Literature DB >> 11182935

Mosaicism in Alport syndrome with genetic counselling.

M Bruttini, F Vitelli, I Meloni, G Rizzari, M D Volpe, G Mazzucco, M D Marchi, A Renieri.   

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Year:  2000        PMID： 11182935      PMCID： PMC1734698          DOI： 10.1136/jmg.37.9.717

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


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  7 in total

1.  Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

Authors:  Takayuki Okamoto; Kandai Nozu; Kazumoto Iijima; Tadashi Ariga
Journal:  J Nephrol       Date:  2018-07-30       Impact factor: 3.902

2.  Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

Authors:  Xue Jun Fu; Kandai Nozu; Hiroshi Kaito; Takeshi Ninchoji; Naoya Morisada; Koichi Nakanishi; Norishige Yoshikawa; Hiromi Ohtsubo; Natsuki Matsunoshita; Naohiro Kamiyoshi; Chieko Matsumura; Nobuaki Takagi; Kohei Maekawa; Mariko Taniguchi-Ikeda; Kazumoto Iijima
Journal:  Eur J Hum Genet       Date:  2015-05-27       Impact factor: 4.246

Review 3.  Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Authors:  Judy Savige; Francesca Ariani; Francesca Mari; Mirella Bruttini; Alessandra Renieri; Oliver Gross; Constantinos Deltas; Frances Flinter; Jie Ding; Daniel P Gale; Mato Nagel; Michael Yau; Lev Shagam; Roser Torra; Elisabet Ars; Julia Hoefele; Guido Garosi; Helen Storey
Journal:  Pediatr Nephrol       Date:  2018-07-09       Impact factor: 3.714

4.  Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Authors:  Xiaojing Xu; Xiaoxu Yang; Qixi Wu; Aijie Liu; Xiaoling Yang; Adam Yongxin Ye; August Yue Huang; Jiarui Li; Meng Wang; Zhe Yu; Sheng Wang; Zhichao Zhang; Xiru Wu; Liping Wei; Yuehua Zhang
Journal:  Hum Mutat       Date:  2015-07-24       Impact factor: 4.878

5.  A characterization of postzygotic mutations identified in monozygotic twins.

Authors:  Klaasjan G Ouwens; Rick Jansen; Bas Tolhuis; P Eline Slagboom; Brenda W J H Penninx; Dorret I Boomsma
Journal:  Hum Mutat       Date:  2018-07-18       Impact factor: 4.878

6.  Assessment of the gene mosaicism burden in blood and its implications for immune disorders.

Authors:  Manuel Solís-Moruno; Anna Mensa-Vilaró; Laura Batlle-Masó; Irene Lobón; Núria Bonet; Tomàs Marquès-Bonet; Juan I Aróstegui; Ferran Casals
Journal:  Sci Rep       Date:  2021-06-21       Impact factor: 4.379

7.  An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

Authors:  Marivi Cervera-Gaviria; Miguel Angel Alcántara-Ortigoza; Ariadna González-Del Angel; Paola Moyers-Pérez; Blanca Gabriela Lizet Legorreta-Ramírez; Nancy Barrera-Carmona; Jaime Cervera-Gaviria
Journal:  BMC Neurol       Date:  2016-08-22       Impact factor: 2.474
  7 in total

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