Literature DB >> 18924226

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype.

Birgit Zirn1, Maja Hempel, Andreas Hahn, Bernd Neubauer, Janine Wagenstaller, Núria Rivera-Bruguès, Tim Matthias Strom, Angelika Köhler.   

Abstract

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Year:  2008        PMID： 18924226     DOI： 10.1002/ajmg.a.32536

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Phenotype mining in CNV carriers from a population cohort.

Authors:  Olli P H Pietiläinen; Karola Rehnström; Eveliina Jakkula; Susan K Service; Eliza Congdon; Carola Tilgmann; Anna-Liisa Hartikainen; Anja Taanila; Ulla Heikura; Tiina Paunio; Samuli Ripatti; Marjo-Riitta Jarvelin; Matti Isohanni; Chiara Sabatti; Aarno Palotie; Nelson B Freimer; Leena Peltonen
Journal:  Hum Mol Genet       Date:  2011-04-19       Impact factor: 6.150

2.  Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Authors:  Patrícia Bs Celestino-Soper; Cindy Skinner; Richard Schroer; Patricia Eng; Jayant Shenai; Malgorzata Mj Nowaczyk; Deborah Terespolsky; Donna Cushing; Gayle S Patel; Ladonna Immken; Alecia Willis; Joanna Wiszniewska; Reuben Matalon; Jill A Rosenfeld; Roger E Stevenson; Sung-Hae L Kang; Sau Wai Cheung; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Mol Cytogenet       Date:  2012-04-05       Impact factor: 2.009

3.  Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Authors:  Linda Siggberg; Aki Mustonen; Robert Schuit; Gajja S Salomons; Birthe Roos; K Michael Gibson; Cornelis Jakobs; Jaakko Ignatius; Sakari Knuutila
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-03-22       Impact factor: 3.568

4.  Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Authors:  Tuva Barøy; Doriana Misceo; Petter Strømme; Asbjørg Stray-Pedersen; Asbjørn Holmgren; Olaug Kristin Rødningen; Anne Blomhoff; Johan Robert Helle; Alice Stormyr; Bjørn Tvedt; Madeleine Fannemel; Eirik Frengen
Journal:  Orphanet J Rare Dis       Date:  2013-01-07       Impact factor: 4.123

5.  Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.

Authors:  Nikolaos Vrachnis; Ioannis Papoulidis; Dionysios Vrachnis; Elisavet Siomou; Nikolaos Antonakopoulos; Stavroula Oikonomou; Dimitrios Zygouris; Nikolaos Loukas; Zoi Iliodromiti; Efterpi Pavlidou; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Mol Cytogenet       Date:  2021-07-24       Impact factor: 2.009
  5 in total

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