Literature DB >> 21082656

Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

John Waterson1, Tracy L Stockley, Summer Segal, Mahin Golabi.   

Abstract

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Year:  2010        PMID： 21082656     DOI： 10.1002/ajmg.a.33450

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


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  7 in total

Review 1.  The Role of Glypicans in Cancer Progression and Therapy.

Authors:  Nan Li; Madeline R Spetz; Mitchell Ho
Journal:  J Histochem Cytochem       Date:  2020-07-06       Impact factor: 2.479

2.  Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Authors:  David J Amor; Sarah E M Stephenson; Mirna Mustapha; Martin A Mensah; Charlotte W Ockeloen; Wei Shern Lee; Rick M Tankard; Dean G Phelan; Marwan Shinawi; Arjan P M de Brouwer; Rolph Pfundt; Cari Dowling; Tomi L Toler; V Reid Sutton; Emanuele Agolini; Martina Rinelli; Rossella Capolino; Diego Martinelli; Giuseppe Zampino; Miroslav Dumić; William Reardon; Charles Shaw-Smith; Richard J Leventer; Martin B Delatycki; Tjitske Kleefstra; Stefan Mundlos; Geert Mortier; Melanie Bahlo; Nicola J Allen; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2019-04-11       Impact factor: 11.025

Review 3.  Syndecans in cartilage breakdown and synovial inflammation.

Authors:  Thomas Pap; Jessica Bertrand
Journal:  Nat Rev Rheumatol       Date:  2012-10-23       Impact factor: 20.543

4.  CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Authors:  Marie-Laure Vuillaume; Marie-Pierre Moizard; Alessandra Baumer; Edouard Cottereau; Frédéric Brioude; Anita Rauch; Annick Toutain
Journal:  Eur J Hum Genet       Date:  2019-01-25       Impact factor: 4.246

Review 5.  Simpson-Golabi-Behmel syndrome types I and II.

Authors:  Jair Tenorio; Pedro Arias; Víctor Martínez-Glez; Fernando Santos; Sixto García-Miñaur; Julián Nevado; Pablo Lapunzina
Journal:  Orphanet J Rare Dis       Date:  2014-09-20       Impact factor: 4.123

6.  Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses.

Authors:  Jingjing Xiang; Qin Zhang; Xiaoyan Song; Yinghua Liu; Haibo Li; Hong Li; Ting Wang
Journal:  J Int Med Res       Date:  2019-07-15       Impact factor: 1.671

Review 7.  Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

Authors:  Laura Fontana; Silvia Tabano; Silvia Maitz; Patrizia Colapietro; Emanuele Garzia; Alberto Giovanni Gerli; Silvia Maria Sirchia; Monica Miozzo
Journal:  Int J Mol Sci       Date:  2021-03-26       Impact factor: 5.923
  7 in total

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