306 related articles for article (PubMed ID: 22177091)
21. Mutations in SETD2 cause a novel overgrowth condition.
Luscan A; Laurendeau I; Malan V; Francannet C; Odent S; Giuliano F; Lacombe D; Touraine R; Vidaud M; Pasmant E; Cormier-Daire V
J Med Genet; 2014 Aug; 51(8):512-7. PubMed ID: 24852293
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM; Kasperaviciute D; Lu JT; Burrage LC; Kim C; Hori M; Powell BR; Stewart F; Félix TM; van den Ende J; Wisniewska M; Kayserili H; Rump P; Nampoothiri S; Aftimos S; Mey A; Nair LD; Begleiter ML; De Bie I; Meenakshi G; Murray ML; Repetto GM; Golabi M; Blair E; Male A; Giuliano F; Kariminejad A; Newman WG; Bhaskar SS; Dickerson JE; Kerr B; Banka S; Giltay JC; Wieczorek D; Tostevin A; Wiszniewska J; Cheung SW; Hennekam RC; Gibbs RA; Lee BH; Sisodiya SM
Lancet Neurol; 2014 Jan; 13(1):44-58. PubMed ID: 24291220
[TBL] [Abstract][Full Text] [Related]
24. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
Gripp KW; Baker L; Telegrafi A; Monaghan KG
Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
[TBL] [Abstract][Full Text] [Related]
25. A somatic EZH2 mutation in childhood acute myeloid leukemia.
Ernst T; Pflug A; Rinke J; Ernst J; Bierbach U; Beck JF; Hochhaus A; Gruhn B
Leukemia; 2012 Jul; 26(7):1701-3. PubMed ID: 22266912
[No Abstract] [Full Text] [Related]
26. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Pranckėnienė L; Siavrienė E; Gueneau L; Preikšaitienė E; Mikštienė V; Reymond A; Kučinskas V
Mol Genet Genomic Med; 2019 Dec; 7(12):e1006. PubMed ID: 31628733
[TBL] [Abstract][Full Text] [Related]
27. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A; Al-Ali R; Choucair N; Lek M; Wang E; Ladjimi M; Rose CM; Hobeika R; Macary Y; Temanni R; Jithesh PV; Chouchane A; Sastry KS; Thomas R; Tomei S; Liu W; Marincola FM; MacArthur D; Chouchane L
BMC Med Genet; 2016 Jun; 17(1):42. PubMed ID: 27282200
[TBL] [Abstract][Full Text] [Related]
28. Overgrowth syndromes.
Neylon OM; Werther GA; Sabin MA
Curr Opin Pediatr; 2012 Aug; 24(4):505-11. PubMed ID: 22705997
[TBL] [Abstract][Full Text] [Related]
29. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M; Al-Gazali L; Cordeiro I; Dallapiccola B; Garavelli L; Tuysuz B; Salehi F; Haagmans MA; Mook OR; Majoie CB; Mannens MM; Hennekam RC
Hum Genet; 2014 Sep; 133(9):1161-7. PubMed ID: 24913602
[TBL] [Abstract][Full Text] [Related]
30. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N; Tsurusaki Y; Matsumoto N
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545
[TBL] [Abstract][Full Text] [Related]
31. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW; Aten E; Sun Y; Almomani R; Gilissen C; Nielsen M; Kant SG; Snoeck IN; Peeters EA; Hilhorst-Hofstee Y; Wessels MW; den Hollander NS; Ruivenkamp CA; van Ommen GJ; Breuning MH; den Dunnen JT; van Haeringen A; Kriek M
Nat Genet; 2012 Mar; 44(4):379-80. PubMed ID: 22426309
[TBL] [Abstract][Full Text] [Related]
32. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y; Okamoto N; Ohashi H; Kosho T; Imai Y; Hibi-Ko Y; Kaname T; Naritomi K; Kawame H; Wakui K; Fukushima Y; Homma T; Kato M; Hiraki Y; Yamagata T; Yano S; Mizuno S; Sakazume S; Ishii T; Nagai T; Shiina M; Ogata K; Ohta T; Niikawa N; Miyatake S; Okada I; Mizuguchi T; Doi H; Saitsu H; Miyake N; Matsumoto N
Nat Genet; 2012 Mar; 44(4):376-8. PubMed ID: 22426308
[TBL] [Abstract][Full Text] [Related]
33. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC; Lüdecke HJ; Alanay Y; Albrecht B; Barthelmie A; Boduroglu K; Braunholz D; Caliebe A; Chrzanowska KH; Czeschik JC; Endele S; Graf E; Guillén-Navarro E; Kiper PÖ; López-González V; Parenti I; Pozojevic J; Utine GE; Wieland T; Kaiser FJ; Wollnik B; Strom TM; Wieczorek D
Hum Genet; 2015 Jun; 134(6):553-68. PubMed ID: 25724810
[TBL] [Abstract][Full Text] [Related]
34. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM; Hennekam RC;
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):327-32. PubMed ID: 25169651
[TBL] [Abstract][Full Text] [Related]
35. A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.
Zhang T; Wu Q; Zhu L; Wu D; Yang R; Qi M; Huang X
Eur J Med Genet; 2020 Apr; 63(4):103851. PubMed ID: 31953237
[TBL] [Abstract][Full Text] [Related]
36. Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y; Okamoto N; Ohashi H; Mizuno S; Matsumoto N; Makita Y; Fukuda M; Isidor B; Perrier J; Aggarwal S; Dalal AB; Al-Kindy A; Liebelt J; Mowat D; Nakashima M; Saitsu H; Miyake N; Matsumoto N
Clin Genet; 2014 Jun; 85(6):548-54. PubMed ID: 23815551
[TBL] [Abstract][Full Text] [Related]
37. Somatic mutations altering Tyr641 of EZH2 are rare in primary central nervous system lymphoma.
Pellissery S; Richter J; Haake A; Montesinos-Rongen M; Deckert M; Siebert R
Leuk Lymphoma; 2010 Nov; 51(11):2135-6. PubMed ID: 20858097
[No Abstract] [Full Text] [Related]
38. EZH2 mutations and their association with PICALM-MLLT10 positive acute leukaemia.
Grossmann V; Bacher U; Kohlmann A; Artusi V; Klein HU; Dugas M; Schnittger S; Alpermann T; Kern W; Haferlach T; Haferlach C
Br J Haematol; 2012 May; 157(3):387-90. PubMed ID: 22235851
[No Abstract] [Full Text] [Related]
39. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
Errichiello E; Mustafa N; Vetro A; Notarangelo LD; de Jonge H; Rinaldi B; Vergani D; Giglio SR; Morbini P; Zuffardi O
J Pathol; 2017 Sep; 243(1):9-15. PubMed ID: 28608987
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
