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Results: 1 to 20 of 112

Related Citations for PubMed (Select 22169837)

1.

Sotos syndrome.

Juneja A, Sultan A.

J Indian Soc Pedod Prev Dent. 2011 Dec;29(6 Suppl 2):S48-51. doi: 10.4103/0970-4388.90741.

2.

Sotos syndrome: a case report.

Gomes-Silva JM, Ruviére DB, Segatto RA, de Queiroz AM, de Freitas AC.

Spec Care Dentist. 2006 Nov-Dec;26(6):257-62.

PMID:
17472042
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.

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. doi: 10.1016/j.ejmg.2009.07.001. Epub 2009 Jul 9.

PMID:
19596467
5.

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.

Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY.

Am J Med Genet A. 2011 Jun;155A(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12.

PMID:
21567906
6.

Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.

Su PH, Yu JS, Chen SJ, Chen JY, Tsao TF.

Clin Dysmorphol. 2011 Jan;20(1):42-6. doi: 10.1097/MCD.0b013e32833ff281.

PMID:
21084978
7.

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.

Kılıç E, Utine GE, Boduroğlu K.

Turk J Pediatr. 2013 Mar-Apr;55(2):207-9.

8.

[Sotos syndrome: follow-up of a case with precocious puberty].

Bertelloni S, Baroncelli GI, Tomasi O, Sorrentino MC, Costa S, Saggese G.

Pediatr Med Chir. 1995 Jul-Aug;17(4):353-7. Italian.

PMID:
7491333
9.

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.

10.

[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. doi: 10.1016/j.anpedi.2011.02.018. Epub 2011 Apr 8. Spanish.

11.

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kučinskienė ZA, Hettinger JA, Sismani C, Patsalis PC, Kučinskas V.

Am J Med Genet A. 2011 Oct;155A(10):2501-7.

PMID:
21998857
12.

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.

PMID:
16900922
13.

A typical Hallermann-Streiff syndrome in a 3 year old child.

Vadiakas G, Oulis C, Tsianos E, Mavridou S.

J Clin Pediatr Dent. 1995 Fall;20(1):63-8. Review.

PMID:
8634201
14.
15.

Perinatal imaging findings of inherited Sotos syndrome.

Chen CP, Lin SP, Chang TY, Chiu NC, Shih SL, Lin CJ, Wang W, Hsu HC.

Prenat Diagn. 2002 Oct;22(10):887-92.

PMID:
12378571
16.

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

Nicita F, Ruggieri M, Polizzi A, Mauceri L, Salpietro V, Briuglia S, Papetti L, Ursitti F, Grosso S, Tarani L, Segni M, Savasta S, Parisi P, Verrotti A, Spalice A.

Epilepsia. 2012 Jun;53(6):e102-5. doi: 10.1111/j.1528-1167.2012.03418.x. Epub 2012 Feb 21.

PMID:
22352460
17.

Oral findings in a child with Prader-Labhart-Willi syndrome.

Salako NO, Ghafouri HM.

Quintessence Int. 1995 May;26(5):339-41.

PMID:
7568756
18.

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

Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D.

Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20.

PMID:
21597970
19.

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
20.

Sturge-Weber syndrome: a case report.

Mukhopadhyay S.

J Indian Soc Pedod Prev Dent. 2008 Jan;26 Suppl 1:S29-31.

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