Literature DB >> 12676901

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi.   

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Year:  2003        PMID： 12676901      PMCID： PMC1735419          DOI： 10.1136/jmg.40.4.285

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


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  18 in total

1.  Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Authors:  Annemieke J M H Verkerk; Rachel Schot; Laura van Waterschoot; Hannie Douben; Pino J Poddighe; Maarten H Lequin; Linda S de Vries; Paulien Terhal; Johanne M D Hahnemann; Irenaeus F M de Coo; Marie-Claire Y de Wit; Leontien S Wafelman; Livia Garavelli; William B Dobyns; Peter J Van der Spek; Annelies de Klein; Grazia M S Mancini
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.

Authors:  Francesco Nicita; Luigi Tarani; Alberto Spalice; Marina Grasso; Laura Papetti; Massimiliano Cecconi; Claudio Di Biasi; Fabiana Ursitti; Paola Iannetti
Journal:  J Genet       Date:  2011-04       Impact factor: 1.166

3.  Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Authors:  Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Ko-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2003-04-09       Impact factor: 11.025

4.  Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

Authors:  Remco Visser; Osamu Shimokawa; Naoki Harada; Akira Kinoshita; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2004-11-16       Impact factor: 11.025

5.  Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Authors:  Joanna Kenny; Melissa M Lees; Susan Drury; Angela Barnicoat; William Van't Hoff; Rodger Palmer; Deborah Morrogh; Jonathan J Waters; Nicholas J Lench; Detlef Bockenhauer
Journal:  Pediatr Nephrol       Date:  2011-05-20       Impact factor: 3.714

6.  Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Authors:  J A Rosenfeld; K H Kim; B Angle; R Troxell; J L Gorski; M Westemeyer; M Frydman; Y Senturias; D Earl; B Torchia; R A Schultz; J W Ellison; K Tsuchiya; S Zimmerman; T A Smolarek; B C Ballif; L G Shaffer
Journal:  Mol Syndromol       Date:  2013-01-05

7.  Nizp1, a novel multitype zinc finger protein that interacts with the NSD1 histone lysine methyltransferase through a unique C2HR motif.

Authors:  Anders Lade Nielsen; Poul Jørgensen; Thierry Lerouge; Margarita Cerviño; Pierre Chambon; Régine Losson
Journal:  Mol Cell Biol       Date:  2004-06       Impact factor: 4.272

8.  Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Authors:  Katrina Tatton-Brown; Jenny Douglas; Kim Coleman; Genevieve Baujat; Trevor R P Cole; Soma Das; Denise Horn; Helen E Hughes; I Karen Temple; Francesca Faravelli; Darrel Waggoner; Seval Turkmen; Valerie Cormier-Daire; Alexandre Irrthum; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2005-06-07       Impact factor: 11.025

Review 9.  Chromosomal phenotypes and submicroscopic abnormalities.

Authors:  Koen Devriendt; Joris R Vermeesch
Journal:  Hum Genomics       Date:  2004-01       Impact factor: 4.639

10.  Generation of the Sotos syndrome deletion in mice.

Authors:  Anna M Migdalska; Louise van der Weyden; Ozama Ismail; Alistair G Rust; Mamunur Rashid; Jacqueline K White; Gabriela Sánchez-Andrade; James R Lupski; Darren W Logan; Mark J Arends; David J Adams
Journal:  Mamm Genome       Date:  2012-08-29       Impact factor: 2.957
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