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    Results: 1 to 20 of 321

    1.

    Sotos syndrome.

    Baujat G, Cormier-Daire V.

    Orphanet J Rare Dis. 2007 Sep 7;2:36. Review.PMID: 17825104 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

    Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N.

    Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2.PMID: 12464997 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

    Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V.

    J Med Genet. 2003 Jun;40(6):436-40.PMID: 12807965 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

    Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.

    Eur J Med Genet. 2009 Sep-Oct;52(5):333-6. Epub 2009 Jul 9.PMID: 19596467 [PubMed - indexed for MEDLINE]Related articles

    5.

    Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

    Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D.

    Eur J Hum Genet. 2003 Nov;11(11):858-65.PMID: 14571271 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    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 [PubMed - indexed for MEDLINE]Related articles

    7.

    Clinical features of NSD1-positive Sotos syndrome.

    Tatton-Brown K, Rahman N.

    Clin Dysmorphol. 2004 Oct;13(4):199-204.PMID: 15365454 [PubMed - indexed for MEDLINE]Related articles

    8.

    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 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.PMID: 18001468 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

    Tong TM, Hau EW, Lo IF, Chan DH, Lam ST.

    Chin Med J (Engl). 2005 Sep 20;118(18):1499-506.PMID: 16232326 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature]

    Kessler H, Kraft S.

    Neuropsychiatr. 2008;22(1):38-42. Review. German. PMID: 18381056 [PubMed - indexed for MEDLINE]Related articles

    12.

    Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

    de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM.

    Horm Res. 2004;62(4):197-207. Epub 2004 Sep 24.PMID: 15452385 [PubMed - indexed for MEDLINE]Related articles

    13.

    Molecular basis of Sotos syndrome.

    Niikawa N.

    Horm Res. 2004;62 Suppl 3:60-5. Review.PMID: 15539801 [PubMed - indexed for MEDLINE]Related articles

    14.

    Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

    Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.

    Am J Hum Genet. 2004 Apr;74(4):715-20. Epub 2004 Mar 1.PMID: 14997421 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    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.PMID: 15942875 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.

    Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, Losson R, Alaminos M, Cheung NK, Rahman N, Esteller M.

    Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21830-5. Epub 2009 Dec 14.PMID: 20018718 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Multiple giant pilomatricoma in familial Sotos syndrome.

    Gilaberte Y, Ferrer-Lozano M, Oliván MJ, Coscojuela C, Abascal M, Lapunzina P.

    Pediatr Dermatol. 2008 Jan-Feb;25(1):122-5. Review.PMID: 18304174 [PubMed - indexed for MEDLINE]Related articles

    18.

    Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

    Duno M, Skovby F, Schwartz M.

    Ann Hum Genet. 2007 Nov;71(Pt 6):713-8. Epub 2007 Jun 11.PMID: 17561922 [PubMed - indexed for MEDLINE]Related articles

    19.

    GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

    Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R.

    Am J Med Genet. 2001 Aug 1;102(2):161-8.PMID: 11477610 [PubMed - indexed for MEDLINE]Related articles

    20.

    dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

    Melchior L, Schwartz M, Duno M.

    Ann Hum Genet. 2005 Mar;69(Pt 2):222-6.PMID: 15720303 [PubMed - indexed for MEDLINE]Related articles

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