Literature DB >> 15895256

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

Angela M Vianna-Morgante.   

Abstract

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Year:  2005        PMID： 15895256     DOI： 10.1007/s00439-005-1311-2

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  30 in total

1.  Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7.

Authors:  U Hehr; S Dörr; M Hagemann; I Hansmann; U Preiss; S Brömme
Journal:  Am J Med Genet       Date:  2000-03-20

2.  Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.

Authors:  A L Beaudet; R G Perciaccante; G R Cutting
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Authors:  A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

4.  Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

Authors:  B Bakker; H Bikker; R C Hennekam; E J Lommen; M G Schipper; T Vulsma; J J de Vijlder
Journal:  J Clin Endocrinol Metab       Date:  2001-03       Impact factor: 5.958

5.  Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Authors:  Y Jin; H C Dietz; R A Montgomery; W R Bell; I McIntosh; B Coller; P F Bray
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

6.  Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.

Authors:  Y Takizawa; L Pulkkinen; S C Chao; H Nakajima; Y Nakano; H Shimizu; J Uitto
Journal:  J Invest Dermatol       Date:  2000-08       Impact factor: 8.551

7.  Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Authors:  Lucia Bartoloni; Jean-Louis Blouin; Yanzhen Pan; Corinne Gehrig; Amit K Maiti; Nathalie Scamuffa; Colette Rossier; Mark Jorissen; Miguel Armengot; Maggie Meeks; Hannah M Mitchison; Eddie M K Chung; Celia D Delozier-Blanchet; William J Craigen; Stylianos E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  2002-07-25       Impact factor: 11.205

8.  Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Authors:  Ute Spiekerkoetter; Angela Eeds; Zou Yue; Jonathan Haines; Arnold W Strauss; Marshall Summar
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

9.  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.

Authors:  A Alvarez; I del Castillo; A Pera; M Villamar; M A Moreno-Pelayo; T Rivera; J Solanellas; F Moreno
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

10.  Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

Authors:  L M Brzustowicz; B A Allitto; D Matseoane; R Theve; L Michaud; S Chatkupt; E Sugarman; G K Penchaszadeh; L Suslak; M R Koenigsberger
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025
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  1 in total

1.  Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.

Authors:  Karen Stephens; Molly Weaver; Kathleen A Leppig; Kyoko Maruyama; Peter D Emanuel; Michelle M Le Beau; Kevin M Shannon
Journal:  Blood       Date:  2006-05-11       Impact factor: 22.113
  1 in total

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