Literature DB >> 15214020

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy.

Takashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, Kiyoshi Hayasaka, Shunji Yamamori, Tsutomu Ogata.   

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Year:  2004        PMID： 15214020     DOI： 10.1002/ajmg.a.20552

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


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  11 in total

1.  Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Authors:  Yann Heuzé; Gregory Holmes; Inga Peter; Joan T Richtsmeier; Ethylin Wang Jabs
Journal:  Curr Genet Med Rep       Date:  2014-09-01

Review 2.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Authors:  Wanda Lattanzi; Nenad Bukvic; Marta Barba; Gianpiero Tamburrini; Camilla Bernardini; Fabrizio Michetti; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

Review 3.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

4.  Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Authors:  Lampros A Mavrogiannis; Indira B Taylor; Sally J Davies; Feliciano J Ramos; José L Olivares; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2006-02       Impact factor: 4.246

5.  Large parietal midline defect with unusual ridge-like structure at the rim and persistent falcine sinus.

Authors:  Chin-An Yang; Steven Shinn-Forng Peng; Wu-Shiun Hsieh; Po-Nien Tsao; Chien-Yi Chen; Hung-Chieh Chou
Journal:  Childs Nerv Syst       Date:  2013-04-05       Impact factor: 1.475

6.  Liver biopsy derived induced pluripotent stem cells provide unlimited supply for the generation of hepatocyte-like cells.

Authors:  Diego Calabrese; Guglielmo Roma; Sebastian Bergling; Walter Carbone; Valentina Mele; Sandro Nuciforo; Isabel Fofana; Benedetta Campana; Dagmara Szkolnicka; David C Hay; Jan Tchorz; Tewis Bouwmeester; Stefan Wieland; Markus H Heim
Journal:  PLoS One       Date:  2019-08-29       Impact factor: 3.240

7.  A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.

Authors:  Alyssa C M Joynt; Ashish R Deshwar; Jessica Zon; Lucie Dupuis; Diane K Wherrett; Roberto Mendoza-Londono
Journal:  Mol Genet Genomic Med       Date:  2021-10-08       Impact factor: 2.183

8.  MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.

Authors:  Karla de Oliveira Pelegrino; Sofia Sugayama; Karina Lezirovitz; Ana Lúcia Catelani; Fernando Kok; Maria de Lourdes Chauffaille
Journal:  Clinics (Sao Paulo)       Date:  2012-08       Impact factor: 2.365

9.  A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

Authors:  Izabella Körberg; Daniel Nowinski; Marie-Louise Bondeson; Malin Melin; Lars Kölby; Eva-Lena Stattin
Journal:  BMC Med Genet       Date:  2020-05-05       Impact factor: 2.103

10.  A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Authors:  Toshimitsu Suzuki; Toshifumi Suzuki; Matthieu Raveau; Noriko Miyake; Genki Sudo; Yoshinori Tsurusaki; Takaki Watanabe; Yuki Sugaya; Tetsuya Tatsukawa; Emi Mazaki; Atsushi Shimohata; Itaru Kushima; Branko Aleksic; Tomoko Shiino; Tomoko Toyota; Yoshimi Iwayama; Kentaro Nakaoka; Iori Ohmori; Aya Sasaki; Ken Watanabe; Shinichi Hirose; Sunao Kaneko; Yushi Inoue; Takeo Yoshikawa; Norio Ozaki; Masanobu Kano; Takeyoshi Shimoji; Naomichi Matsumoto; Kazuhiro Yamakawa
Journal:  Ann Clin Transl Neurol       Date:  2020-06-12       Impact factor: 4.511
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