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Results: 1 to 20 of 267

Similar articles for PubMed (Select 19291764)

1.

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M.

Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694. No abstract available.

PMID:
19291764
2.

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.

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.

4.

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.

5.

Identification of eight novel NSD1 mutations in Sotos syndrome.

Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N.

J Med Genet. 2003 Nov;40(11):e126. No abstract available.

6.

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.

7.

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
8.

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

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

J Med Genet. 2003 Apr;40(4):285-9. No abstract available.

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.

10.

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
11.

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
12.

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
13.

Three novel mutations in greek sotos patients with rare clinical manifestations.

Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E, Willems P, Fryssira H.

Horm Res. 2009 Jan;71(1):45-51. doi: 10.1159/000173741. Epub 2008 Nov 27.

PMID:
19039236
14.

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
15.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F.

Am J Med Genet A. 2005 Apr 30;134(3):247-53.

PMID:
15742365
16.

Clinical features of NSD1-positive Sotos syndrome.

Tatton-Brown K, Rahman N.

Clin Dysmorphol. 2004 Oct;13(4):199-204.

PMID:
15365454
17.

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.

18.

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

Fryssira H, Drossatou P, Sklavou R, Barambouti F, Manolaki N.

Genet Couns. 2010;21(1):53-9.

PMID:
20420030
19.

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
20.

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE.

Am J Med Genet A. 2011 Sep;155A(9):2105-11. doi: 10.1002/ajmg.a.34156. Epub 2011 Aug 10. Review.

PMID:
21834047
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