       Impact factor: 41.582

2.  Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors:  C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

Review 3.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

4.  Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients.

Authors:  Y Ejima; M S Sasaki; A Kaneko; H Tanooka
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

5.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

6.  Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.

Authors:  L M Davis; R Stallard; G H Thomas; P Couillin; C Junien; N J Nowak; T B Shows
Journal:  Science       Date:  1988-08-12       Impact factor: 47.728

7.  Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

Authors:  P vanTuinen; W B Dobyns; D C Rich; K M Summers; T J Robinson; Y Nakamura; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

8.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

9.  Segmental aneuploidy and the genetic gross structure of the Drosophila genome.

Authors:  D L Lindsley; L Sandler; B S Baker; A T Carpenter; R E Denell; J C Hall; P A Jacobs; G L Miklos; B K Davis; R C Gethmann; R W Hardy; A H Steven; M Miller; H Nozawa; D M Parry; M Gould-Somero; M Gould-Somero
Journal:  Genetics       Date:  1972-05       Impact factor: 4.562

10.  Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation.

Authors:  N Niikawa; S Ishikiriyama
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  25 in total

1.  Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

Authors:  C Desmaze; J F Deleuze; A M Dutrillaux; G Thomas; M Hadchouel; A Aurias
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 2.  Syndromes associated with simple calvarial and complex craniofacial anomalies.

Authors:  P Iannetti; L Chessa; G Iannetti
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475

3.  Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.

Authors:  A M Sharkey; L McLaren; M Carroll; J Fantes; D Green; D Wilson; P J Scambler; H J Evans
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

4.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

5.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

6.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

7.  Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry.

Authors:  A Cooke; J L Tolmie; J M Colgan; C M Greig; J M Connor
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

8.  Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

Authors:  R Wadey; S Daw; A Wickremasinghe; C Roberts; D Wilson; J Goodship; J Burn; S Halford; P J Scambler
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

9.  Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

Authors:  S V Hodgson; A S Coonar; P J Hanson; S Cottrell; P N Scriven; T Jones; P R Hawley; M L Wilkinson
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

10.  The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.

Authors:  G A Silverman; S S Schneider; H F Massa; A Flint; M Lalande; J C Leonard; J Overhauser; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025
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