173 related articles for article (PubMed ID: 29266745)
21. Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.
Rentas S; Pillai V; Wertheim GB; Akgumus GT; Nichols KE; Deardorff MA; Conlin LK; Li MM; Olson TS; Luo M
Cancer Genet; 2020 Jul; 245():42-48. PubMed ID: 32619790
[TBL] [Abstract][Full Text] [Related]
22. A familial
Rahim MQ; Rahrig A; Overholt K; Conboy E; Czader M; Saraf AJ
Cold Spring Harb Mol Case Stud; 2023 Apr; 9(2):. PubMed ID: 37160314
[TBL] [Abstract][Full Text] [Related]
23. A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
Mehawej C; Ibrahim M; Khalife L; Chouery E; El Hachem S; Sayad A; El Traboulsi A; Inati A; Megarbane A
Clin Genet; 2024 Feb; 105(2):202-208. PubMed ID: 37830462
[TBL] [Abstract][Full Text] [Related]
24. MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report.
Janjua D; Shankar S; AlMaazmi M; Jadhav DV
Am J Case Rep; 2022 Aug; 23():e937057. PubMed ID: 35994417
[TBL] [Abstract][Full Text] [Related]
25. A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
Kim YM; Seo GH; Kim GH; Ko JM; Choi JH; Yoo HW
BMC Med Genet; 2018 Mar; 19(1):35. PubMed ID: 29506479
[TBL] [Abstract][Full Text] [Related]
26. Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
Wong JC; Bryant V; Lamprecht T; Ma J; Walsh M; Schwartz J; Del Pilar Alzamora M; Mullighan CG; Loh ML; Ribeiro R; Downing JR; Carroll WL; Davis J; Gold S; Rogers PC; Israels S; Yanofsky R; Shannon K; Klco JM
JCI Insight; 2018 Jul; 3(14):. PubMed ID: 30046003
[TBL] [Abstract][Full Text] [Related]
27. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR; Wang S; Ma J; Lamprecht T; Walsh M; Song G; Raimondi SC; Wu G; Walsh MF; McGee RB; Kesserwan C; Nichols KE; Cauff BE; Ribeiro RC; Wlodarski M; Klco JM
Leukemia; 2017 Aug; 31(8):1827-1830. PubMed ID: 28487541
[No Abstract] [Full Text] [Related]
28. In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation.
Hockings C; Gohil S; Dowse R; Hoade Y; Mansour MR; Gale RE; Linch DC; Rao A; Payne EM
Br J Haematol; 2020 Feb; 188(4):e53-e57. PubMed ID: 31900929
[No Abstract] [Full Text] [Related]
29. MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the
Onuma S; Wada T; Araki R; Wada K; Tanase-Nakao K; Narumi S; Fukui M; Shoji Y; Etani Y; Ida S; Kawai M
Hum Genome Var; 2020; 7():4. PubMed ID: 32194975
[TBL] [Abstract][Full Text] [Related]
30. Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually
Roucher-Boulez F; Mallet D; Chatron N; Dijoud F; Gorduza DB; Bretones P; Morel Y
Front Endocrinol (Lausanne); 2019; 10():625. PubMed ID: 31572304
[No Abstract] [Full Text] [Related]
31. MIRAGE Syndrome Caused by a
Chin X; Sreedharan AV; Tan EC; Wei H; Kuan JL; Ho CWW; Lam JCM; Ting TW; Vasanwala RF
Front Endocrinol (Lausanne); 2021; 12():742495. PubMed ID: 34659124
[TBL] [Abstract][Full Text] [Related]
32. The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.
Kawashima-Sonoyama Y; Okuno K; Dohmoto T; Tanase-Nakao K; Narumi S; Namba N
Hum Genome Var; 2021 Jul; 8(1):27. PubMed ID: 34253717
[TBL] [Abstract][Full Text] [Related]
33. A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.
Saito K; Nakagawa R; Narumi S; Ohashi H; Ishiguro A; Kabe K
Neonatology; 2023; 120(3):390-394. PubMed ID: 37044079
[TBL] [Abstract][Full Text] [Related]
34. Germline loss-of-function
Nagata Y; Narumi S; Guan Y; Przychodzen BP; Hirsch CM; Makishima H; Shima H; Aly M; Pastor V; Kuzmanovic T; Radivoyevitch T; Adema V; Awada H; Yoshida K; Li S; Sole F; Hanna R; Jha BK; LaFramboise T; Ogawa S; Sekeres MA; Wlodarski MW; Cammenga J; Maciejewski JP
Blood; 2018 Nov; 132(21):2309-2313. PubMed ID: 30322869
[No Abstract] [Full Text] [Related]
35. Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.
Panaitescu AM; Huluță I; Gorecki GP; Cima LN; Voiculescu VM; Nedelea FM; Gică N
Children (Basel); 2024 Mar; 11(3):. PubMed ID: 38539345
[TBL] [Abstract][Full Text] [Related]
36. Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R; Kanderova V; Rackova M; Svaton M; Brdicka T; Riha P; Keslova P; Mejstrikova E; Zaliova M; Freiberger T; Grombirikova H; Zemanova Z; Vlkova M; Fencl F; Copova I; Bronsky J; Jabandziev P; Sedlacek P; Soukalova J; Zapletal O; Stary J; Trka J; Kalina T; Skvarova Kramarzova K; Hlavackova E; Litzman J; Fronkova E
Front Immunol; 2019; 10():2194. PubMed ID: 31620126
[TBL] [Abstract][Full Text] [Related]
37. Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic
Tanase-Nakao K; Kawai M; Wada K; Kagami M; Narumi S
Clin Pediatr Endocrinol; 2021; 30(4):163-169. PubMed ID: 34629738
[TBL] [Abstract][Full Text] [Related]
38. Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
Buonocore F; Balys M; Anderson G; Achermann JC
F1000Res; 2023; 12():155. PubMed ID: 38434662
[TBL] [Abstract][Full Text] [Related]
39. Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
Catts DS; Mroske C; Clark RO; Hipp SJ; Berg JM; Hunter JM; Whiteway SL
J Pediatr Hematol Oncol; 2021 May; 43(4):e517-e520. PubMed ID: 32815881
[TBL] [Abstract][Full Text] [Related]
40. [Association between SAMD9/SAMD9L and hematological malignancies].
Narumi S; Hasegawa T
Rinsho Ketsueki; 2018; 59(11):2475-2480. PubMed ID: 30531146
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
