Literature DB >> 7977389

De novo mutation in three families with multigenerational incontinentia pigmenti.

A Scheuerle, R A Lewis, M L Levy, D L Nelson.   

Abstract

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Year:  1994        PMID： 7977389      PMCID： PMC1918424     

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


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  12 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Identification of a second pseudoautosomal region near the Xq and Yq telomeres.

Authors:  D Freije; C Helms; M S Watson; H Donis-Keller
Journal:  Science       Date:  1992-12-11       Impact factor: 47.728

3.  MENDELIAN PROPORTIONS IN A MIXED POPULATION.

Authors:  G H Hardy
Journal:  Science       Date:  1908-07-10       Impact factor: 47.728

4.  The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors:  I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

5.  Automated DNA sequencing of the human HPRT locus.

Authors:  A Edwards; H Voss; P Rice; A Civitello; J Stegemann; C Schwager; J Zimmermann; H Erfle; C T Caskey; W Ansorge
Journal:  Genomics       Date:  1990-04       Impact factor: 5.736

6.  Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene.

Authors:  M R Lalloz; J H McVey; J K Pattinson; E G Tuddenham
Journal:  Lancet       Date:  1991-07-27       Impact factor: 79.321

7.  Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.

Authors:  G J Riggins; S L Sherman; B A Oostra; J S Sutcliffe; D Feitell; D L Nelson; B A van Oost; A P Smits; F J Ramos; E Pfendner
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

8.  Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Authors:  A Sefiani; R M'rad; L Simard; A Vincent; C Julier; L Holvoet-Vermaut; S Heuertz; N Dahl; J F Stalder; M O Peter
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

9.  Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

Authors:  C Hydén-Granskog; R Salonen; H von Koskull
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

10.  The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Authors:  A Smahi; C Hyden-Granskog; B Peterlin; P Vabres; S Heuertz; M C Fulchignoni-Lataud; N Dahl; P Labrune; B Le Marec; C Piussan
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  1 in total

1.  Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Authors:  T T Kirchman; M L Levy; R A Lewis; M H Kanzler; D L Nelson; A E Scheuerle
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  1 in total

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