Literature DB >> 7666408

UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.

H Slater, J H Shaw, A Bankier, S M Forrest, G Dawson.   

Abstract

Mesh:

Year:  1995        PMID: 7666408      PMCID: PMC1050497          DOI: 10.1136/jmg.32.6.493

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  1 in total

1.  Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

Authors:  H Slater; J H Shaw; G Dawson; A Bankier; S M Forrest
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

  1 in total
  4 in total

1.  Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF.

Authors:  Elizabeth X Wu; Andrew D Wilson; Edgar Chan Wong; Jon C Havelock; Sai Ma
Journal:  J Assist Reprod Genet       Date:  2013-04-27       Impact factor: 3.412

Review 2.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

3.  Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

Authors:  Laura Anesi; Paola de Gemmis; Massimo Pandolfo; Uros Hladnik
Journal:  J Mol Neurosci       Date:  2010-09-18       Impact factor: 3.444

Review 4.  Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2014-04
  4 in total

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