134 related articles for article (PubMed ID: 36458506)
1. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
van der Lugt NM; Weerts MJA; Veenma DCM; Lincke CR; Gischler SJ; Alders M; van Ierland Y
Am J Med Genet A; 2023 Mar; 191(3):835-841. PubMed ID: 36458506
[TBL] [Abstract][Full Text] [Related]
2. A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.
Reis FG; Pinto IP; Minasi LB; Melo AV; Cunha DM; Ribeiro CL; da Silva CC; Silva DM; da Cruz AD
Genet Mol Res; 2017 Jan; 16(1):. PubMed ID: 28128410
[TBL] [Abstract][Full Text] [Related]
3. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Dikow N; Maas B; Gaspar H; Kreiss-Nachtsheim M; Engels H; Kuechler A; Garbes L; Netzer C; Neuhann TM; Koehler U; Casteels K; Devriendt K; Janssen JW; Jauch A; Hinderhofer K; Moog U
Am J Med Genet A; 2013 Sep; 161A(9):2158-66. PubMed ID: 23913520
[TBL] [Abstract][Full Text] [Related]
4. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
Chen CP; Lin SP; Lin CC; Chen YJ; Chern SR; Li YC; Hsieh LJ; Lee CC; Pan CW; Wang W
Am J Med Genet A; 2006 Jul; 140(14):1594-600. PubMed ID: 16770806
[TBL] [Abstract][Full Text] [Related]
5. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Novara F; Stanzial F; Rossi E; Benedicenti F; Inzana F; Di Gregorio E; Brusco A; Graakjaer J; Fagerberg C; Belligni E; Silengo M; Zuffardi O; Ciccone R
Am J Med Genet A; 2014 Aug; 164A(8):2084-90. PubMed ID: 24819041
[TBL] [Abstract][Full Text] [Related]
6. Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
Rosenfeld JA; Kim KH; Angle B; Troxell R; Gorski JL; Westemeyer M; Frydman M; Senturias Y; Earl D; Torchia B; Schultz RA; Ellison JW; Tsuchiya K; Zimmerman S; Smolarek TA; Ballif BC; Shaffer LG
Mol Syndromol; 2013 Jan; 3(6):247-54. PubMed ID: 23599694
[TBL] [Abstract][Full Text] [Related]
7. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
Jamsheer A; Sowińska A; Simon D; Jamsheer-Bratkowska M; Trzeciak T; Latos-Bieleńska A
BMC Med Genet; 2013 Jan; 14():13. PubMed ID: 23342975
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 21567906
[TBL] [Abstract][Full Text] [Related]
9. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Kılıç E; Utine GE; Boduroğlu K
Turk J Pediatr; 2013; 55(2):207-9. PubMed ID: 24192683
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21998857
[TBL] [Abstract][Full Text] [Related]
11. 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Quintero-Rivera F; Eno CC; Sutanto C; Jones KL; Nowaczyk MJM; Wong D; Earl D; Mirzaa G; Beck A; Martinez-Agosto JA
Hum Genet; 2021 Apr; 140(4):681-690. PubMed ID: 33389145
[TBL] [Abstract][Full Text] [Related]
12. Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
Sohn YB; Lee CG; Ko JM; Yang JA; Yun JN; Jung EJ; Jin HS; Park SJ; Jeong SY
J Hum Genet; 2013 Feb; 58(2):73-7. PubMed ID: 23190751
[TBL] [Abstract][Full Text] [Related]
13. A boy with Silver-Russell syndrome and Sotos syndrome.
Schwaibold EMC; Beygo J; Obeid K; Jauch A; Hinderhofer K; Moog U
Am J Med Genet A; 2021 Feb; 185(2):549-554. PubMed ID: 33191647
[TBL] [Abstract][Full Text] [Related]
14. First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
Park SH; Lee JE; Sohn YB; Ko JM
Ann Clin Lab Sci; 2014; 44(2):228-31. PubMed ID: 24795065
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP; Lin CJ; Chern SR; Liu YP; Kuo YL; Chen YN; Wu PS; Town DD; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2014 Dec; 53(4):583-7. PubMed ID: 25510705
[TBL] [Abstract][Full Text] [Related]
16. Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.
Žilina O; Reimand T; Tammur P; Tillmann V; Kurg A; Õunap K
Eur J Med Genet; 2013 Apr; 56(4):202-6. PubMed ID: 23369838
[TBL] [Abstract][Full Text] [Related]
17. Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.
Wejaphikul K; Cho SY; Huh R; Kwun Y; Lee J; Ki CS; Jin DK
Ann Clin Lab Sci; 2015; 45(2):215-8. PubMed ID: 25887879
[TBL] [Abstract][Full Text] [Related]
18. Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Siracusano M; Riccioni A; Frattale I; Arturi L; Dante C; Galasso C; Gialloreti LE; Conteduca G; Testa B; Malacarne M; Coviello D; Mazzone L
Am J Med Genet A; 2023 Jul; 191(7):1836-1848. PubMed ID: 37066965
[TBL] [Abstract][Full Text] [Related]
19. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K; Gonzalez-Gandolfi C; Ackermann AM; Aljeaid D; Bedoukian E; Bird LM; De Leon DD; Diaz J; Hopkin RJ; Kadakia SP; Keena B; Klein KO; Krantz I; Leon E; Lord K; McDougall C; Medne L; Skraban CM; Stanley CA; Tarpinian J; Zackai E; Deardorff MA; Kalish JM
Am J Med Genet A; 2019 Apr; 179(4):542-551. PubMed ID: 30719864
[TBL] [Abstract][Full Text] [Related]
20. Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.
Takkar A; Arora V; Saxena R; Kumar P; Verma IC
Indian J Pediatr; 2022 Nov; 89(11):1137-1139. PubMed ID: 35925544
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
