Literature DB >> 31502654

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Rebecca Higgins1, Annika N Jensen, Julian Wachstein, Leena Bruckner-Tuderman, Roland Spiegel, Hubert Traber, Josef Achermann, Martin Schaller, Birgit Fehrenbacher, Martin Röcken, Desislava Ignatova, Yun-Tsan Chang, Tina Fischer, Agnes E Schwieger-Briel, Lars E French, Wolfram Hoetzenecker, René Hornung, Andreas Malzacher, Antonio Cozzio, Alexander Navarini, Cristina Has, Emmanuella Guenova.   

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Year:  2020        PMID： 31502654      PMCID： PMC9128983          DOI： 10.2340/00015555-3313

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  10 in total

1.  Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

Authors:  L Pulkkinen; F Bullrich; P Czarnecki; L Weiss; J Uitto
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

Authors:  Marco Castori; Giovanna Floriddia; Elisa Pisaneschi; Claudia Covaciu; Mauro Paradisi; Isabella Torrente; Daniele Castiglia
Journal:  J Dermatol Sci       Date:  2008-04-01       Impact factor: 4.563

3.  Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

Authors:  F Bernasconi; A Karagüzel; F Celep; I Keser; G Lüleci; F Dutly; A A Schinzel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

4.  Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.

Authors:  W F Hansen; L E Bernard; S Langlois; K W Rao; N C Chescheir; A S Aylsworth; D I Smith; W P Robinson; I J Barrett; D K Kalousek
Journal:  Prenat Diagn       Date:  1997-05       Impact factor: 3.050

5.  Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.

Authors:  Vadim Lincoln; Jon Cogan; Yingping Hou; Michaela Hirsch; Michelle Hao; Vitali Alexeev; Michele De Luca; Laura De Rosa; Johann W Bauer; David T Woodley; Mei Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-26       Impact factor: 11.205

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.  Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.

Authors:  E Heide; K G Heide; A Rodewald
Journal:  Am J Med Genet       Date:  2000-06-05

8.  Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

Authors:  Hiva Fassihi; Liu Lu; Vesarat Wessagowit; Linda C Ozoemena; Catherine A Jones; Patricia J C Dopping-Hepenstal; Lesley Foster; David J Atherton; Jemima E Mellerio; John A McGrath
Journal:  J Invest Dermatol       Date:  2006-05-18       Impact factor: 8.551

9.  Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

Authors:  Kensaku Sasaki; Hiroyuki Mishima; Kiyonori Miura; Koh-Ichiro Yoshiura
Journal:  Gene       Date:  2012-10-27       Impact factor: 3.688

10.  Aneuploidy in Early Miscarriage and its Related Factors.

Authors:  Chan-Wei Jia; Li Wang; Yong-Lian Lan; Rui Song; Li-Yin Zhou; Lan Yu; Yang Yang; Yu Liang; Ying Li; Yan-Min Ma; Shu-Yu Wang
Journal:  Chin Med J (Engl)       Date:  2015-10-20       Impact factor: 2.628
  10 in total
  1 in total

1.  Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.

Authors:  Fatma Kivrak Pfiffner; Samuel Koller; Anika Ménétrey; Urs Graf; Luzy Bähr; Alessandro Maspoli; Annette Hackenberg; Raimund Kottke; Christina Gerth-Kahlert; Wolfgang Berger
Journal:  Int J Mol Sci       Date:  2022-07-02       Impact factor: 6.208
  1 in total

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