Literature DB >> 8404034

Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993.

D Schlessinger, J L Mandel, A P Monaco, D L Nelson, H F Willard.   

Abstract

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Year:  1993        PMID： 8404034     DOI： 10.1159/000133572

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


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  12 in total

1.  Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.

Authors:  V M Park; R R Bravo; L P Shulman
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

2.  Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Authors:  W Berger; G van Duijnhoven; A Pinckers; A Smits; H H Ropers; F Cremers
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

3.  Characterization of four human YAC libraries for clone size, chimerism and X chromosome sequence representation.

Authors:  R Nagaraja; J Kere; S MacMillan; M J Masisi; D Johnson; B J Molini; G R Halley; K Wein; M Trusgnich; B Eble
Journal:  Nucleic Acids Res       Date:  1994-08-25       Impact factor: 16.971

4.  Mapping of loci and translocation breakpoints in Xq13: isolation of a conserved locus that maps close to CCG1 in human and mouse.

Authors:  V Reed; S H Laval; V McCabe; H F Willard; Y Boyd
Journal:  Mamm Genome       Date:  1994-04       Impact factor: 2.957

5.  Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

Authors:  D G Bichet; M Birnbaumer; M Lonergan; M F Arthus; W Rosenthal; P Goodyer; H Nivet; S Benoit; P Giampietro; S Simonetti
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

6.  X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Authors:  A K Gedeon; M J Wilson; A C Colley; D O Sillence; J C Mulley
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

7.  Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.

Authors:  F A Hol; M P Geurds; O Jensson; B C Hamel; G E Moore; R Newton; E C Mariman
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

8.  Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Authors:  M Chery; V Biancalana; C Philippe; G Malpuech; H Carla; S Gilgenkrantz; J L Mandel; A Hanauer
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

9.  Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.

Authors:  D F Callen; H J Eyre; G Dolman; M B Garry-Battersby; J R McCreanor; A Valeba; J J McGill
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

Review 10.  Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

Authors:  D J Wolff; C J Brown; S Schwartz; A M Duncan; U Surti; H F Willard
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
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