274 related articles for article (PubMed ID: 33191647)
1. 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]
2. NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J; Meyer R; Fekete G; Spranger S; Matulevičienė A; Kučinskas V; Bach A; Luczay A; Brüchle NO; Eggermann K; Zerres K; Elbracht M; Eggermann T
Clin Genet; 2017 Jan; 91(1):73-78. PubMed ID: 27172843
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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. PubMed ID: 21597970
[TBL] [Abstract][Full Text] [Related]
5. A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.
Mio C; Allegri L; Passon N; Bregant E; Demori E; Franzoni A; Driul D; Riccio A; Damante G; Baldan F
Eur J Hum Genet; 2021 Mar; 29(3):447-454. PubMed ID: 33177595
[TBL] [Abstract][Full Text] [Related]
6. Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
Fokstuen S; Kotzot D
Am J Med Genet A; 2014 Jun; 164A(6):1595-605. PubMed ID: 24664587
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Cytrynbaum C; Chong K; Hannig V; Choufani S; Shuman C; Steele L; Morgan T; Scherer SW; Stavropoulos DJ; Basran RK; Weksberg R
Am J Med Genet A; 2016 Oct; 170(10):2731-9. PubMed ID: 27374371
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
[TBL] [Abstract][Full Text] [Related]
13. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
Inoue T; Nakamura A; Fuke T; Yamazawa K; Sano S; Matsubara K; Mizuno S; Matsukura Y; Harashima C; Hasegawa T; Nakajima H; Tsumura K; Kizaki Z; Oka A; Ogata T; Fukami M; Kagami M
Clin Epigenetics; 2017; 9():52. PubMed ID: 28515796
[TBL] [Abstract][Full Text] [Related]
14. The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
Yue X; Liu B; Han T; Guo D; Ding R; Wang G
BMC Pediatr; 2024 Mar; 24(1):166. PubMed ID: 38459438
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
Watanabe H; Higashimoto K; Miyake N; Morita S; Horii T; Kimura M; Suzuki T; Maeda T; Hidaka H; Aoki S; Yatsuki H; Okamoto N; Uemura T; Hatada I; Matsumoto N; Soejima H
FASEB J; 2020 Jan; 34(1):960-973. PubMed ID: 31914674
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
Cocchi G; Marsico C; Cosentino A; Spadoni C; Rocca A; De Crescenzo A; Riccio A
Am J Med Genet A; 2013 Oct; 161A(10):2652-5. PubMed ID: 24038823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
