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Results: 1 to 20 of 43

PubMed Links for Books (Select 1466902)

1.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N.

Oncotarget. 2011 Dec;2(12):1127-33.

2.

Mutations in EZH2 cause Weaver syndrome.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ.

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

3.

Left ventricular noncompaction in Sotos syndrome.

Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL.

Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11.

PMID:
21484993
4.

A clinical study of Sotos syndrome patients with review of the literature.

Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H.

Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Review.

PMID:
19380072
5.

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, Råstam M, Silverman JM, Hollander E, Gillberg C, Leboyer M, Betancur C.

BMC Med Genet. 2007 Nov 14;8:68.

6.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L.

Hum Mutat. 2007 Nov;28(11):1098-107.

PMID:
17565729
7.

Sotos syndrome.

Tatton-Brown K, Rahman N.

Eur J Hum Genet. 2007 Mar;15(3):264-71. Epub 2006 Sep 13.

8.

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.

Scott RH, Walker L, Olsen ØE, Levitt G, Kenney I, Maher E, Owens CM, Pritchard-Jones K, Craft A, Rahman N.

Arch Dis Child. 2006 Dec;91(12):995-9. Epub 2006 Jul 20. Review.

10.

The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.

Tei S, Tsuneishi S, Matsuo M.

Kobe J Med Sci. 2006;52(1-2):1-8.

11.

Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?

Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N.

Am J Med Genet A. 2006 Jan 1;140(1):70-3.

PMID:
16329110
12.

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

Cytrynbaum CS, Smith AC, Rubin T, Weksberg R.

Curr Opin Pediatr. 2005 Dec;17(6):740-6. Review.

PMID:
16282780
13.

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions.

Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N.

J Med Genet. 2005 Nov;42(11):e66.

14.

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S.

Genet Med. 2005 Oct;7(8):524-33.

PMID:
16247291
15.

Familial gigantism caused by an NSD1 mutation.

van Haelst MM, Hoogeboom JJ, Baujat G, Brüggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ.

Am J Med Genet A. 2005 Nov 15;139(1):40-4.

PMID:
16222665
16.

Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.

de Boer L, le Cessie S, Wit JM.

Acta Paediatr. 2005 Aug;94(8):1142-4.

PMID:
16188863
17.

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.

Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N.

J Med Genet. 2005 Sep;42(9):e56.

18.

NSD1 mutations in Sotos syndrome.

Faravelli F.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):24-31. Review.

PMID:
16010675
19.

Speech-language characteristics of children with Sotos syndrome.

Ball LJ, Sullivan MD, Dulany S, Stading K, Schaefer GB.

Am J Med Genet A. 2005 Aug 1;136A(4):363-7.

PMID:
16001444
20.

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

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration.

Am J Hum Genet. 2005 Aug;77(2):193-204. Epub 2005 Jun 7.

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