Literature DB >> 1685704

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.

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Year:  1991        PMID： 1685704     DOI： 10.1159/000133716

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


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  9 in total

Review 1.  Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

Authors:  C P Chen; C C Lee; L F Chen; C Y Chuang; S W Jan; B F Chen
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12.

Authors:  M Seki; H Miyazawa; S Tada; J Yanagisawa; T Yamaoka; S Hoshino; K Ozawa; T Eki; M Nogami; K Okumura
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Authors:  N Tommerup; Z Tümer; T Tønnesen; N Horn
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Authors:  B Benzacken; J P Siffroi; C Le Bourhis; K Krabchi; N Joyé; F Maschino; F Viguié; J Soulié; M Gonzales; G Migné; M Bucourt; F Encha-Razavi; L Carbillon; J L Taillemite
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

6.  Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.

Authors:  M R Passos-Bueno; I Richard; M Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; S K Marie; A A Carvalho
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

7.  Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

Authors:  P Höglund; C Holmberg; A de la Chapelle; J Kere
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

Authors:  M Muenke; L J Bone; H F Mitchell; I Hart; K Walton; K Hall-Johnson; E F Ippel; J Dietz-Band; K Kvaløy; C M Fan
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

9.  Physical mapping of the holoprosencephaly critical region in 18p11.3.

Authors:  J Overhauser; H F Mitchell; E H Zackai; D B Tick; K Rojas; M Muenke
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  9 in total

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