Literature DB >> 12920081

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

A Alvarez, I del Castillo, A Pera, M Villamar, M A Moreno-Pelayo, T Rivera, J Solanellas, F Moreno.   

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Year:  2003        PMID： 12920081      PMCID： PMC1735568          DOI： 10.1136/jmg.40.8.636

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


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  4 in total

1.  The ratio of maternal to paternal UPD associated with recessive diseases.

Authors:  Angela M Vianna-Morgante
Journal:  Hum Genet       Date:  2005-05-14       Impact factor: 4.132

2.  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 3.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Authors:  Joel Zlotogora
Journal:  Hum Genet       Date:  2004-03-16       Impact factor: 4.132

4.  Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Authors:  Satoko Abe; Shin-Ya Nishio; Yoh Yokota; Hideaki Moteki; Kozo Kumakawa; Shin-Ichi Usami
Journal:  Clin Case Rep       Date:  2018-09-21
  4 in total

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