160 related articles for article (PubMed ID: 37230770)
1. Perinatal-lethal nonimmune fetal hydrops attributed to
Dash CA; Madden JA; Cummings C; Rose M; Wilson SD; Mori M; Agrawal PB; Chaudhari BP; Wojcik MH
Cold Spring Harb Mol Case Stud; 2023 Jun; 9(3):. PubMed ID: 37230770
[TBL] [Abstract][Full Text] [Related]
2. Fetal hydrops caused by a novel pathogenic MECOM variant.
Wall E; Forsyth J; Kinning E; Marton T
Prenat Diagn; 2023 Jun; 43(6):717-720. PubMed ID: 37160698
[TBL] [Abstract][Full Text] [Related]
3. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.
Germeshausen M; Ancliff P; Estrada J; Metzler M; Ponstingl E; Rütschle H; Schwabe D; Scott RH; Unal S; Wawer A; Zeller B; Ballmaier M
Blood Adv; 2018 Mar; 2(6):586-596. PubMed ID: 29540340
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Ammeti D; Marzollo A; Gabelli M; Zanchetta ME; Tretti-Parenzan C; Bottega R; Capaci V; Biffi A; Savoia A; Bresolin S; Faleschini M
Br J Haematol; 2023 Dec; 203(5):852-859. PubMed ID: 37610030
[TBL] [Abstract][Full Text] [Related]
5. Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Lozano Chinga MM; Bertuch AA; Afify Z; Dollerschell K; Hsu JI; John TD; Rao ES; Rowe RG; Sankaran VG; Shimamura A; Williams DA; Nakano TA
Am J Med Genet A; 2023 Jul; 191(7):1826-1835. PubMed ID: 37067177
[TBL] [Abstract][Full Text] [Related]
6. Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2.
Kjeldsen E; Veigaard C; Aggerholm A; Hasle H
Gene; 2018 May; 656():86-94. PubMed ID: 29496554
[TBL] [Abstract][Full Text] [Related]
7. A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.
Huang D; Jiang M; Zhu Y; Li D; Lu X; Gao J
BMC Pediatr; 2024 Jan; 24(1):62. PubMed ID: 38245683
[TBL] [Abstract][Full Text] [Related]
8. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Niihori T; Ouchi-Uchiyama M; Sasahara Y; Kaneko T; Hashii Y; Irie M; Sato A; Saito-Nanjo Y; Funayama R; Nagashima T; Inoue S; Nakayama K; Ozono K; Kure S; Matsubara Y; Imaizumi M; Aoki Y
Am J Hum Genet; 2015 Dec; 97(6):848-54. PubMed ID: 26581901
[TBL] [Abstract][Full Text] [Related]
9. Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.
Nagai K; Niihori T; Muto A; Hayashi Y; Abe T; Igarashi K; Aoki Y
Blood Adv; 2023 Sep; 7(18):5409-5420. PubMed ID: 37099686
[TBL] [Abstract][Full Text] [Related]
10. Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.
Avram CM; Caughey AB; Norton ME; Sparks TN
Am J Obstet Gynecol MFM; 2022 Nov; 4(6):100724. PubMed ID: 35995366
[TBL] [Abstract][Full Text] [Related]
11. MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
Voit RA; Sankaran VG
J Clin Immunol; 2023 Aug; 43(6):1052-1066. PubMed ID: 37407873
[TBL] [Abstract][Full Text] [Related]
12. A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.
Deliloğlu B; Tüfekçi Ö; Tüzün F; Aykut A; Ceylan Eİ; Durmaz A; Yılmaz Ş; Duman N; Özkan H; Ören H
Turk J Pediatr; 2022; 64(4):736-740. PubMed ID: 36082647
[TBL] [Abstract][Full Text] [Related]
13. Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
Norton ME; Ziffle JV; Lianoglou BR; Hodoglugil U; Devine WP; Sparks TN
Am J Obstet Gynecol; 2022 Jan; 226(1):128.e1-128.e11. PubMed ID: 34331894
[TBL] [Abstract][Full Text] [Related]
14. Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
Irie M; Niihori T; Nakano T; Suzuki T; Katayama S; Moriya K; Niizuma H; Suzuki N; Saito-Nanjo Y; Onuma M; Rikiishi T; Sato A; Hangai M; Hiwatari M; Ikeda J; Tanoshima R; Shiba N; Yuza Y; Yamamoto N; Hashii Y; Kato M; Takita J; Maeda M; Aoki Y; Imaizumi M; Sasahara Y
Int J Hematol; 2023 Apr; 117(4):598-606. PubMed ID: 36515795
[TBL] [Abstract][Full Text] [Related]
15. Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Ghesh L; Désir J; Haye D; Le Tanno P; Devillard F; Cogné B; Marangoni M; Tecco L; Heron D; Le Vaillant C; Joubert M; Beneteau C
Clin Genet; 2023 May; 103(5):560-565. PubMed ID: 36453701
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant.
Loganathan A; Munirathnam D; Ravikumar T
Pediatr Blood Cancer; 2019 Apr; 66(4):e27574. PubMed ID: 30536840
[No Abstract] [Full Text] [Related]
17. An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.
Lee HH; Mak AS; Kou KO; Poon CF; Wong WS; Chiu KH; Au PK; Chan KY; Kan AS; Tang MH; Leung KY
Hemoglobin; 2016 Nov; 40(6):431-434. PubMed ID: 28361594
[TBL] [Abstract][Full Text] [Related]
18. Diamond-Blackfan anemia as an unusual cause of nonimmune hydrops fetalis: a case report.
Van Hook JW; Gill P; Cyr D; Kapur RP
J Reprod Med; 1995 Dec; 40(12):850-4. PubMed ID: 8926615
[TBL] [Abstract][Full Text] [Related]
19. MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.
Shen F; Yang Y; Zheng Y; Li P; Luo Z; Fu Y; Zhu G; Mei H; Chen S; Zhu Y
Genet Med; 2022 May; 24(5):1139-1147. PubMed ID: 35219593
[TBL] [Abstract][Full Text] [Related]
20. Umbilical pressure measurement in the evaluation of nonimmune hydrops fetalis.
Weiner CP
Am J Obstet Gynecol; 1993 Mar; 168(3 Pt 1):817-23. PubMed ID: 8456887
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
