Literature DB >> 24042343

Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.

Sanae Numata1, Takahiro Hamada2, Kwesi Teye1, Mitsuhiro Matsuda1, Norito Ishii1, Tadashi Karashima1, Kenji Kabashima3, Minao Furumura1, Chika Ohata1, Takashi Hashimoto4.   

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Year:  2013        PMID： 24042343     DOI： 10.1038/jid.2013.398

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  13 in total

Review 1.  Imprinted genes in the placenta--a review.

Authors:  P M Coan; G J Burton; A C Ferguson-Smith
Journal:  Placenta       Date:  2005-04       Impact factor: 3.481

Review 2.  Uniparental disomy.

Authors:  Dawn H Siegel; Anne Slavotinek
Journal:  Pediatr Dermatol       Date:  2005 Sep-Oct       Impact factor: 1.588

Review 3.  A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.

Authors:  Eric Engel
Journal:  Eur J Hum Genet       Date:  2006-05-17       Impact factor: 4.246

4.  Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Authors:  Emmanuelle Bitoun; Stéphane Chavanas; Alan D Irvine; Lorne Lonie; Christine Bodemer; Mauro Paradisi; Dominique Hamel-Teillac; Shin-ichi Ansai; Yoshihiko Mitsuhashi; Alain Taïeb; Yves de Prost; Giovanna Zambruno; John I Harper; Alain Hovnanian
Journal:  J Invest Dermatol       Date:  2002-02       Impact factor: 8.551

5.  Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Authors:  Dieter Kotzot; Gerd Utermann
Journal:  Am J Med Genet A       Date:  2005-07-30       Impact factor: 2.802

Review 6.  Mechanisms leading to uniparental disomy and their clinical consequences.

Authors:  W P Robinson
Journal:  Bioessays       Date:  2000-05       Impact factor: 4.345

Review 7.  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

Review 8.  The role of imprinted genes in fetal growth.

Authors:  Monica Miozzo; Giuseppe Simoni
Journal:  Biol Neonate       Date:  2002

9.  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

10.  Netherton syndrome: mutation analysis of two Taiwanese families.

Authors:  Shuan-Pei Lin; Shu-Yi Huang; Mei-Eng Tu; Yu-Hung Wu; Cheng-Yueh Lin; Hsiang-Yu Lin; Guey-Jen Lee-Chen
Journal:  Arch Dermatol Res       Date:  2007-04-06       Impact factor: 3.017
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  5 in total

Review 1.  Netherton Syndrome: A Genotype-Phenotype Review.

Authors:  Constantina A Sarri; Angeliki Roussaki-Schulze; Yiannis Vasilopoulos; Efterpi Zafiriou; Aikaterini Patsatsi; Costas Stamatis; Polyxeni Gidarokosta; Dimitrios Sotiriadis; Theologia Sarafidou; Zissis Mamuris
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

2.  Hepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia.

Authors:  Michelle F Jacobs; Bailey Anderson; Valerie P Opipari; Rajen Mody
Journal:  J Pediatr Hematol Oncol       Date:  2020-08       Impact factor: 1.170

3.  Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Authors:  Mariarosa A B Melone; Michael J Pellegrino; Maria Nolano; Beth A Habecker; Stefan Johansson; Neil M Nathanson; Per M Knappskog; Angelika F Hahn; Helge Boman
Journal:  Ann Clin Transl Neurol       Date:  2014-10-24       Impact factor: 4.511

4.  Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Authors:  Geun-Young Park; Dae-Hyun Jang; Dong-Woo Lee; Ja-Hyun Jang; Joungsu Joo
Journal:  Front Genet       Date:  2019-10-31       Impact factor: 4.599

5.  Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Authors:  Lei Zhang; Yanqiu Hu; Jingjing Lu; Peiwei Zhao; Xiankai Zhang; Li Tan; Jun Li; Cuiping Xiao; Linkong Zeng; Xuelian He
Journal:  Front Genet       Date:  2022-08-08       Impact factor: 4.772
  5 in total

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