498 related articles for article (PubMed ID: 19380072)
1. 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. PubMed ID: 19380072
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19039236
[TBL] [Abstract][Full Text] [Related]
3. 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; 118(18):1499-506. PubMed ID: 16232326
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 14571271
[TBL] [Abstract][Full Text] [Related]
5. 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; 52(5):333-6. PubMed ID: 19596467
[TBL] [Abstract][Full Text] [Related]
6. NSD1 mutations in Sotos syndrome.
Faravelli F
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):24-31. PubMed ID: 16010675
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15452385
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17565729
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 20420030
[TBL] [Abstract][Full Text] [Related]
10. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Garavelli L; Leask K; Zanacca C; Pedori S; Albertini G; Della Giustina E; Croci GF; Magnani C; Banchini G; Clayton-Smith J; Bocian M; Firth H; Gold JA; Hurst J
Genet Couns; 2005; 16(2):117-28. PubMed ID: 16080291
[TBL] [Abstract][Full Text] [Related]
11. Genitourinary anomalies of pediatric FG syndrome.
Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM
J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12807965
[TBL] [Abstract][Full Text] [Related]
13. Kabuki syndrome and trisomy 10p.
Utine GE; Alanay Y; Atkaş D; Boduroğlu K; Alikaşifoğlu M; Tunçbilek E
Genet Couns; 2008; 19(3):291-300. PubMed ID: 18990985
[TBL] [Abstract][Full Text] [Related]
14. Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.
Srour M; Mazer B; Shevell MI
J Child Neurol; 2006 Apr; 21(4):287-90. PubMed ID: 16900922
[TBL] [Abstract][Full Text] [Related]
15. [Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].
Cortès-Saladelafont E; Arias-Sáez K; Esteban-Oliva D; Coroleu-Lletget W; Martín-Jiménez P; Pintos-Morell G
An Pediatr (Barc); 2011 Aug; 75(2):129-33. PubMed ID: 21482210
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 17561922
[TBL] [Abstract][Full Text] [Related]
17. Low factor XII level in an individual with Sotos syndrome.
Shen JJ; Kurotaki N; Patel A; Lupski JR; Brown CW
Pediatr Blood Cancer; 2005 Feb; 44(2):187-9. PubMed ID: 15390361
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 15720303
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 12464997
[TBL] [Abstract][Full Text] [Related]
20. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.
de Boer L; Röder I; Wit JM
Dev Med Child Neurol; 2006 Jul; 48(7):582-8. PubMed ID: 16780628
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]