229 related articles for article (PubMed ID: 26927468)
1. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A; Kucharczyk M; Falana K; Jurkiewicz D; Mlynek M; Wicher D; Rydzanicz M; Kugaudo M; Cieslikowska A; Ciara E; Ploski R; Krajewska-Walasek M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Mar; 160(1):161-7. PubMed ID: 26927468
[TBL] [Abstract][Full Text] [Related]
2. Further delineation of Malan syndrome.
Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
[TBL] [Abstract][Full Text] [Related]
3. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F; Cavaliere ML; Wischmeijer A; Mammì C; Neri G; Pisanti MA; Rodella G; Laganà C; Priolo M
Eur J Med Genet; 2015 Sep; 58(9):488-91. PubMed ID: 26193383
[TBL] [Abstract][Full Text] [Related]
4. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M; Morrogh D; Rosser EM; Jaffer F; Vreeburg M; Bok LA; Segboer T; van Belzen M; Quinlivan RM; Kumar A; Hurst JA; Scott RH
Eur J Hum Genet; 2015 May; 23(5):610-5. PubMed ID: 25118028
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
[TBL] [Abstract][Full Text] [Related]
6. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y; Saitsu H; Touyama M; Makita Y; Miyamoto A; Hamada K; Kurotaki N; Tomita H; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ogata K; Naritomi K; Matsumoto N
J Hum Genet; 2012 Mar; 57(3):207-11. PubMed ID: 22301465
[TBL] [Abstract][Full Text] [Related]
7. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
Bellucco FT; de Mello CB; Meloni VA; Melaragno MI
Mol Genet Genomic Med; 2019 Dec; 7(12):e997. PubMed ID: 31574590
[TBL] [Abstract][Full Text] [Related]
8. Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.
Kuroda Y; Mizuno Y; Mimaki M; Oka A; Sato Y; Ogawa S; Kurosawa K
Clin Dysmorphol; 2017 Oct; 26(4):224-227. PubMed ID: 28557812
[No Abstract] [Full Text] [Related]
9. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.
Shimojima K; Okamoto N; Tamasaki A; Sangu N; Shimada S; Yamamoto T
Am J Med Genet A; 2015 Apr; 167A(4):724-30. PubMed ID: 25736188
[TBL] [Abstract][Full Text] [Related]
10. Sotos syndrome 1 and 2.
Sotos JF
Pediatr Endocrinol Rev; 2014 Sep; 12(1):2-16. PubMed ID: 25345081
[TBL] [Abstract][Full Text] [Related]
11. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A; Houcinat N; Vuillaume ML; Fergelot P; Boucher C; Toutain J; Caignec CL; Vincent M; Nizon M; Andrieux J; Vanlerberghe C; Delobel B; Duban B; Mansour S; Baple E; McKeown C; Poke G; Robertshaw K; Fifield E; Fabretto A; Pecile V; Gasparini P; Carrozzi M; Lacombe D; Arveiler B; Rooryck C; Moutton S
Eur J Hum Genet; 2018 Jan; 26(1):85-93. PubMed ID: 29184170
[TBL] [Abstract][Full Text] [Related]
12. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.
Priolo M; Grosso E; Mammì C; Labate C; Naretto VG; Vacalebre C; Caridi P; Laganà C
Gene; 2012 Dec; 511(1):103-5. PubMed ID: 22982744
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D; Neubauer D; Cormier-Daire V; Delrue MA; Dieux-Coeslier A; Hasegawa T; Holmberg EE; Koenig R; Krueger G; Schanze I; Seemanova E; Shaw AC; Vogt J; Volleth M; Reis A; Meinecke P; Hennekam RC; Zenker M
Hum Mutat; 2014 Sep; 35(9):1092-100. PubMed ID: 24924640
[TBL] [Abstract][Full Text] [Related]
15. Malan syndrome: Extension of genotype and phenotype spectrum.
Rai A; Narayanan DL; Phadke SR
Am J Med Genet A; 2018 Dec; 176(12):2896-2900. PubMed ID: 30548146
[TBL] [Abstract][Full Text] [Related]
16. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V; Rajan D; Thomas S; Shaw AC; Louis Dit Picard H; Layet V; Till M; van Haeringen A; Mortier G; Nampoothiri S; Puseljić S; Legeai-Mallet L; Carter NP; Vekemans M; Munnich A; Hennekam RC; Colleaux L; Cormier-Daire V
Am J Hum Genet; 2010 Aug; 87(2):189-98. PubMed ID: 20673863
[TBL] [Abstract][Full Text] [Related]
17. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
Lehman AM; du Souich C; Chai D; Eydoux P; Huang JL; Fok AK; Avila L; Swingland J; Delaney AD; McGillivray B; Goldowitz D; Argiropoulos B; Kobor MS; Boerkoel CF
Clin Genet; 2012 Jan; 81(1):56-63. PubMed ID: 21204797
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Sihombing NRB; Winarni TI; van Bokhoven H; van der Burgt I; de Leeuw N; Faradz SMH
Am J Med Genet A; 2020 Nov; 182(11):2731-2736. PubMed ID: 32945093
[TBL] [Abstract][Full Text] [Related]
20. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.
Dong HY; Zeng H; Hu YQ; Xie L; Wang J; Wang XY; Yang YF; Tan ZP
Mol Cytogenet; 2016; 9():71. PubMed ID: 27688808
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
