250 related articles for article (PubMed ID: 30719864)
1. 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]
2. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
Matsuo T; Ihara K; Ochiai M; Kinjo T; Yoshikawa Y; Kojima-Ishii K; Noda M; Mizumoto H; Misaki M; Minagawa K; Tominaga K; Hara T
Am J Med Genet A; 2013 Jan; 161A(1):34-7. PubMed ID: 23239432
[TBL] [Abstract][Full Text] [Related]
3. 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;
Am J Hum Genet; 2005 Aug; 77(2):193-204. PubMed ID: 15942875
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.
Nakamura Y; Takagi M; Yoshihashi H; Miura M; Narumi S; Hasegawa T; Miyake Y; Hasegawa Y
Am J Med Genet A; 2015 May; 167A(5):1171-4. PubMed ID: 25712828
[TBL] [Abstract][Full Text] [Related]
8. Hyperinsulinemia in Sotos Syndrome with a
Lundberg E; Burstedt M; Golovleva I
J Clin Res Pediatr Endocrinol; 2024 Feb; ():. PubMed ID: 38344969
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.
Machida M; Katoh H; Machida M; Miyake A; Taira K; Ohashi H
Spine (Phila Pa 1976); 2021 Jul; 46(13):E726-E733. PubMed ID: 33332788
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.
Oishi S; Zalucki O; Vega MS; Harkins D; Harvey TJ; Kasherman M; Davila RA; Hale L; White M; Piltz S; Thomas P; Burne THJ; Harris L; Piper M
Genes Brain Behav; 2020 Apr; 19(4):e12637. PubMed ID: 31909872
[TBL] [Abstract][Full Text] [Related]
13. Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA; Dos Santos JHV; Honjo RS; Yamamoto GL; Bertola DR; Hurst AC; Chorich LP; Layman LC; Kim CA; Kim HG
Am J Med Genet A; 2021 Dec; 185(12):3916-3923. PubMed ID: 34405946
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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. PubMed ID: 16247291
[TBL] [Abstract][Full Text] [Related]
16. Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying
Ferilli M; Ciolfi A; Pedace L; Niceta M; Radio FC; Pizzi S; Miele E; Cappelletti C; Mancini C; Galluccio T; Andreani M; Iascone M; Chiriatti L; Novelli A; Micalizzi A; Matraxia M; Menale L; Faletra F; Prontera P; Pilotta A; Bedeschi MF; Capolino R; Baban A; Seri M; Mammì C; Zampino G; Digilio MC; Dallapiccola B; Priolo M; Tartaglia M
Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36421837
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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; 134(3):247-53. PubMed ID: 15742365
[TBL] [Abstract][Full Text] [Related]
19. Sotos syndrome in two children from India.
Panigrahi I; Chaudhry C
Am J Med Genet A; 2020 Sep; 182(9):2181-2183. PubMed ID: 32677741
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]